Utrn MGI Mouse Gene Detail - MGI:104631

Symbol

Utrn
Name

utrophin
Synonyms

Dmdl, DRP, G-utrophin

Feature Type

protein coding gene
IDs

MGI:104631
NCBI Gene: 22288
Gene Overview

MyGene.info: UTRN
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr10:12382188-12869365 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 3.77 cM
Mapping Data

4 experiments
Sequence Tag

D10Smh1

SNPs within 2kb

3072 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104631	protein coding gene	Chr10:12382187-12869888 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017015	protein coding gene	Chr10:9743964-10253298 (-)
A/J	MGP_AJ_G0016993	protein coding gene	Chr10:9330337-9860939 (-)
AKR/J	MGP_AKRJ_G0016957	protein coding gene	Chr10:9597660-10095174 (-)
BALB/cJ	MGP_BALBcJ_G0016951	protein coding gene	Chr10:9378140-9862939 (-)
C3H/HeJ	MGP_C3HHeJ_G0016776	protein coding gene	Chr10:9740928-10244886 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017413	protein coding gene	Chr10:10020269-10533130 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015118	protein coding gene	Chr10:8641032-9134273 (-)
CAST/EiJ	MGP_CASTEiJ_G0016358	protein coding gene	Chr10:9571492-10077640 (-)
CBA/J	MGP_CBAJ_G0016748	protein coding gene	Chr10:10370534-10906130 (-)
DBA/2J	MGP_DBA2J_G0016856	protein coding gene	Chr10:9283589-9765854 (-)
FVB/NJ	MGP_FVBNJ_G0016851	protein coding gene	Chr10:9124143-9615409 (-)
LP/J	MGP_LPJ_G0016931	protein coding gene	Chr10:9597823-10095460 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016881	protein coding gene	Chr10:10317366-10834975 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017451	protein coding gene	Chr10:9482705-9974206 (-)
PWK/PhJ	MGP_PWKPhJ_G0016143	protein coding gene	Chr10:9139163-9639261 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015926	protein coding gene	Chr10:9584370-10089877 (-)
WSB/EiJ	MGP_WSBEiJ_G0016420	protein coding gene	Chr10:9510958-10004295 (-)

Human Ortholog

UTRN, utrophin

Vertebrate Orthologs

10

Human Ortholog

UTRN, utrophin
Orthology source: HomoloGene, HGNC
Synonyms

DMDL, DRP, DRP1
Links

HGNC:12635

NCBI Gene ID: 7402

neXtProt AC: NX_P46939

UniProt: P46939
Chr Location

6q24.2; chr6:144284955-144853034 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 21398
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: UTRN
Protein SuperFamily

dystrophin/utrophin
Gene Tree

Utrn

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Mutations/Alleles

2 with disease annotations

References

4 with disease annotations

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Phenotype Summary

7 phenotypes from 2 alleles in 3 genetic backgrounds
37 phenotypes from multigenic genotypes
112 phenotype references

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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

223
Gene trapped

218
Targeted

2
Transgenic

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

135 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.

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All GO Annotations

25
GO References

10

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	synapse	vacuole

Click cells to view annotations.

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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

891
Tissues

103
cDNA Data

24
Literature Summary

26

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase utrn

ZFIN utrn

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Utrn interacts with 411 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

111
RefSeq

30
UniProt

13
CCDS

CCDS35841.1

Ensembl

ENSMUSG00000019820 (Evidence)
NCBI Gene

22288

			Length	Strain/Species	Flank
genomic	ENSMUSG00000019820	Ensembl Gene Model \| MGI Sequence Detail	487178	C57BL/6J	± kb
transcript	ENSMUST00000218635	Ensembl \| MGI Sequence Detail	11801	Not Applicable
polypeptide	ENSMUSP00000151431	Ensembl \| MGI Sequence Detail	3430	Not Applicable

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UniProt

13 Sequences
Protein Ontology

PR:000017209 utrophin

(term hierarchy)
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR035436 Dystrophin/utrophin

IPR011992 EF-hand domain pair

IPR015153 EF-hand domain, type 1

IPR015154 EF-hand domain, type 2

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat

IPR001202 WW domain

IPR036020 WW domain superfamily

IPR000433 Zinc finger, ZZ-type

IPR043145 Zinc finger, ZZ-type superfamily

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All nucleic 32

Genomic 3

cDNA 28

Primer pair 1

Microarray probesets 7

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MGD-MRK-26068, MGD-MRK-8870, MGI:2143500

Summaries

All 215

Developmental Gene Expression 26

Diseases 4

Gene Ontology 10

Phenotypes 112
Earliest

J:28687 Love DR, et al., An autosomal transcript in skeletal muscle with homology to dystrophin. Nature. 1989 May 4;339(6219):55-8
Latest

J:284199 Wood CL, et al., A comparison of the bone and growth phenotype of mdx, mdx:Cmah(-/-) and mdx:Utrn (+/-) murine models with the C57BL/10 wild-type mouse. Dis Model Mech. 2020 Jan 10;13(2)

TSS for Utrn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr96729	Chr10:12869630-12869641 (-)	-271 bp
Tssr96728	Chr10:12869489-12869517 (-)	-138 bp
Tssr3138	Chr10:12869442-12869487 (-)	-100 bp
Tssr96727	Chr10:12869144-12869222 (-)	182 bp
Tssr96726	Chr10:12869084-12869137 (-)	254 bp
Tssr96725	Chr10:12868290-12868304 (-)	1,068 bp
Tssr96724	Chr10:12868190-12868227 (-)	1,156 bp
Tssr96723	Chr10:12868174-12868187 (-)	1,184 bp
Tssr96719	Chr10:12813601-12813612 (-)	55,758 bp
Tssr96718	Chr10:12813540-12813590 (-)	55,800 bp
Tssr96716	Chr10:12615033-12615069 (-)	254,314 bp
Tssr96715	Chr10:12614687-12614700 (-)	254,671 bp
Tssr96714	Chr10:12614597-12614617 (-)	254,758 bp
Tssr96713	Chr10:12614560-12614572 (-)	254,799 bp
Tssr96711	Chr10:12548886-12548914 (-)	320,465 bp
Tssr96710	Chr10:12548730-12548775 (-)	320,612 bp
Tssr96709	Chr10:12548494-12548521 (-)	320,857 bp
Tssr96706	Chr10:12383864-12383868 (-)	485,499 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 01/12/2021 MGI 6.16