|Institutional Source||Beutler Lab|
|Gene Name||arginine vasopressin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7553 (G1)|
|Chromosomal Location||130580620-130582554 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 130581178 bp|
|Amino Acid Change||Valine to Alanine at position 71 (V71A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035551 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028764] [ENSMUST00000046001]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: V71A
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V71A
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin binds to vasopressin receptors and functions as a vasopressor, to constrict blood vessels and increase blood pressure, and as an antidiuretic, to reduce the production of urine. Neurophysin 2 functions as a carrier protein in the transport of arginine vasopressin. This gene is present in a gene cluster with the related gene oxytocin on chromosome 2. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a premature stop mutation display postnatal lethality. Heterozygous mice display polyuria, increased water intake, decreased urine osmolality, and hypothalamic abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Avp||
(F):5'- ACGCAGCTCTCTGAAGGAAG -3'
(R):5'- TCTTTCTGATGACCCAGCCG -3'
(F):5'- CTCTCTGAAGGAAGAGCTCTG -3'
(R):5'- ACCCAGCCGGTTAGATTTTCAC -3'