Incidental Mutation 'R0041:Avpi1'
ID15421
Institutional Source Beutler Lab
Gene Symbol Avpi1
Ensembl Gene ENSMUSG00000018821
Gene Namearginine vasopressin-induced 1
Synonyms2310008N12Rik, mVIT32
MMRRC Submission 038335-MU
Accession Numbers

Genbank: NM_027106; MGI: 1916784

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0041 (G1)
Quality Score
Status Validated
Chromosome19
Chromosomal Location42123273-42129059 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 42123784 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 112 (E112*)
Ref Sequence ENSEMBL: ENSMUSP00000018965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018965] [ENSMUST00000066778] [ENSMUST00000161873]
Predicted Effect probably null
Transcript: ENSMUST00000018965
AA Change: E112*
SMART Domains Protein: ENSMUSP00000018965
Gene: ENSMUSG00000018821
AA Change: E112*

DomainStartEndE-ValueType
Pfam:TC1 1 76 2.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066778
SMART Domains Protein: ENSMUSP00000069284
Gene: ENSMUSG00000025178

DomainStartEndE-ValueType
low complexity region 31 53 N/A INTRINSIC
low complexity region 68 98 N/A INTRINSIC
Pfam:PI3_PI4_kinase 133 431 1.7e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161873
SMART Domains Protein: ENSMUSP00000124617
Gene: ENSMUSG00000018821

DomainStartEndE-ValueType
Pfam:TC1 1 76 6.6e-34 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 77.6%
  • 3x: 65.6%
  • 10x: 37.8%
  • 20x: 19.1%
Validation Efficiency 90% (47/52)
Allele List at MGI

All alleles(74) : Targeted(3) Gene trapped(71)

Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik A T 6: 40,926,108 L110* probably null Het
Braf C T 6: 39,640,479 A534T probably damaging Het
Cntnap5c C A 17: 57,876,469 Q57K probably benign Het
Dlk1 G C 12: 109,455,513 G50A probably damaging Het
Dtna C T 18: 23,646,875 probably benign Het
Fancm T A 12: 65,106,443 C1224* probably null Het
Gigyf2 A C 1: 87,378,976 R129S probably damaging Het
Gm10130 A G 2: 150,323,825 I42V possibly damaging Het
Gpr125 A G 5: 49,960,559 Y1216H probably benign Het
Kcnk2 G T 1: 189,295,691 N122K probably benign Het
Lrrc7 G A 3: 158,164,260 probably benign Het
Msto1 A G 3: 88,910,235 S464P probably damaging Het
Myh1 A C 11: 67,209,078 N605H possibly damaging Het
Olfml1 A T 7: 107,590,186 I153L possibly damaging Het
Plekhg1 T A 10: 3,964,074 N1265K probably benign Het
Rlf T A 4: 121,149,929 H618L probably damaging Het
Rock1 T C 18: 10,140,240 D117G probably damaging Het
Serpinb6d A G 13: 33,667,632 D124G probably damaging Het
Slco1a1 A G 6: 141,918,459 probably benign Het
Swap70 A G 7: 110,279,355 K511E probably benign Het
Synb T C 14: 69,510,477 T193A probably damaging Het
Syt11 A G 3: 88,747,903 Y364H probably damaging Het
Vcan T A 13: 89,661,985 H3229L probably damaging Het
Wdr64 G A 1: 175,726,471 W189* probably null Het
Other mutations in Avpi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0041:Avpi1 UTSW 19 42123784 nonsense probably null
R1713:Avpi1 UTSW 19 42124809 missense probably damaging 1.00
R4031:Avpi1 UTSW 19 42124741 unclassified probably benign
R5547:Avpi1 UTSW 19 42124943 missense probably damaging 1.00
R6675:Avpi1 UTSW 19 42123744 missense probably benign
R7033:Avpi1 UTSW 19 42124977 missense probably damaging 1.00
Protein Function and Prediction

The Avpi1 gene encodes a 142 amino acid protein that may be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling (Uniprot Q9D7H4).  Avpi1 encodes the highly conserved VIT32 protein.  The Avpi1 transcript has been shown to be induced by vasopressin in in a mouse collecting duct cell line (1). In Xenopus laevis oocytes, VIT32 reduces Na+ transport when coexpressed with ENaC (2).  In addition, when injected into the Xenopus oocyte, VIT32 induced oocyte meiotic maturation (2). It has been proposed that VIT32 is involved in G to M transition and cell cycling (2).

Expression/Localization

Examination of Avpi1 expression by Northern Blot analysis identified a 1-kb transcript in all tissues examined in the mouse (2). An addition 1.4-kb transcript was also observed in the kidney and the lung (2).

References
Posted On2012-12-21
Science WriterAnne Murray