Incidental Mutation 'IGL01431:Aqp2'
ID84111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp2
Ensembl Gene ENSMUSG00000023013
Gene Nameaquaporin 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.304) question?
Stock #IGL01431
Quality Score
Status
Chromosome15
Chromosomal Location99579055-99584547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 99579420 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 90 (V90M)
Ref Sequence ENSEMBL: ENSMUSP00000023752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023752]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023752
AA Change: V90M

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023752
Gene: ENSMUSG00000023013
AA Change: V90M

DomainStartEndE-ValueType
Pfam:MIP 3 219 4.2e-82 PFAM
low complexity region 247 258 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Atf6 T C 1: 170,853,002 probably benign Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Got1 T A 19: 43,503,049 K321* probably null Het
Gpn1 T C 5: 31,507,538 V302A probably benign Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Mylk3 T C 8: 85,336,401 D537G probably damaging Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Rsad2 T A 12: 26,448,667 R269S probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Schip1 A T 3: 68,617,777 Q162L probably damaging Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Aqp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Aqp2 APN 15 99582102 missense possibly damaging 0.93
R1542:Aqp2 UTSW 15 99583842 missense probably benign 0.00
R2049:Aqp2 UTSW 15 99579366 missense probably damaging 1.00
R2074:Aqp2 UTSW 15 99583100 missense probably benign 0.02
R2140:Aqp2 UTSW 15 99579366 missense probably damaging 1.00
R5598:Aqp2 UTSW 15 99579112 start gained probably benign
R6872:Aqp2 UTSW 15 99584004 missense probably benign 0.00
R7228:Aqp2 UTSW 15 99582124 missense probably benign 0.03
RF011:Aqp2 UTSW 15 99583872 missense probably damaging 1.00
Posted On2013-11-11