Incidental Mutation 'IGL01667:Aqp9'
ID103339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp9
Ensembl Gene ENSMUSG00000032204
Gene Nameaquaporin 9
Synonyms1700020I22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL01667
Quality Score
Status
Chromosome9
Chromosomal Location71110659-71168682 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71138213 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 38 (V38A)
Ref Sequence ENSEMBL: ENSMUSP00000116785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060917] [ENSMUST00000074465] [ENSMUST00000113570] [ENSMUST00000144618]
Predicted Effect probably benign
Transcript: ENSMUST00000060917
AA Change: V64A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: V64A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:MIP 58 288 1.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074465
AA Change: V38A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: V38A

DomainStartEndE-ValueType
Pfam:MIP 17 262 4.5e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113570
AA Change: V38A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: V38A

DomainStartEndE-ValueType
Pfam:MIP 17 262 4.5e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144618
AA Change: V38A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
AA Change: V38A

DomainStartEndE-ValueType
Pfam:MIP 17 164 9.4e-31 PFAM
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,570,019 T57A probably damaging Het
Akna G T 4: 63,379,159 T886N probably benign Het
Awat2 C T X: 100,404,254 G124D probably damaging Het
Camsap1 A G 2: 25,945,281 probably benign Het
Catsperg2 T C 7: 29,710,133 Y545C probably damaging Het
Cldn23 A G 8: 35,825,920 F138S possibly damaging Het
Clec4a3 A C 6: 122,952,860 probably benign Het
Dlgap3 C A 4: 127,233,897 T786K probably benign Het
Dnah2 A C 11: 69,544,395 S50A probably benign Het
Dnah2 A T 11: 69,520,941 I285N probably damaging Het
Dnah7a A G 1: 53,547,292 Y1467H probably damaging Het
Fgf22 C T 10: 79,756,754 P115L probably damaging Het
Fzd2 G T 11: 102,605,782 V351L possibly damaging Het
Gapdhs T A 7: 30,736,637 E174V possibly damaging Het
Gjc2 A C 11: 59,177,518 I46S probably damaging Het
Gm5581 T C 6: 131,167,772 noncoding transcript Het
Krt2 C A 15: 101,816,330 V282L possibly damaging Het
Myh15 G A 16: 49,195,579 V1873M probably benign Het
Myo1b T C 1: 51,760,377 T931A probably damaging Het
Myo6 A T 9: 80,289,893 K965N unknown Het
Olfr1441 T C 19: 12,422,756 V149A probably benign Het
Pcnx3 T C 19: 5,686,630 R160G probably benign Het
Slc22a16 T C 10: 40,585,018 I272T probably damaging Het
Slc35b4 A G 6: 34,167,675 Y82H possibly damaging Het
Spdya T C 17: 71,556,259 M1T probably null Het
St6gal1 A G 16: 23,321,424 N115S probably benign Het
Tbc1d12 A T 19: 38,914,300 probably benign Het
Tfrc A G 16: 32,624,443 probably benign Het
Trip11 A C 12: 101,878,862 F1539C probably damaging Het
Ttn A T 2: 76,781,078 I15624N possibly damaging Het
Vmn1r169 A T 7: 23,577,800 M206L probably benign Het
Zfp362 A G 4: 128,787,109 L141P probably damaging Het
Zfp692 A G 11: 58,311,553 H378R probably damaging Het
Zfp799 T C 17: 32,821,820 Q52R possibly damaging Het
Other mutations in Aqp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Aqp9 APN 9 71132731 missense probably damaging 1.00
IGL01012:Aqp9 APN 9 71130549 splice site probably benign
IGL02225:Aqp9 APN 9 71130547 splice site probably benign
IGL02389:Aqp9 APN 9 71122906 missense possibly damaging 0.80
IGL02551:Aqp9 APN 9 71132640 missense probably damaging 0.98
IGL02904:Aqp9 APN 9 71138148 missense probably damaging 0.98
R0411:Aqp9 UTSW 9 71130444 missense probably benign 0.00
R0751:Aqp9 UTSW 9 71138205 missense probably damaging 1.00
R1656:Aqp9 UTSW 9 71138103 missense probably benign 0.01
R1731:Aqp9 UTSW 9 71122968 missense possibly damaging 0.91
R1733:Aqp9 UTSW 9 71112342 missense possibly damaging 0.67
R1865:Aqp9 UTSW 9 71112376 missense probably benign 0.29
R4058:Aqp9 UTSW 9 71130444 missense probably benign 0.00
R4756:Aqp9 UTSW 9 71163049 missense probably damaging 1.00
R4771:Aqp9 UTSW 9 71122870 missense probably damaging 1.00
R4904:Aqp9 UTSW 9 71162403 intron probably benign
R5334:Aqp9 UTSW 9 71123010 critical splice acceptor site probably null
R5511:Aqp9 UTSW 9 71163093 utr 5 prime probably benign
R5771:Aqp9 UTSW 9 71122864 missense probably damaging 1.00
R6329:Aqp9 UTSW 9 71132684 nonsense probably null
R6831:Aqp9 UTSW 9 71162420 intron probably benign
R6838:Aqp9 UTSW 9 71112216 missense probably benign 0.41
R7337:Aqp9 UTSW 9 71162482 missense probably benign 0.23
R7466:Aqp9 UTSW 9 71163261 intron probably null
Posted On2014-01-21