Incidental Mutation 'IGL01149:Avp'
ID 278216
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 # IGL01149
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4632415L05Rik A G 3: 19,949,276 (GRCm39) noncoding transcript Het
Aadacl4fm4 T C 4: 144,400,349 (GRCm39) D143G probably benign Het
Adcy1 A C 11: 7,087,385 (GRCm39) N420H probably damaging Het
B3galnt2 A T 13: 14,155,270 (GRCm39) I216F probably benign Het
Cdc42bpa T C 1: 179,902,137 (GRCm39) S465P probably damaging Het
Cdc42bpg T A 19: 6,362,235 (GRCm39) probably benign Het
Cdcp2 T C 4: 106,964,308 (GRCm39) F386S probably benign Het
Cdh4 A G 2: 179,515,937 (GRCm39) T372A probably damaging Het
Clspn T G 4: 126,466,971 (GRCm39) M612R probably damaging Het
Dll4 T C 2: 119,161,590 (GRCm39) C391R probably damaging Het
Dll4 T C 2: 119,163,226 (GRCm39) Y616H probably damaging Het
Exoc1 A G 5: 76,690,091 (GRCm39) probably benign Het
F830045P16Rik A G 2: 129,302,232 (GRCm39) probably null Het
Fhod1 A G 8: 106,074,439 (GRCm39) probably benign Het
Fign T C 2: 63,810,104 (GRCm39) R389G possibly damaging Het
Gm13941 T A 2: 110,931,482 (GRCm39) E50V unknown Het
Kit C T 5: 75,771,536 (GRCm39) T231M probably damaging Het
Neu3 T C 7: 99,463,087 (GRCm39) H212R probably benign Het
Nup214 G T 2: 31,924,712 (GRCm39) S1747I probably damaging Het
Or4f4b T C 2: 111,314,446 (GRCm39) S224P probably damaging Het
Or4q3 G T 14: 50,583,071 (GRCm39) A276E probably damaging Het
Or8b12i G T 9: 20,082,826 (GRCm39) L14I probably damaging Het
Secisbp2 T C 13: 51,830,491 (GRCm39) probably null Het
Slc26a10 G A 10: 127,010,046 (GRCm39) probably benign Het
Slc7a6 T C 8: 106,906,232 (GRCm39) S155P probably damaging Het
Slf1 A T 13: 77,260,767 (GRCm39) I173N probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tkfc A G 19: 10,578,015 (GRCm39) L38P probably damaging Het
Tubgcp4 A G 2: 121,015,264 (GRCm39) D324G probably null Het
Zfyve16 T C 13: 92,644,791 (GRCm39) H1137R probably damaging Het
Other mutations in Avp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150: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