Bbs5 MGI Mouse Gene Detail - MGI:1919819

Symbol

Bbs5
Name

Bardet-Biedl syndrome 5
Synonyms

1700049I01Rik, 2700023J09Rik

Feature Type

protein coding gene
IDs

MGI:1919819
NCBI Gene: 72569
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr2:69477515-69497915 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 40.91 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

171 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919819	protein coding gene	Chr2:69477193-69497915 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025800	protein coding gene	Chr2:69629622-69649973 (+)
A/J	MGP_AJ_G0025777	protein coding gene	Chr2:66942108-66962645 (+)
AKR/J	MGP_AKRJ_G0025746	protein coding gene	Chr2:68740714-68762566 (+)
BALB/cJ	MGP_BALBcJ_G0025772	protein coding gene	Chr2:67098802-67120005 (+)
C3H/HeJ	MGP_C3HHeJ_G0025532	protein coding gene	Chr2:68980968-69002601 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026219	protein coding gene	Chr2:71738892-71763260 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023622	protein coding gene	Chr2:64173013-64193326 (+)
CAST/EiJ	MGP_CASTEiJ_G0024996	protein coding gene	Chr2:69094025-69114220 (+)
CBA/J	MGP_CBAJ_G0025512	protein coding gene	Chr2:74365809-74392297 (+)
DBA/2J	MGP_DBA2J_G0025643	protein coding gene	Chr2:66574686-66597383 (+)
FVB/NJ	MGP_FVBNJ_G0025606	protein coding gene	Chr2:65957214-65978098 (+)
LP/J	MGP_LPJ_G0025732	protein coding gene	Chr2:69476442-69498967 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025635	protein coding gene	Chr2:76421188-76446708 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026276	protein coding gene	Chr2:68836489-68857862 (+)
PWK/PhJ	MGP_PWKPhJ_G0024737	protein coding gene	Chr2:66415146-66435545 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024544	protein coding gene	Chr2:69059481-69081319 (+)
WSB/EiJ	MGP_WSBEiJ_G0025064	protein coding gene	Chr2:69263326-69284335 (+)

Human Ortholog

BBS5, Bardet-Biedl syndrome 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BBS5, Bardet-Biedl syndrome 5
Links

HGNC:970

NCBI Gene ID: 129880

neXtProt AC: NX_Q8N3I7

UniProt: Q8N3I7
Chr Location

2q31.1; chr2:169479480-169506655 (+) GRCh38

MGI Vertebrate Homology

Bbs5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BBS5
Protein SuperFamily

DUF1448
Gene Tree

Bbs5

Diseases

1 with Bbs5 mouse models; 2 with human BBS5 associations

Human Disease

Mouse Models

Bardet-Biedl syndrome 5

IDs

View 1 model

Bardet-Biedl syndrome

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

47 phenotypes from 2 alleles in 2 genetic backgrounds
20 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	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

11
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Targeted

7
Genomic Mutations

1 involving Bbs5
Incidental Mutations

APF
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice with an incomplete loss of function allele show increased postnatal lethality, craniofacial and skeletal defects, ventriculomegaly and pituitary abnormalities, infertility and obesity in adulthood.

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All GO Annotations

29
GO References

17

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

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

712
Tissues

4
cDNA Data

18
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bbs5

ZFIN bbs5

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All Sequences

49
RefSeq

7
UniProt

4
CCDS

CCDS16094.1

Ensembl

ENSMUSG00000063145 (Evidence)
NCBI Gene

72569

			Length	Strain/Species	Flank
genomic	ENSMUSG00000063145	Ensembl Gene Model \| MGI Sequence Detail	20401	C57BL/6J	± kb
transcript	ENSMUST00000074963	Ensembl \| MGI Sequence Detail	1468	Not Applicable
polypeptide	ENSMUSP00000074494	Ensembl \| MGI Sequence Detail	341	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000004668 Bardet-Biedl syndrome 5 protein

(term hierarchy)
InterPro Domains

IPR006606 Bardet-Biedl syndrome 5 protein

IPR030804 Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3

IPR014003 DM16 repeat

IPR011993 PH-like domain superfamily

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All nucleic 18

cDNA 18

Microarray probesets 3

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MGI:1920698

Summaries

All 58

Developmental Gene Expression 2

Diseases 1

Gene Ontology 17

Phenotypes 20
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:307098 Bentley-Ford MR, et al., A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities. Hum Mol Genet. 2021 Apr 26;30(3-4):234-246

TSS for Bbs5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18125	Chr2:69477181-69477193 (+)	-328 bp
Tssr18126	Chr2:69477210-69477219 (+)	-300 bp
Tssr18127	Chr2:69477555-69477616 (+)	71 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23