Incidental Mutation 'R6773:Aqp6'
ID 532260
Institutional Source Beutler Lab
Gene Symbol Aqp6
Ensembl Gene ENSMUSG00000043144
Gene Name aquaporin 6
Synonyms
MMRRC Submission 044889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6773 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99499281-99503358 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99500558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 161 (D161G)
Ref Sequence ENSEMBL: ENSMUSP00000023754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023754] [ENSMUST00000230075]
AlphaFold Q8C4A0
Predicted Effect probably damaging
Transcript: ENSMUST00000023754
AA Change: D161G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023754
Gene: ENSMUSG00000043144
AA Change: D161G

DomainStartEndE-ValueType
Pfam:MIP 17 228 2.2e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230075
AA Change: D161G
Meta Mutation Damage Score 0.9004 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T A 3: 92,336,556 (GRCm39) I49F probably damaging Het
Aqr A T 2: 113,979,477 (GRCm39) N319K possibly damaging Het
Asns C A 6: 7,676,284 (GRCm39) R424L probably benign Het
Atp4a T C 7: 30,414,802 (GRCm39) V197A probably damaging Het
Ccdc70 A G 8: 22,463,321 (GRCm39) E37G probably damaging Het
Ccdc88b A T 19: 6,826,409 (GRCm39) V1102E possibly damaging Het
Cd82 G A 2: 93,252,221 (GRCm39) A130V probably benign Het
Cfap46 T C 7: 139,222,477 (GRCm39) probably benign Het
Cnot6l A C 5: 96,242,158 (GRCm39) C188W probably damaging Het
Cxcr6 A T 9: 123,639,355 (GRCm39) T119S possibly damaging Het
Dok7 G A 5: 35,234,528 (GRCm39) R193H probably damaging Het
Dpy19l1 A T 9: 24,352,068 (GRCm39) S386T probably damaging Het
Frem3 A C 8: 81,338,444 (GRCm39) T246P probably damaging Het
Gm29666 A T 15: 84,798,360 (GRCm39) I67K unknown Het
Gpr153 T A 4: 152,363,757 (GRCm39) V59E probably damaging Het
Inpp4b G A 8: 82,583,249 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,482 (GRCm39) I247V possibly damaging Het
Klri1 C T 6: 129,680,510 (GRCm39) V91M possibly damaging Het
M1ap T A 6: 82,945,061 (GRCm39) D118E probably damaging Het
Map4 T C 9: 109,863,993 (GRCm39) V406A probably benign Het
Nedd4l T C 18: 65,300,622 (GRCm39) V369A probably benign Het
Or5ac24 A T 16: 59,165,579 (GRCm39) L162I probably damaging Het
Otud4 A G 8: 80,370,435 (GRCm39) Y71C possibly damaging Het
Plcl1 A G 1: 55,790,461 (GRCm39) N1044D probably benign Het
Ppp4r3b T A 11: 29,155,639 (GRCm39) M114K probably benign Het
Prune1 T C 3: 95,171,082 (GRCm39) D114G probably damaging Het
Rad54l2 A T 9: 106,570,516 (GRCm39) V1268D probably benign Het
Rbbp6 A G 7: 122,598,578 (GRCm39) probably benign Het
Rimbp3 A T 16: 17,026,879 (GRCm39) E101V probably damaging Het
Rit1 C T 3: 88,633,676 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Shisa9 A G 16: 11,802,892 (GRCm39) T150A probably damaging Het
Smpdl3a T C 10: 57,678,533 (GRCm39) V112A probably damaging Het
Strada T A 11: 106,055,733 (GRCm39) I305F probably damaging Het
Svep1 C T 4: 58,049,146 (GRCm39) E3454K possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tmem259 T C 10: 79,813,422 (GRCm39) D519G possibly damaging Het
Tns1 T C 1: 73,958,866 (GRCm39) Q445R probably damaging Het
Topbp1 A G 9: 103,220,891 (GRCm39) D20G possibly damaging Het
Trbv5 G T 6: 41,039,551 (GRCm39) W52L probably damaging Het
Trpc6 A T 9: 8,634,058 (GRCm39) H379L probably damaging Het
Tulp1 T C 17: 28,581,876 (GRCm39) K193E probably damaging Het
Unc80 T C 1: 66,690,702 (GRCm39) V2459A probably benign Het
Vps50 T C 6: 3,592,560 (GRCm39) V731A probably benign Het
Other mutations in Aqp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Aqp6 APN 15 99,502,159 (GRCm39) missense probably benign 0.01
IGL02827:Aqp6 APN 15 99,500,892 (GRCm39) missense probably damaging 1.00
R1482:Aqp6 UTSW 15 99,502,188 (GRCm39) makesense probably null
R1708:Aqp6 UTSW 15 99,500,543 (GRCm39) missense possibly damaging 0.92
R4324:Aqp6 UTSW 15 99,499,291 (GRCm39) start codon destroyed probably null 0.08
R5756:Aqp6 UTSW 15 99,500,623 (GRCm39) missense probably damaging 0.98
R5974:Aqp6 UTSW 15 99,499,317 (GRCm39) missense probably benign 0.12
R7599:Aqp6 UTSW 15 99,501,652 (GRCm39) missense possibly damaging 0.59
R9151:Aqp6 UTSW 15 99,501,655 (GRCm39) missense possibly damaging 0.92
R9443:Aqp6 UTSW 15 99,499,409 (GRCm39) missense
X0025:Aqp6 UTSW 15 99,499,386 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTAGGGTCCTGCATCAG -3'
(R):5'- TTCCTTCAGCCACAAGAGAGG -3'

Sequencing Primer
(F):5'- GTCCTGCATCAGCCCTCAG -3'
(R):5'- CTTAGGGAGAACATTTCCTGGCC -3'
Posted On 2018-08-29