Incidental Mutation 'R5598:Aqp2'
ID 437941
Institutional Source Beutler Lab
Gene Symbol Aqp2
Ensembl Gene ENSMUSG00000023013
Gene Name aquaporin 2
Synonyms
MMRRC Submission 043150-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R5598 (G1)
Quality Score 162
Status Not validated
Chromosome 15
Chromosomal Location 99476937-99482426 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 99476993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023752]
AlphaFold P56402
Predicted Effect probably benign
Transcript: ENSMUST00000023752
SMART Domains Protein: ENSMUSP00000023752
Gene: ENSMUSG00000023013

DomainStartEndE-ValueType
Pfam:MIP 3 219 4.2e-82 PFAM
low complexity region 247 258 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,025,645 (GRCm39) D550G probably damaging Het
Ano6 A G 15: 95,839,228 (GRCm39) T457A probably damaging Het
Ano8 A G 8: 71,935,221 (GRCm39) V359A probably damaging Het
Atp13a5 C T 16: 29,075,829 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccr1l1 A G 9: 123,778,030 (GRCm39) V139A probably benign Het
Cecr2 A G 6: 120,708,407 (GRCm39) probably null Het
Celsr2 A G 3: 108,310,119 (GRCm39) V1537A possibly damaging Het
Chd6 T A 2: 160,856,032 (GRCm39) K741N probably damaging Het
Chrna1 T A 2: 73,397,075 (GRCm39) T405S probably benign Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Cmss1 C A 16: 57,131,649 (GRCm39) C159F probably damaging Het
Col1a2 A G 6: 4,516,916 (GRCm39) probably benign Het
Cradd G T 10: 95,011,666 (GRCm39) S158* probably null Het
Dmxl1 G A 18: 49,997,545 (GRCm39) A578T probably benign Het
Drd2 A G 9: 49,318,315 (GRCm39) N419S possibly damaging Het
E4f1 T C 17: 24,666,103 (GRCm39) T232A probably damaging Het
Fat2 T A 11: 55,171,956 (GRCm39) E2919V probably damaging Het
Gc T C 5: 89,586,309 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hsd11b2 G A 8: 106,249,143 (GRCm39) V173I probably benign Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Kif18b G A 11: 102,799,015 (GRCm39) P729S possibly damaging Het
Lgi1 A G 19: 38,294,629 (GRCm39) D467G possibly damaging Het
Loxl1 A G 9: 58,219,650 (GRCm39) Y174H possibly damaging Het
Mtus1 A T 8: 41,475,592 (GRCm39) I824N probably damaging Het
Myrf C T 19: 10,192,654 (GRCm39) E622K probably benign Het
Ncam1 A G 9: 49,457,051 (GRCm39) Y416H probably damaging Het
Nceh1 A G 3: 27,280,248 (GRCm39) T132A probably benign Het
Nhlrc4 G A 17: 26,162,466 (GRCm39) P94S probably damaging Het
Or2v1 C G 11: 49,025,941 (GRCm39) D307E probably benign Het
Or52s1b A T 7: 102,822,841 (GRCm39) M1K probably null Het
Or8b1 A T 9: 38,399,821 (GRCm39) R165S possibly damaging Het
Pcdhac2 A G 18: 37,277,476 (GRCm39) Y152C probably damaging Het
Pdia3 C A 2: 121,244,611 (GRCm39) T8K possibly damaging Het
Pogz T A 3: 94,771,820 (GRCm39) V304E probably damaging Het
Snrnp200 A G 2: 127,068,007 (GRCm39) S835G possibly damaging Het
Susd4 T C 1: 182,719,635 (GRCm39) S417P probably benign Het
Thsd7b G A 1: 129,523,578 (GRCm39) R127H probably damaging Het
Tmco4 A G 4: 138,781,216 (GRCm39) D460G probably damaging Het
Ttll9 T A 2: 152,826,234 (GRCm39) M148K probably damaging Het
Ubn2 G A 6: 38,467,323 (GRCm39) C677Y probably benign Het
Vmn2r98 T C 17: 19,301,161 (GRCm39) I721T probably benign Het
Wdfy4 C A 14: 32,855,454 (GRCm39) C720F probably damaging Het
Zzef1 G A 11: 72,807,347 (GRCm39) D2742N probably damaging Het
Other mutations in Aqp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Aqp2 APN 15 99,479,983 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers
Posted On 2016-10-26