Incidental Mutation 'IGL01431:Aqp2'
ID 84111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp2
Ensembl Gene ENSMUSG00000023013
Gene Name aquaporin 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # IGL01431
Quality Score
Status
Chromosome 15
Chromosomal Location 99476937-99482426 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99477301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 90 (V90M)
Ref Sequence ENSEMBL: ENSMUSP00000023752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023752]
AlphaFold P56402
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
Adamts7 A G 9: 90,089,838 (GRCm39) I897T possibly damaging Het
Atf6 T C 1: 170,680,571 (GRCm39) probably benign Het
Cdh3 T C 8: 107,274,301 (GRCm39) Y607H probably damaging Het
Cer1 T A 4: 82,801,068 (GRCm39) E198D probably benign Het
Dscam A G 16: 96,453,278 (GRCm39) probably null Het
Ecel1 C T 1: 87,079,226 (GRCm39) R484H probably damaging Het
Entpd7 C A 19: 43,718,278 (GRCm39) H575Q probably benign Het
F11r T C 1: 171,290,477 (GRCm39) V279A probably damaging Het
Gm17093 T A 14: 44,759,122 (GRCm39) probably benign Het
Got1 T A 19: 43,491,488 (GRCm39) K321* probably null Het
Gpn1 T C 5: 31,664,882 (GRCm39) V302A probably benign Het
Hivep1 G T 13: 42,311,493 (GRCm39) K1244N probably damaging Het
Idh3b T C 2: 130,123,817 (GRCm39) T116A possibly damaging Het
Itgb4 C A 11: 115,897,283 (GRCm39) probably benign Het
Mybl1 G T 1: 9,742,872 (GRCm39) L579I probably damaging Het
Myh14 T A 7: 44,263,782 (GRCm39) T1694S probably null Het
Mylk3 T C 8: 86,063,030 (GRCm39) D537G probably damaging Het
Myo1d A C 11: 80,565,665 (GRCm39) F387V probably damaging Het
Nek9 T C 12: 85,361,361 (GRCm39) Y448C probably benign Het
Or8k40 A T 2: 86,584,508 (GRCm39) H191Q probably benign Het
Paxbp1 T C 16: 90,832,804 (GRCm39) probably benign Het
Potefam1 A T 2: 111,055,740 (GRCm39) probably benign Het
Retreg2 T A 1: 75,121,749 (GRCm39) probably null Het
Ripply3 G A 16: 94,129,402 (GRCm39) C16Y possibly damaging Het
Robo3 G A 9: 37,330,407 (GRCm39) probably benign Het
Rrm1 C A 7: 102,106,759 (GRCm39) probably benign Het
Rsad2 T A 12: 26,498,666 (GRCm39) R269S probably benign Het
Sbp A T 17: 24,164,322 (GRCm39) probably benign Het
Schip1 A T 3: 68,525,110 (GRCm39) Q162L probably damaging Het
Senp1 T C 15: 97,980,144 (GRCm39) Y67C probably damaging Het
Slc25a25 C T 2: 32,309,103 (GRCm39) R233K probably damaging Het
Smoc1 C A 12: 81,199,525 (GRCm39) S220* probably null Het
Stab1 C A 14: 30,870,952 (GRCm39) R1299I probably benign Het
Stk17b A G 1: 53,805,074 (GRCm39) probably benign Het
Tmc7 T G 7: 118,151,985 (GRCm39) D312A probably damaging Het
Vmn1r79 T C 7: 11,910,327 (GRCm39) S70P possibly damaging Het
Zfc3h1 C A 10: 115,259,128 (GRCm39) T1591K possibly damaging Het
Other mutations in Aqp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Aqp2 APN 15 99,479,983 (GRCm39) missense possibly damaging 0.93
R1542:Aqp2 UTSW 15 99,481,723 (GRCm39) missense probably benign 0.00
R2049:Aqp2 UTSW 15 99,477,247 (GRCm39) missense probably damaging 1.00
R2074:Aqp2 UTSW 15 99,480,981 (GRCm39) missense probably benign 0.02
R2140:Aqp2 UTSW 15 99,477,247 (GRCm39) missense probably damaging 1.00
R5598:Aqp2 UTSW 15 99,476,993 (GRCm39) start gained probably benign
R6872:Aqp2 UTSW 15 99,481,885 (GRCm39) missense probably benign 0.00
R7228:Aqp2 UTSW 15 99,480,005 (GRCm39) missense probably benign 0.03
RF011:Aqp2 UTSW 15 99,481,753 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11