Incidental Mutation 'IGL01150:Avp'
ID 278218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Avp
Ensembl Gene ENSMUSG00000037727
Gene Name arginine vasopressin
Synonyms Vsp, Vp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01150
Quality Score
Status
Chromosome 2
Chromosomal Location 130422540-130424474 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 130422593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028764] [ENSMUST00000046001]
AlphaFold P35455
Predicted Effect probably benign
Transcript: ENSMUST00000028764
SMART Domains Protein: ENSMUSP00000028764
Gene: ENSMUSG00000027301

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Hormone_4 20 28 1.4e-6 PFAM
NH 39 116 2.16e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046001
SMART Domains Protein: ENSMUSP00000035551
Gene: ENSMUSG00000037727

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Hormone_4 24 32 9.9e-7 PFAM
NH 43 120 3.19e-50 SMART
low complexity region 143 150 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,550 (GRCm39) D507G possibly damaging Het
Actl6a A G 3: 32,766,313 (GRCm39) I60V probably benign Het
Adra2c T C 5: 35,438,485 (GRCm39) F419S probably damaging Het
Afap1l2 T C 19: 56,918,618 (GRCm39) Y105C probably damaging Het
Arid4b C T 13: 14,369,959 (GRCm39) Q1152* probably null Het
Arsj A G 3: 126,232,433 (GRCm39) D393G probably benign Het
Cacna2d3 C T 14: 28,905,598 (GRCm39) V390I possibly damaging Het
Ccdc25 T A 14: 66,097,651 (GRCm39) M195K possibly damaging Het
Cdhr2 T A 13: 54,878,931 (GRCm39) S979T probably benign Het
Cog2 T C 8: 125,269,630 (GRCm39) F390S possibly damaging Het
Dennd5b A G 6: 148,969,583 (GRCm39) V290A probably benign Het
Ebf1 T C 11: 44,759,927 (GRCm39) L188P probably damaging Het
Galt T C 4: 41,757,786 (GRCm39) probably benign Het
Gm12830 C T 4: 114,702,261 (GRCm39) T141I unknown Het
Herc2 T A 7: 55,830,881 (GRCm39) W2965R probably damaging Het
Hrg A G 16: 22,777,909 (GRCm39) probably null Het
Ighv8-5 T C 12: 115,031,194 (GRCm39) Y115C probably damaging Het
Igkv12-89 A G 6: 68,812,127 (GRCm39) V14A probably benign Het
Nav2 A C 7: 49,102,269 (GRCm39) T295P probably benign Het
Niban1 T C 1: 151,593,472 (GRCm39) V719A probably benign Het
Nrg1 G A 8: 32,407,903 (GRCm39) T110I probably damaging Het
Or4c31 T C 2: 88,292,419 (GRCm39) V264A possibly damaging Het
Or51h1 A C 7: 102,308,699 (GRCm39) K224Q probably benign Het
Or7g29 A T 9: 19,286,535 (GRCm39) I214N probably damaging Het
Pclo T C 5: 14,726,926 (GRCm39) probably benign Het
Polg2 T C 11: 106,668,258 (GRCm39) probably null Het
Ptges G T 2: 30,782,720 (GRCm39) R111S probably damaging Het
Rbbp4 T C 4: 129,216,668 (GRCm39) probably benign Het
Rundc3a T C 11: 102,284,602 (GRCm39) V34A probably benign Het
Scn3a C A 2: 65,327,709 (GRCm39) probably null Het
Sec14l3 T C 11: 4,026,238 (GRCm39) probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Svep1 T A 4: 58,070,302 (GRCm39) I2495F probably benign Het
Syne1 A G 10: 5,393,154 (GRCm39) S71P probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem161b C T 13: 84,440,526 (GRCm39) R133* probably null Het
Tnnc2 A T 2: 164,619,753 (GRCm39) I71N probably damaging Het
Vps13d T C 4: 144,875,845 (GRCm39) N1554S probably benign Het
Wfdc3 A T 2: 164,574,123 (GRCm39) probably benign Het
Zfp648 A T 1: 154,081,110 (GRCm39) H423L probably damaging Het
Other mutations in Avp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Avp APN 2 130,422,593 (GRCm39) utr 3 prime probably benign
IGL01585:Avp APN 2 130,422,629 (GRCm39) missense probably benign 0.00
R5780:Avp UTSW 2 130,422,629 (GRCm39) missense probably benign
R7553:Avp UTSW 2 130,423,098 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16