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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(9)
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 cattle; 1 dog; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: AVPR2
Protein SuperFamily: vasopressin/oxytocin receptor
Gene Tree: Avpr2

Human
homologs
AVPR2, arginine vasopressin receptor 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 554
neXtProt AC: NX_P30518

Human Synonyms: ADHR, DI1, DIR, DIR3, NDI, V2R

Human Chr (Location): Xq28; chrX:153902531-153907166 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human AVPR2

Mutations,
alleles, and
phenotypes
All mutations/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 in Mice Using Avpr2 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Avpr2 interacts with 176 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (7 records)
Data Summary: Results (41)    Tissues (28)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 41
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
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, CCDS72396.1, CCDS72397.1
International Mouse Phenotyping Consortium Status Avpr2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017671 VEGA Gene Model | MGI Sequence Detail 3401 C57BL/6J ±  kb
transcript OTTMUST00000042869 VEGA | MGI Sequence Detail 1812 Not Applicable 
polypeptide OTTMUSP00000019256 VEGA | MGI Sequence Detail 371 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(10) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(22 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017452 GPCR, rhodopsin-like, 7TM
InterPro IPR000276 G protein-coupled receptor, rhodopsin-like
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(46)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-1487

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory