Incidental Mutation 'IGL01375:Aqp2'
ID 78699
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: 0.441) question?
Stock # IGL01375
Quality Score
Status
Chromosome 15
Chromosomal Location 99476937-99482426 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99479983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 149 (T149A)
Ref Sequence ENSEMBL: ENSMUSP00000023752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023752]
AlphaFold P56402
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
Anxa2 C T 9: 69,390,301 (GRCm39) R68* probably null Het
Apc C T 18: 34,446,707 (GRCm39) S1167L probably damaging Het
Asb8 T C 15: 98,039,190 (GRCm39) E70G probably damaging Het
Carmil1 T C 13: 24,278,454 (GRCm39) I172V possibly damaging Het
Cd38 A G 5: 44,060,939 (GRCm39) M172V probably benign Het
Dync2i1 G T 12: 116,193,296 (GRCm39) A552E possibly damaging Het
Dyrk2 A G 10: 118,696,592 (GRCm39) V222A probably damaging Het
Ephb6 T A 6: 41,592,845 (GRCm39) probably benign Het
Fbxo15 T C 18: 84,976,404 (GRCm39) S48P possibly damaging Het
Gsdma3 T C 11: 98,520,767 (GRCm39) probably null Het
H2bl1 A G 13: 99,120,650 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,484 (GRCm39) T238A probably benign Het
Kcnh3 G A 15: 99,124,874 (GRCm39) W108* probably null Het
Kdsr A T 1: 106,655,424 (GRCm39) Y272N probably benign Het
Lrp2 A G 2: 69,308,910 (GRCm39) probably benign Het
Nup210l G A 3: 90,067,200 (GRCm39) V747M probably damaging Het
Or10g3 A G 14: 52,609,865 (GRCm39) I215T probably damaging Het
Or4a67 A G 2: 88,597,810 (GRCm39) V283A probably benign Het
Pfn3 T A 13: 55,562,641 (GRCm39) R113S possibly damaging Het
Pik3r4 T C 9: 105,521,803 (GRCm39) I123T possibly damaging Het
Plec A T 15: 76,060,640 (GRCm39) I3121N probably damaging Het
Prepl C T 17: 85,379,419 (GRCm39) G336D possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prps1l1 A G 12: 35,035,631 (GRCm39) T249A possibly damaging Het
Rptor T A 11: 119,787,262 (GRCm39) F1276I possibly damaging Het
Serpina3f G A 12: 104,186,735 (GRCm39) V434I unknown Het
Slc25a12 T C 2: 71,138,394 (GRCm39) probably benign Het
Slc4a4 T C 5: 89,327,593 (GRCm39) C642R probably damaging Het
Slit2 C T 5: 48,439,056 (GRCm39) probably benign Het
Tasor A G 14: 27,162,120 (GRCm39) R159G probably damaging Het
Tgfbr3 A G 5: 107,284,837 (GRCm39) V604A probably benign Het
Tnfrsf1b T C 4: 144,951,986 (GRCm39) Y126C probably damaging Het
Traf4 T C 11: 78,050,908 (GRCm39) N416S probably benign Het
Trappc10 A G 10: 78,024,733 (GRCm39) I1132T possibly damaging Het
Vps8 T A 16: 21,378,122 (GRCm39) Y642* probably null Het
Other mutations in Aqp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Aqp2 APN 15 99,477,301 (GRCm39) missense possibly damaging 0.54
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 2013-11-05