Avpr2
Gene Detail

Symbol Name ID

Avpr2 arginine vasopressin receptor 2 MGI:88123

Synonyms

DI1, ND1, nephrogenic diabetes insipidus, V2R

Feature Type

protein coding gene

Genetic Map

Chromosome X

37.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)

Sequence Map

ChrX:73892102-73895502 bp, + strand From VEGA annotation of GRCm38   3401 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20064  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken

Protein SuperFamily: vasopressin/oxytocin receptor
Gene Tree: Avpr2

Human homologs

Human Homolog		AVPR2, arginine vasopressin receptor 2
NCBI Gene ID		554
neXtProt AC		NX_P30518
Human Synonyms		ADHR, DI1, DIR, DIR3, NDI, V2R
Human Chr (Location)		Xq28; chrX:153167985-153172620 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human AVPR2

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Homozygous mutation of this gene results in death before 1 week of age and various renal function and metabolic defects, such as increased hematocrit, increased serum sodium and chloride concentration, hypoglycemia, and decreased urine osmolality.

 
Human Diseases Modeled Using Mouse Avpr2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	G-protein coupled receptor signaling pathway, I-kappaB kinase/NF-kappaB cascade, ...
Component	integral to membrane, membrane, ...
Function	G-protein coupled receptor activity, signal transducer activity, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (41)    Tissues (28)    Images (13)
Theiler Stages: 19, 23, 28

Assay Type	Results
RNA in situ	41

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(14) Genomic(4) cDNA(10)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000017671 (Evidence)
Ensembl Gene Model	ENSMUSG00000031390 (Evidence)
Entrez Gene	12000 (Evidence)
DFCI	TC1590212, TC1595396, TC1604217
NIA Mouse Gene Index	U019949
Consensus CDS Project	CCDS30216.1
International Mouse Knockout Project Status	Avpr2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017671	VEGA Gene Model | MGI Sequence Detail	3401	C57BL/6J
transcript	OTTMUST00000042869	VEGA | MGI Sequence Detail	1812	Not Applicable
polypeptide	OTTMUSP00000019256	VEGA | MGI Sequence Detail	371	Not Applicable

All sequences(41) RefSeq(6) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(14 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000276	GPCR, rhodopsin-like
InterPro	IPR017452	GPCR, rhodopsin-like, 7TM
InterPro	IPR001817	Vasopressin receptor
InterPro	IPR000161	Vasopressin V2 receptor
Protein Ontology	PR:000001683	vasopressin V2 receptor

References

(Earliest) J:7702 Charlton HM, Mouse mutants as models in endocrine research. Q J Exp Physiol. 1984 Oct;69(4):655-76
(Latest) J:178649 Yang DH, et al., Renal collecting system growth and function depend upon embryonic gamma1 laminin expression. Development. 2011 Oct;138(20):4535-44
All references(48)

Other accession IDs

MGD-MRK-1487