|Institutional Source||Beutler Lab|
|Gene Name||arginine vasopressin receptor 1A|
|Is this an essential gene?||Probably non essential (E-score: 0.154)|
|Stock #||R7043 (G1)|
|Chromosomal Location||122448499-122453452 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 122449681 bp|
|Amino Acid Change||Arginine to Cysteine at position 293 (R293C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020323 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020323]|
|Predicted Effect||probably damaging
AA Change: R293C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R293C
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: This gene encodes a receptor for arginine vasopressin, a neurohypophyseal hormone involved in diuresis inhibition, smooth muscle contraction, liver glycogenolysis stimulation and regulation of adrenocorticotropic hormone release from the pituitary. This receptor represents one of three G protein-coupled arginine vasopressin receptors which functions through a phosphotidylinositol-calcium second messenger system in vascular and hepatic tissues [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a stimulus processing deficit similar to that seen in schizophrenia. Anxiety-like behaviors are reduced in males but not females. B cell development is also affected. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Avpr1a||
(F):5'- GGTACCCGTGATCATCTTGG -3'
(R):5'- AGGTCCCAGGAATTTGCAATTTTG -3'
(F):5'- GGTACCTGCTATGGCTTCATCTG -3'
(R):5'- ATAACATACATACACACACACACC -3'