Incidental Mutation 'R1402:Aqp8'
ID 500219
Institutional Source Beutler Lab
Gene Symbol Aqp8
Ensembl Gene ENSMUSG00000030762
Gene Name aquaporin 8
Synonyms
MMRRC Submission 039464-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R1402 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 123061517-123067226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123065862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 219 (V219E)
Ref Sequence ENSEMBL: ENSMUSP00000095664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033023] [ENSMUST00000098056]
AlphaFold P56404
Predicted Effect probably damaging
Transcript: ENSMUST00000033023
AA Change: V218E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762
AA Change: V218E

DomainStartEndE-ValueType
Pfam:MIP 30 245 1.6e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098056
AA Change: V219E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762
AA Change: V219E

DomainStartEndE-ValueType
Pfam:MIP 10 176 6.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206106
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 96.3%
  • 10x: 80.0%
  • 20x: 46.3%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Dlg5 T C 14: 24,226,676 (GRCm39) S409G probably benign Het
Ehmt2 C T 17: 35,125,757 (GRCm39) T607I probably benign Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
H2-T22 A T 17: 36,351,161 (GRCm39) I307N possibly damaging Het
Itih3 T C 14: 30,630,665 (GRCm39) D882G probably damaging Het
Kmt5c G T 7: 4,745,252 (GRCm39) R81L possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nr1i2 A G 16: 38,073,245 (GRCm39) S244P probably damaging Het
Pcx A G 19: 4,652,058 (GRCm39) D101G possibly damaging Het
Prkch T C 12: 73,632,163 (GRCm39) V76A probably damaging Het
Skic3 A G 13: 76,279,533 (GRCm39) Y655C probably damaging Het
Thsd1 A G 8: 22,749,384 (GRCm39) K691E possibly damaging Het
Tmprss11e G A 5: 86,863,477 (GRCm39) T196I probably damaging Het
Trappc13 A G 13: 104,286,624 (GRCm39) V211A probably damaging Het
Vav1 C A 17: 57,610,849 (GRCm39) L472I probably benign Het
Wdr25 G A 12: 108,992,465 (GRCm39) E459K probably damaging Het
Zdbf2 A T 1: 63,342,786 (GRCm39) E388D possibly damaging Het
Zfp663 T C 2: 165,195,890 (GRCm39) K110E probably benign Het
Zfp78 C A 7: 6,381,618 (GRCm39) H223N 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
R5659:Aqp8 UTSW 7 123,065,889 (GRCm39) nonsense probably null
R5901:Aqp8 UTSW 7 123,061,807 (GRCm39) missense probably damaging 0.99
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'- TGTAGCAATCACCCTTTGTCAGCC -3'
(R):5'- CAGCACACTTCCCTCTGAAGATTCC -3'

Sequencing Primer
(F):5'- TTGTCAGCCTAGAGCTAAGC -3'
(R):5'- GAAGATTCCCATTTTCCTCCAAGG -3'
Posted On 2017-12-01