Incidental Mutation 'R0751:Aqp9'
ID 70334
Institutional Source Beutler Lab
Gene Symbol Aqp9
Ensembl Gene ENSMUSG00000032204
Gene Name aquaporin 9
Synonyms 1700020I22Rik
MMRRC Submission 038931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0751 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 71017941-71075170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71045487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 41 (C41S)
Ref Sequence ENSEMBL: ENSMUSP00000116785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060917] [ENSMUST00000074465] [ENSMUST00000113570] [ENSMUST00000144618]
AlphaFold Q9JJJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000060917
AA Change: C67S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: C67S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:MIP 58 288 1.1e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074465
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: C41S

DomainStartEndE-ValueType
Pfam:MIP 17 262 4.5e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113570
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: C41S

DomainStartEndE-ValueType
Pfam:MIP 17 262 4.5e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144618
AA Change: C41S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
AA Change: C41S

DomainStartEndE-ValueType
Pfam:MIP 17 164 9.4e-31 PFAM
Meta Mutation Damage Score 0.7405 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: This gene encodes a member of the aquaglyceroporin subfamily of aquaporins. This protein transports water, glycerol, urea, purines and pyrimidines and plays a role in glycerol metabolism and osteoclast differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T A 4: 132,792,707 (GRCm39) M1316K probably benign Het
Alox12 T C 11: 70,137,776 (GRCm39) I455V probably benign Het
Ankrd28 A G 14: 31,486,225 (GRCm39) L89P probably damaging Het
Arhgap17 T C 7: 122,913,913 (GRCm39) Y199C probably damaging Het
Aspm A T 1: 139,384,636 (GRCm39) probably benign Het
Cacfd1 T C 2: 26,908,993 (GRCm39) probably null Het
Cd33 T C 7: 43,181,545 (GRCm39) D205G probably damaging Het
Chadl T C 15: 81,577,258 (GRCm39) S198G probably benign Het
Chtf8 A G 8: 107,613,109 (GRCm39) probably null Het
Clec4a4 G T 6: 122,989,671 (GRCm39) W104L probably benign Het
Clock A T 5: 76,377,208 (GRCm39) I696K possibly damaging Het
Crtc2 T A 3: 90,169,940 (GRCm39) Y445* probably null Het
Dapk1 A T 13: 60,844,112 (GRCm39) I44F probably damaging Het
Dcbld2 T A 16: 58,270,204 (GRCm39) probably null Het
Derl2 T C 11: 70,905,373 (GRCm39) probably null Het
Dnah7c A G 1: 46,505,065 (GRCm39) T154A probably benign Het
Dnmt3b T A 2: 153,516,762 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,554 (GRCm39) S106T probably benign Het
Eftud2 A G 11: 102,730,079 (GRCm39) V897A probably damaging Het
Eif3l T A 15: 78,959,966 (GRCm39) probably null Het
Fbxo33 A C 12: 59,265,878 (GRCm39) F130V probably damaging Het
Ffar3 T A 7: 30,554,529 (GRCm39) N264Y probably damaging Het
Fig4 T C 10: 41,148,978 (GRCm39) D158G probably damaging Het
Fyco1 A G 9: 123,648,218 (GRCm39) F1239L probably damaging Het
Gabra2 A G 5: 71,249,442 (GRCm39) probably benign Het
Gabra6 C A 11: 42,205,844 (GRCm39) R336S probably benign Het
Hkdc1 T C 10: 62,234,452 (GRCm39) D581G probably damaging Het
Ift70a2 C T 2: 75,808,375 (GRCm39) A46T probably damaging Het
Iqgap1 A G 7: 80,375,321 (GRCm39) probably benign Het
Larp4b T C 13: 9,216,345 (GRCm39) probably benign Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Lrrc8a T C 2: 30,146,362 (GRCm39) V392A possibly damaging Het
Mavs A T 2: 131,088,684 (GRCm39) Y496F probably damaging Het
Mpi A T 9: 57,457,897 (GRCm39) S102T probably damaging Het
Mroh9 G A 1: 162,893,693 (GRCm39) R161W possibly damaging Het
Myo1h A T 5: 114,458,747 (GRCm39) S161C probably damaging Het
Napg T G 18: 63,127,409 (GRCm39) H204Q probably benign Het
Nelfcd C A 2: 174,264,807 (GRCm39) A182D probably benign Het
Ntsr2 G T 12: 16,704,031 (GRCm39) K91N probably damaging Het
Obscn A G 11: 58,972,645 (GRCm39) S2134P probably damaging Het
Ogfod2 G A 5: 124,251,539 (GRCm39) probably benign Het
Or13a19 G A 7: 139,903,238 (GRCm39) V209I probably benign Het
