Incidental Mutation 'IGL01375:Aqp2'
ID78699
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: 0.364) question?
Stock #IGL01375
Quality Score
Status
Chromosome15
Chromosomal Location99579055-99584547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99582102 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 149 (T149A)
Ref Sequence ENSEMBL: ENSMUSP00000023752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023752]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023752
AA Change: T149A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023752
Gene: ENSMUSG00000023013
AA Change: T149A

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A G 13: 98,984,142 probably benign Het
Anxa2 C T 9: 69,483,019 R68* probably null Het
Apc C T 18: 34,313,654 S1167L probably damaging Het
Asb8 T C 15: 98,141,309 E70G probably damaging Het
Carmil1 T C 13: 24,094,471 I172V possibly damaging Het
Cd38 A G 5: 43,903,597 M172V probably benign Het
Dyrk2 A G 10: 118,860,687 V222A probably damaging Het
Ephb6 T A 6: 41,615,911 probably benign Het
Fam208a A G 14: 27,440,163 R159G probably damaging Het
Fbxo15 T C 18: 84,958,279 S48P possibly damaging Het
Gsdma3 T C 11: 98,629,941 probably null Het
Htr1d A G 4: 136,443,173 T238A probably benign Het
Kcnh3 G A 15: 99,226,993 W108* probably null Het
Kdsr A T 1: 106,727,694 Y272N probably benign Het
Lrp2 A G 2: 69,478,566 probably benign Het
Nup210l G A 3: 90,159,893 V747M probably damaging Het
Olfr1200 A G 2: 88,767,466 V283A probably benign Het
Olfr1512 A G 14: 52,372,408 I215T probably damaging Het
Pfn3 T A 13: 55,414,828 R113S possibly damaging Het
Pik3r4 T C 9: 105,644,604 I123T possibly damaging Het
Plec A T 15: 76,176,440 I3121N probably damaging Het
Prepl C T 17: 85,071,991 G336D possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prps1l1 A G 12: 34,985,632 T249A possibly damaging Het
Rptor T A 11: 119,896,436 F1276I possibly damaging Het
Serpina3f G A 12: 104,220,476 V434I unknown Het
Slc25a12 T C 2: 71,308,050 probably benign Het
Slc4a4 T C 5: 89,179,734 C642R probably damaging Het
Slit2 C T 5: 48,281,714 probably benign Het
Tgfbr3 A G 5: 107,136,971 V604A probably benign Het
Tnfrsf1b T C 4: 145,225,416 Y126C probably damaging Het
Traf4 T C 11: 78,160,082 N416S probably benign Het
Trappc10 A G 10: 78,188,899 I1132T possibly damaging Het
Vps8 T A 16: 21,559,372 Y642* probably null Het
Wdr60 G T 12: 116,229,676 A552E possibly damaging Het
Other mutations in Aqp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Aqp2 APN 15 99579420 missense possibly damaging 0.54
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 On2013-11-05