Smo MGI Mouse Gene Detail - MGI:108075 - smoothened, frizzled class receptor

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Smo Gene Detail

Symbol

Smo
Name

smoothened, frizzled class receptor
Synonyms

E130215L21Rik

Feature Type

protein coding gene
IDs

MGI:108075
NCBI Gene: 319757
Alliance

gene page
Transcription Start Sites

7 TSS
Candidate for QTL

7 QTL

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Sequence Map

Chr6:29735502-29761364 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 12.36 cM, cytoband A3.3
Mapping Data

6 experiments

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SNPs within 2kb

75 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_108075	protein coding gene	Chr6:29735480-29761364 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030530	protein coding gene	Chr6:27561325-27587626 (+)
A/J	MGP_AJ_G0030503	protein coding gene	Chr6:26388847-26418750 (+)
AKR/J	MGP_AKRJ_G0030430	protein coding gene	Chr6:27252707-27287872 (+)
BALB/cJ	MGP_BALBcJ_G0030513	protein coding gene	Chr6:26551100-26577319 (+)
C3H/HeJ	MGP_C3HHeJ_G0030226	protein coding gene	Chr6:27268523-27297526 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030967	protein coding gene	Chr6:28338965-28370474 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028178	protein coding gene	Chr6:24593186-24617494 (+)
CAST/EiJ	MGP_CASTEiJ_G0029628	protein coding gene	Chr6:27065368-27093385 (+)
CBA/J	MGP_CBAJ_G0030204	protein coding gene	Chr6:29420121-29463156 (+)
DBA/2J	MGP_DBA2J_G0030348	protein coding gene	Chr6:26329227-26354263 (+)
FVB/NJ	MGP_FVBNJ_G0030302	protein coding gene	Chr6:26086867-26110785 (+)
LP/J	MGP_LPJ_G0030435	protein coding gene	Chr6:27689379-27720138 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030338	protein coding gene	Chr6:31907859-31939053 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030997	protein coding gene	Chr6:27134156-27164129 (+)
PWK/PhJ	MGP_PWKPhJ_G0029342	protein coding gene	Chr6:25875714-25902364 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029178	protein coding gene	Chr6:26866936-26893065 (+)
WSB/EiJ	MGP_WSBEiJ_G0029704	protein coding gene	Chr6:27105030-27134202 (+)

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Human Ortholog

SMO, smoothened, frizzled class receptor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SMO, smoothened, frizzled class receptor
Synonyms

CRJS, FZD11, Gx, PHLS, SMOH
Links

HGNC:11119

NCBI Gene ID: 6608

neXtProt AC: NX_Q99835

UniProt: Q99835
Chr Location

7q32.1; chr7:129188633-129213545 (+) GRCh38

MGI Vertebrate Homology

Smo stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SMO
Gene Tree

Smo

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Diseases

2 with Smo mouse models; 5 with human SMO associations

Human Disease

Mouse Models

Mouse gene associated with disease

medulloblastoma

IDs

View 8 models

pulmonary emphysema

IDs

View 1 model

Human gene associated with disease

basal cell carcinoma

IDs

hepatocellular carcinoma

IDs

malignant pleural mesothelioma

IDs

pancreatic cancer

IDs

pancreatic ductal carcinoma

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

5 with disease annotations

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Phenotype Summary

177 phenotypes from 11 alleles in 30 genetic backgrounds
54 phenotypes from multigenic genotypes
2 images
424 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

20
Chemically induced (ENU)

6
Endonuclease-mediated

3
Targeted

9
Transgenic

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively.

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All GO Annotations

159
GO References

63

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1050
Tissues

196
cDNA Data

120
Literature Summary

122

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SMO

Xenbase smo

ZFIN smo

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All Sequences

55
RefSeq

4
UniProt

5
CCDS

CCDS19965.1

Ensembl

ENSMUSG00000001761 (Evidence)
NCBI Gene

319757

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000001761	Ensembl Gene Model \| MGI Sequence Detail	25863	C57BL/6J	± kb
	transcript	ENSMUST00000001812	Ensembl \| MGI Sequence Detail	3779	Not Applicable
	polypeptide	ENSMUSP00000001812	Ensembl \| MGI Sequence Detail	793	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000015288 protein smoothened

(term hierarchy)
PDB

6O3C
InterPro Domains

IPR036790 Frizzled cysteine-rich domain superfamily

IPR020067 Frizzled domain

IPR015526 Frizzled/secreted frizzled-related protein

IPR000539 Frizzled/Smoothened, 7TM

IPR017981 GPCR, family 2-like, 7TM

IPR035683 Smoothened, 7TM

IPR041771 Smoothened, cysteine-rich domain

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All nucleic 147

Genomic 1

cDNA 123

Primer pair 17

Other 6

Microarray probesets 4

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MGD-MRK-37112, MGI:1276113, MGI:2442674

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Summaries

All 614

Developmental Gene Expression 122

Diseases 5

Gene Ontology 63

Phenotypes 424
Earliest

J:36573 Stone DM, et al., The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog [see comments]. Nature. 1996 Nov 14;384(6605):129-34
Latest

J:346387 Yamada M, et al., Childhood cancer mutagenesis caused by transposase-derived PGBD5. Sci Adv. 2024 Mar 22;10(12):eadn4649

TSS for Smo:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr55287	Chr6:29735470-29735546 (+)	6 bp
Tssr55288	Chr6:29735610-29735628 (+)	117 bp
Tssr55289	Chr6:29735630-29735662 (+)	144 bp
Tssr55290	Chr6:29735666-29735679 (+)	171 bp
Tssr55291	Chr6:29736124-29736148 (+)	634 bp
Tssr55292	Chr6:29746758-29746765 (+)	11,260 bp
Tssr55293	Chr6:29760900-29760932 (+)	25,414 bp

Smo is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bw18	Chr6, 35.94 cM	Chr6:83690851-83691013	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.
Bwtq3	Chr6, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.
Fglu	Chr6, 15.12 cM	Chr6:34711598-34711719	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.
Mobq2	Chr6, 6.68 cM	Chr6:15144273-15144495	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.
Nidd3n	Chr6, syntenic	Chr6:75521339-94202936	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.
Obq13	Chr6, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.
Obq14	Chr6, 45.74 cM		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 6, Smo (7.2 cM) and Flnc (8.5 cM) both show differential expression between restricted and unrestricted diets on the A/a background as well as differential expressionbetween A/a and A/A animals on the restricted diet. D6Wsu176e (2 cM) shows differential expression between restricted and unrestricted diets on the A/A background. Diabesity QTLs Fglu (16 cM), Mob2 (3.05 cM), and Bwtq3 (4 cM) maps near these candidate genes. Candidate genes for diabesity QTLs Nidd3n (35.5 cM), Obq13 (26.8 cM), Obq14 (43.5 cM), and Bw18 (35 cM) are Mad2l1 (30.3 cM) and Rab11fip5 (35.5 cM, formerly ERATO DOI 32e). Mad2l1 shows differential expression between A/a and A/A animalsonboth the restricted and unrestricted diets. Rab11fip5 shows differential expression between A/a and A/A animals on the restricted diet.

*cM position of peak correlated region/marker

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