Incidental Mutation 'R0024:Aqp8'
ID 15160
Institutional Source Beutler Lab
Gene Symbol Aqp8
Ensembl Gene ENSMUSG00000030762
Gene Name aquaporin 8
Synonyms
MMRRC Submission 038319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0024 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 123061517-123067226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123066663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 256 (I256T)
Ref Sequence ENSEMBL: ENSMUSP00000033023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033023] [ENSMUST00000098056]
AlphaFold P56404
Predicted Effect probably benign
Transcript: ENSMUST00000033023
AA Change: I256T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762
AA Change: I256T

DomainStartEndE-ValueType
Pfam:MIP 30 245 1.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098056
AA Change: I257T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762
AA Change: I257T

DomainStartEndE-ValueType
Pfam:MIP 10 176 6.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206106
Meta Mutation Damage Score 0.1561 question?
Coding Region Coverage
  • 1x: 79.2%
  • 3x: 69.7%
  • 10x: 44.0%
  • 20x: 23.5%
Validation Efficiency 95% (75/79)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Ahctf1 G A 1: 179,580,001 (GRCm39) T2067M probably damaging Het
Akip1 T C 7: 109,303,345 (GRCm39) S63P probably benign Het
Ankrd34c G A 9: 89,611,580 (GRCm39) P254S possibly damaging Het
Arnt2 A G 7: 83,933,334 (GRCm39) V308A probably benign Het
Astn1 G A 1: 158,511,785 (GRCm39) S1209N probably damaging Het
Atf7ip T C 6: 136,576,818 (GRCm39) probably benign Het
Bbx T A 16: 50,045,281 (GRCm39) M427L probably benign Het
Cadm4 T C 7: 24,202,169 (GRCm39) L336P probably benign Het
Camk2d A G 3: 126,591,372 (GRCm39) M281V probably benign Het
Dennd2b T C 7: 109,123,866 (GRCm39) H1131R probably damaging Het
Dll3 A G 7: 27,999,586 (GRCm39) probably benign Het
Dscam G A 16: 96,394,585 (GRCm39) R1906* probably null Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif2ak3 A G 6: 70,869,340 (GRCm39) T676A probably benign Het
Entpd5 T C 12: 84,420,507 (GRCm39) M428T probably benign Het
Fry T G 5: 150,304,268 (GRCm39) S553A probably benign Het
Gls2 G A 10: 128,035,125 (GRCm39) R86H probably damaging Het
Gm14340 T A 2: 180,466,043 (GRCm39) noncoding transcript Het
Gm9457 A C 8: 4,863,131 (GRCm39) noncoding transcript Het
Hfm1 T C 5: 107,004,790 (GRCm39) K1179E probably benign Het
Iqgap1 T C 7: 80,401,687 (GRCm39) T473A probably benign Het
Krt34 A T 11: 99,931,863 (GRCm39) C119S probably benign Het
Krt6a A G 15: 101,599,150 (GRCm39) probably benign Het
Lysmd4 A G 7: 66,875,828 (GRCm39) T164A probably benign Het
Mroh2b T A 15: 4,955,109 (GRCm39) Y701N probably damaging Het
Pi4ka T C 16: 17,133,399 (GRCm39) probably benign Het
Plcb1 A G 2: 135,204,345 (GRCm39) S900G probably benign Het
Plxna2 T A 1: 194,326,303 (GRCm39) I79N possibly damaging Het
Prpf31 C A 7: 3,639,658 (GRCm39) probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rsc1a1 T C 4: 141,412,583 (GRCm39) K110E probably benign Het
Sin3a T A 9: 57,025,537 (GRCm39) probably benign Het
Slc24a2 T C 4: 86,946,477 (GRCm39) probably benign Het
Slc6a3 A T 13: 73,688,956 (GRCm39) probably benign Het
Sugct G A 13: 17,032,454 (GRCm39) H433Y probably benign Het
Sycp2l A G 13: 41,295,264 (GRCm39) I310M probably damaging Het
Tpm3 C A 3: 89,994,756 (GRCm39) probably null Het
Ttc27 T C 17: 75,077,259 (GRCm39) F385L possibly damaging Het
Utrn A G 10: 12,281,755 (GRCm39) V3301A probably benign 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
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
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
Posted On 2012-12-12