Or1e26 G T 11: 73,479,970 (GRCm39) T198K probably benign Het
Pcdha8 T C 18: 37,127,123 (GRCm39) V535A probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3r1 T C 13: 101,822,866 (GRCm39) probably null Het
Pimreg C A 11: 71,933,939 (GRCm39) Q22K probably benign Het
Pld5 A G 1: 175,872,462 (GRCm39) I225T probably damaging Het
Plxnc1 T C 10: 94,667,195 (GRCm39) probably benign Het
Ppip5k2 A T 1: 97,677,377 (GRCm39) C306* probably null Het
Ptprc A G 1: 138,020,668 (GRCm39) Y588H probably damaging Het
Rac2 T G 15: 78,450,145 (GRCm39) D65A possibly damaging Het
Rgl3 A G 9: 21,888,676 (GRCm39) probably null Het
Serpinb1a T C 13: 33,027,199 (GRCm39) K248E probably benign Het
Serpinb9e A C 13: 33,443,757 (GRCm39) E259A probably benign Het
Slc12a4 A T 8: 106,678,532 (GRCm39) V266E probably damaging Het
Slc8b1 A G 5: 120,662,260 (GRCm39) probably benign Het
Spink6 T C 18: 44,204,605 (GRCm39) probably benign Het
Spta1 G A 1: 174,012,256 (GRCm39) R354H probably damaging Het
Ssb T A 2: 69,700,909 (GRCm39) S330T probably benign Het
Stard9 G T 2: 120,527,966 (GRCm39) V1408F probably benign Het
Sumf2 A T 5: 129,878,846 (GRCm39) T61S probably benign Het
Sypl2 T C 3: 108,124,072 (GRCm39) T157A probably damaging Het
Tgfbr3 A T 5: 107,287,749 (GRCm39) D483E probably damaging Het
Tnrc6a A G 7: 122,769,563 (GRCm39) N451S possibly damaging Het
Tradd T C 8: 105,986,403 (GRCm39) E123G probably damaging Het
Trim36 T C 18: 46,329,318 (GRCm39) T41A probably damaging Het
Ttll7 C T 3: 146,645,746 (GRCm39) P535S probably damaging Het
Ubr4 C T 4: 139,164,509 (GRCm39) probably benign Het
Uqcc5 G T 14: 30,810,953 (GRCm39) probably benign Het
Vmn1r195 A G 13: 22,463,181 (GRCm39) Y217C probably damaging Het
Vmn2r63 A C 7: 42,577,459 (GRCm39) F360V probably damaging Het
Vmn2r78 G A 7: 86,603,588 (GRCm39) V589M possibly damaging Het
Vmn2r-ps158 A G 7: 42,696,833 (GRCm39) Y630C probably damaging Het
Vrk2 A G 11: 26,433,331 (GRCm39) probably benign Het
Other mutations in Aqp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Aqp9 APN 9 71,040,013 (GRCm39) missense probably damaging 1.00
IGL01012:Aqp9 APN 9 71,037,831 (GRCm39) splice site probably benign
IGL01667:Aqp9 APN 9 71,045,495 (GRCm39) missense probably benign 0.13
IGL02225:Aqp9 APN 9 71,037,829 (GRCm39) splice site probably benign
IGL02389:Aqp9 APN 9 71,030,188 (GRCm39) missense possibly damaging 0.80
IGL02551:Aqp9 APN 9 71,039,922 (GRCm39) missense probably damaging 0.98
IGL02904:Aqp9 APN 9 71,045,430 (GRCm39) missense probably damaging 0.98
R0411:Aqp9 UTSW 9 71,037,726 (GRCm39) missense probably benign 0.00
R1656:Aqp9 UTSW 9 71,045,385 (GRCm39) missense probably benign 0.01
R1731:Aqp9 UTSW 9 71,030,250 (GRCm39) missense possibly damaging 0.91
R1733:Aqp9 UTSW 9 71,019,624 (GRCm39) missense possibly damaging 0.67
R1865:Aqp9 UTSW 9 71,019,658 (GRCm39) missense probably benign 0.29
R4058:Aqp9 UTSW 9 71,037,726 (GRCm39) missense probably benign 0.00
R4756:Aqp9 UTSW 9 71,070,331 (GRCm39) missense probably damaging 1.00
R4771:Aqp9 UTSW 9 71,030,152 (GRCm39) missense probably damaging 1.00
R4904:Aqp9 UTSW 9 71,069,685 (GRCm39) intron probably benign
R5334:Aqp9 UTSW 9 71,030,292 (GRCm39) critical splice acceptor site probably null
R5511:Aqp9 UTSW 9 71,070,375 (GRCm39) utr 5 prime probably benign
R5771:Aqp9 UTSW 9 71,030,146 (GRCm39) missense probably damaging 1.00
R6329:Aqp9 UTSW 9 71,039,966 (GRCm39) nonsense probably null
R6831:Aqp9 UTSW 9 71,069,702 (GRCm39) intron probably benign
R6838:Aqp9 UTSW 9 71,019,498 (GRCm39) missense probably benign 0.41
R7337:Aqp9 UTSW 9 71,069,764 (GRCm39) missense probably benign 0.23
R7466:Aqp9 UTSW 9 71,070,543 (GRCm39) splice site probably null
R7946:Aqp9 UTSW 9 71,030,290 (GRCm39) missense probably damaging 1.00
R8316:Aqp9 UTSW 9 71,045,495 (GRCm39) missense probably benign 0.13
R8885:Aqp9 UTSW 9 71,069,593 (GRCm39) intron probably benign
R8968:Aqp9 UTSW 9 71,045,485 (GRCm39) nonsense probably null
R9497:Aqp9 UTSW 9 71,069,651 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AACATGTAGAGTGACCAACACTGCC -3'
(R):5'- AGCTGGAATCATCCCGTATGCATTG -3'

Sequencing Primer
(F):5'- accaacactgccagcac -3'
(R):5'- GTAAGATTCATTCACCTGTGGC -3'
Posted On 2013-09-30