Incidental Mutation 'R5901:Aqp8'
ID 456324
Institutional Source Beutler Lab
Gene Symbol Aqp8
Ensembl Gene ENSMUSG00000030762
Gene Name aquaporin 8
Synonyms
MMRRC Submission 043239-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R5901 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 123061517-123067226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123061807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 8 (C8Y)
Ref Sequence ENSEMBL: ENSMUSP00000033023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033023] [ENSMUST00000098056]
AlphaFold P56404
Predicted Effect probably damaging
Transcript: ENSMUST00000033023
AA Change: C8Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762
AA Change: C8Y

DomainStartEndE-ValueType
Pfam:MIP 30 245 1.6e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098056
AA Change: C9Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762
AA Change: C9Y

DomainStartEndE-ValueType
Pfam:MIP 10 176 6.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206106
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene results in enlarged testes and a reduction in water permeability in plasma membrane of testes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik T A 11: 99,728,163 (GRCm39) S227C unknown Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts15 C T 9: 30,813,786 (GRCm39) R793H probably damaging Het
Ankra2 A G 13: 98,407,644 (GRCm39) E38G probably damaging Het
Atg9b A G 5: 24,597,017 (GRCm39) probably benign Het
Atp6v1b1 A G 6: 83,735,339 (GRCm39) E469G possibly damaging Het
B4gat1 T A 19: 5,089,241 (GRCm39) Y79* probably null Het
BB019430 T A 10: 58,540,014 (GRCm39) noncoding transcript Het
Calhm3 T C 19: 47,146,052 (GRCm39) Y51C probably damaging Het
Ccr2 C T 9: 123,906,239 (GRCm39) T173I possibly damaging Het
Cfap43 T C 19: 47,885,538 (GRCm39) D359G probably damaging Het
Dop1b A G 16: 93,566,639 (GRCm39) E1022G possibly damaging Het
Drd2 T A 9: 49,318,259 (GRCm39) C400* probably null Het
Efcab7 T A 4: 99,766,941 (GRCm39) H495Q probably damaging Het
Faim T C 9: 98,874,195 (GRCm39) V29A probably benign Het
Fancd2 T C 6: 113,526,326 (GRCm39) S350P probably damaging Het
Fbxw16 T C 9: 109,270,285 (GRCm39) E152G probably benign Het
Kif17 T C 4: 138,025,643 (GRCm39) probably null Het
Kif24 A T 4: 41,428,604 (GRCm39) S119T probably damaging Het
Ly6k A T 15: 74,670,429 (GRCm39) S38T probably benign Het
Mapk10 A G 5: 103,061,158 (GRCm39) S430P probably damaging Het
Megf10 G A 18: 57,410,180 (GRCm39) A654T probably benign Het
Mlph T C 1: 90,867,536 (GRCm39) L450P probably damaging Het
Otof T C 5: 30,532,323 (GRCm39) D1603G probably damaging Het
Pdcd11 T C 19: 47,116,771 (GRCm39) S1580P possibly damaging Het
Rad54b G A 4: 11,595,919 (GRCm39) R232H possibly damaging Het
Sar1b C T 11: 51,670,576 (GRCm39) T40I possibly damaging Het
Scyl2 C T 10: 89,496,124 (GRCm39) S242N probably benign Het
Sema4b A G 7: 79,874,715 (GRCm39) N702D possibly damaging Het
Slc16a11 A G 11: 70,107,172 (GRCm39) I394V probably benign Het
Stard9 A C 2: 120,531,851 (GRCm39) T2703P probably damaging Het
Stat5b A T 11: 100,695,733 (GRCm39) L83Q possibly damaging Het
Tas2r119 T A 15: 32,177,932 (GRCm39) V166D possibly damaging Het
Tmem117 T A 15: 94,612,839 (GRCm39) I125N probably benign Het
Tmem39a T C 16: 38,393,568 (GRCm39) I89T probably benign Het
Ubr4 T A 4: 139,178,565 (GRCm39) H3272Q probably damaging Het
Vmn1r7 T C 6: 57,001,591 (GRCm39) E223G probably damaging Het
Vmn2r78 T C 7: 86,603,796 (GRCm39) V658A probably damaging Het
Xirp2 A T 2: 67,343,410 (GRCm39) T1884S possibly damaging Het
Xkr4 A T 1: 3,286,901 (GRCm39) F430I probably damaging Het
Yae1d1 A G 13: 18,164,200 (GRCm39) M1T probably null Het
Zfand4 T C 6: 116,265,084 (GRCm39) V183A probably damaging Het
Other mutations in Aqp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Aqp8 APN 7 123,063,419 (GRCm39) missense probably damaging 1.00
IGL02580:Aqp8 APN 7 123,065,953 (GRCm39) splice site probably benign
IGL03080:Aqp8 APN 7 123,065,802 (GRCm39) splice site probably benign
R0024:Aqp8 UTSW 7 123,066,663 (GRCm39) missense probably benign 0.08
R1387:Aqp8 UTSW 7 123,065,891 (GRCm39) missense probably benign 0.34
R1402:Aqp8 UTSW 7 123,065,862 (GRCm39) missense probably damaging 1.00
R1402:Aqp8 UTSW 7 123,065,862 (GRCm39) missense probably damaging 1.00
R5659:Aqp8 UTSW 7 123,065,889 (GRCm39) nonsense probably null
R7622:Aqp8 UTSW 7 123,065,883 (GRCm39) missense possibly damaging 0.48
R7913:Aqp8 UTSW 7 123,063,495 (GRCm39) missense possibly damaging 0.88
R8808:Aqp8 UTSW 7 123,065,922 (GRCm39) missense probably damaging 1.00
R9231:Aqp8 UTSW 7 123,061,813 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGACTCTACCTCCAGTCTGTGAC -3'
(R):5'- GGAGCCCAGTATTCGGACTATTC -3'

Sequencing Primer
(F):5'- CTCCAGTCTGTGACCTAGAGATAAG -3'
(R):5'- CGGACTATTCTCAATGACCGATAG -3'
Posted On 2017-02-15