|Institutional Source||Beutler Lab|
|Gene Name||arginine vasopressin receptor 1B|
|Synonyms||VPR3, V1bR, V3/V1b, V3/V1b pituitary vasopressin receptor, AVPR3, V1BR|
|Is this an essential gene?||Probably non essential (E-score: 0.060)|
|Stock #||R0690 (G1)|
|Chromosomal Location||131599239-131612000 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 131600281 bp|
|Amino Acid Change||Serine to Proline at position 181 (S181P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027690 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027690] [ENSMUST00000190410]|
|Predicted Effect||probably damaging
AA Change: S181P
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S181P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2653|
|Coding Region Coverage||
|Validation Efficiency||97% (87/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice for one allele display dysregulation of the hypothalamic-pituitary-adrenal axis activity under stress and resting conditions. Homozygous null mice for other alleles display decreased aggression or an increased propensity for seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Avpr1b||
(F):5'- TCCTCTGCCGGGCTGTCAAATATC -3'
(R):5'- CAAGCAATGTAGGCCAGCACAATG -3'
(F):5'- CCGGGCTGTCAAATATCTACAGG -3'
(R):5'- GACAAAGGTCATCTTCACGGTTC -3'