Incidental Mutation 'IGL01585:Avp'
ID 93351
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 # IGL01585
Quality Score
Status
Chromosome 2
Chromosomal Location 130422540-130424474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 130422629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 159 (S159A)
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
AA Change: S159A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035551
Gene: ENSMUSG00000037727
AA Change: S159A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,359,045 (GRCm39) D587G probably benign Het
Adcy1 T A 11: 7,117,143 (GRCm39) N1003K probably damaging Het
Alpk1 T C 3: 127,473,462 (GRCm39) D847G probably benign Het
Atp5f1a T C 18: 77,868,758 (GRCm39) V417A possibly damaging Het
Brca2 C A 5: 150,462,981 (GRCm39) A915D possibly damaging Het
Cdc42bpg G A 19: 6,370,462 (GRCm39) R1185H possibly damaging Het
Cdcp3 T G 7: 130,846,487 (GRCm39) V637G probably damaging Het
Clrn2 A G 5: 45,617,500 (GRCm39) I124V probably benign Het
Cntn4 A T 6: 106,595,289 (GRCm39) K469* probably null Het
Cxcl1 T A 5: 91,039,583 (GRCm39) N70K probably damaging Het
Dbf4 A G 5: 8,458,492 (GRCm39) probably null Het
Fbn1 A T 2: 125,202,030 (GRCm39) V1281E probably damaging Het
Fgfr3 A T 5: 33,891,305 (GRCm39) Q523L probably damaging Het
Golga5 A G 12: 102,445,954 (GRCm39) K403R probably benign Het
Gpr22 A G 12: 31,759,336 (GRCm39) I262T probably benign Het
Gstm3 G T 3: 107,873,474 (GRCm39) Q166K probably benign Het
Ilf2 T A 3: 90,391,849 (GRCm39) N183K probably damaging Het
Ip6k2 T A 9: 108,673,512 (GRCm39) L40Q probably damaging Het
Itga8 A T 2: 12,165,123 (GRCm39) probably benign Het
Lbr T A 1: 181,653,208 (GRCm39) R70* probably null Het
Lilra6 T C 7: 3,917,498 (GRCm39) T166A probably benign Het
Map3k4 T C 17: 12,467,846 (GRCm39) K1063E probably damaging Het
Msi1 T C 5: 115,568,949 (GRCm39) probably null Het
Pam A G 1: 97,792,197 (GRCm39) V408A probably damaging Het
Plxna1 A G 6: 89,306,538 (GRCm39) probably null Het
Ppp1r36 A T 12: 76,485,891 (GRCm39) probably null Het
Prrt4 A G 6: 29,177,689 (GRCm39) S27P probably benign Het
Psmg1 G A 16: 95,789,221 (GRCm39) T112I possibly damaging Het
Rfx7 T G 9: 72,524,343 (GRCm39) I511S probably benign Het
Ros1 G A 10: 52,031,198 (GRCm39) T481M probably damaging Het
Scfd1 A G 12: 51,462,336 (GRCm39) D397G probably damaging Het
Sel1l3 A G 5: 53,311,578 (GRCm39) Y636H probably damaging Het
Sgms1 T G 19: 32,120,245 (GRCm39) R220S probably damaging Het
Slc37a3 A T 6: 39,314,196 (GRCm39) I472N probably damaging Het
Syne2 A G 12: 75,995,834 (GRCm39) probably null Het
Tert T C 13: 73,782,463 (GRCm39) V579A probably benign Het
Ush2a A T 1: 188,162,924 (GRCm39) H1002L probably damaging Het
Other mutations in Avp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Avp APN 2 130,422,593 (GRCm39) utr 3 prime probably benign
IGL01150:Avp APN 2 130,422,593 (GRCm39) utr 3 prime probably benign
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 2013-12-09