Incidental Mutation 'R7913:Aqp8'
ID 610671
Institutional Source Beutler Lab
Gene Symbol Aqp8
Ensembl Gene ENSMUSG00000030762
Gene Name aquaporin 8
Synonyms
MMRRC Submission 045961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7913 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 123061517-123067226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123063495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 115 (I115N)
Ref Sequence ENSEMBL: ENSMUSP00000095664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033023] [ENSMUST00000098056]
AlphaFold P56404
Predicted Effect possibly damaging
Transcript: ENSMUST00000033023
AA Change: I114N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762
AA Change: I114N

DomainStartEndE-ValueType
Pfam:MIP 30 245 1.6e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098056
AA Change: I115N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762
AA Change: I115N

DomainStartEndE-ValueType
Pfam:MIP 10 176 6.4e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (65/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apaf1 A G 10: 90,896,133 (GRCm39) V324A probably damaging Het
Atrn G A 2: 130,812,131 (GRCm39) C692Y probably damaging Het
Card10 A T 15: 78,665,303 (GRCm39) S717T possibly damaging Het
Cep78 T C 19: 15,947,941 (GRCm39) S408G probably benign Het
Col24a1 G T 3: 145,137,621 (GRCm39) G895* probably null Het
Cs A T 10: 128,186,310 (GRCm39) K34N possibly damaging Het
Dchs1 T C 7: 105,408,435 (GRCm39) E1799G possibly damaging Het
Dlg5 A T 14: 24,187,192 (GRCm39) probably null Het
Dpy19l4 A T 4: 11,265,859 (GRCm39) Y696* probably null Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Fgd2 G T 17: 29,593,019 (GRCm39) R423L probably damaging Het
Fmo4 T C 1: 162,621,741 (GRCm39) D490G possibly damaging Het
Gm5113 A T 7: 29,877,648 (GRCm39) probably benign Het
Grid1 T A 14: 35,291,654 (GRCm39) W854R probably damaging Het
H2-M1 T C 17: 36,981,129 (GRCm39) probably null Het
Hivep1 T A 13: 42,309,842 (GRCm39) M694K probably benign Het
Hsd17b6 T C 10: 127,833,645 (GRCm39) T79A possibly damaging Het
Hspa4 A C 11: 53,153,134 (GRCm39) V761G probably benign Het
Ifi203 T C 1: 173,754,523 (GRCm39) Y736C probably damaging Het
Mettl9 T A 7: 120,675,524 (GRCm39) L308Q probably damaging Het
Miox A G 15: 89,220,785 (GRCm39) D230G probably damaging Het
Ncapd3 T A 9: 26,959,522 (GRCm39) C319* probably null Het
Ncs1 C A 2: 31,177,296 (GRCm39) probably null Het
Nell1 T A 7: 49,929,270 (GRCm39) H392Q possibly damaging Het
Nlrp1b C A 11: 71,108,537 (GRCm39) E321D possibly damaging Het
Nlrp9b A T 7: 19,779,725 (GRCm39) H796L probably benign Het
Nudt16l1 C A 16: 4,757,245 (GRCm39) Q53K possibly damaging Het
Nyap1 A G 5: 137,733,231 (GRCm39) S601P probably damaging Het
Odf2l C T 3: 144,859,244 (GRCm39) Q634* probably null Het
Or10al2 A T 17: 37,982,999 (GRCm39) E28D probably benign Het
Or12e14 A G 2: 87,677,037 (GRCm39) I141V probably benign Het
Or1e22 A G 11: 73,377,224 (GRCm39) V142A probably benign Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or5b120 T A 19: 13,480,571 (GRCm39) V288E probably damaging Het
Or5m10 T A 2: 85,718,074 (GRCm39) L310H probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Pik3c2b T C 1: 133,017,799 (GRCm39) probably null Het
Pramel21 T A 4: 143,341,615 (GRCm39) Y15N possibly damaging Het
Prl3c1 A G 13: 27,383,393 (GRCm39) I40V probably benign Het
R3hdm4 C T 10: 79,747,779 (GRCm39) A229T probably damaging Het
Rab3gap2 T C 1: 184,995,013 (GRCm39) S851P possibly damaging Het
Ralgapb A T 2: 158,307,859 (GRCm39) I1056F probably damaging Het
Sec16b T C 1: 157,356,899 (GRCm39) Y36H probably benign Het
Setd3 A T 12: 108,073,924 (GRCm39) V451D probably benign Het
Slc35e1 T C 8: 73,238,506 (GRCm39) K334R probably damaging Het
Synj1 A T 16: 90,788,315 (GRCm39) N184K possibly damaging Het
Syt1 T C 10: 108,478,109 (GRCm39) D105G probably benign Het
Taar7e T A 10: 23,913,902 (GRCm39) C131S possibly damaging Het
Tead4 A G 6: 128,220,331 (GRCm39) probably null Het
Tescl C A 7: 24,033,076 (GRCm39) R83L probably damaging Het
Ufd1 G T 16: 18,633,616 (GRCm39) V14F probably benign Het
Ugt1a10 T A 1: 87,983,477 (GRCm39) Y92N probably benign Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vmn2r67 G A 7: 84,801,036 (GRCm39) T300I possibly damaging Het
Wt1 T G 2: 104,997,205 (GRCm39) S381A probably damaging Het
Zbtb44 C T 9: 30,965,504 (GRCm39) Q305* probably null 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
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
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'- ACAGGCTGAAGTACATATTCCC -3'
(R):5'- TGGCATGTTCAAGTCTCCTG -3'

Sequencing Primer
(F):5'- GTACATATTCCCAAGGGATGTCC -3'
(R):5'- TGTTAGAGCCCTAAGACTGGAGTTAC -3'
Posted On 2019-12-20