Incidental Mutation 'R4904:Aqp9'
ID 378039
Institutional Source Beutler Lab
Gene Symbol Aqp9
Ensembl Gene ENSMUSG00000032204
Gene Name aquaporin 9
Synonyms 1700020I22Rik
MMRRC Submission 042507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R4904 (G1)
Quality Score 163
Status Validated
Chromosome 9
Chromosomal Location 71017941-71075170 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 71069685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060917] [ENSMUST00000074465] [ENSMUST00000113570] [ENSMUST00000144618]
AlphaFold Q9JJJ3
Predicted Effect unknown
Transcript: ENSMUST00000060917
AA Change: S35A
SMART Domains Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: S35A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:MIP 58 288 1.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074465
SMART Domains Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204

DomainStartEndE-ValueType
Pfam:MIP 17 262 4.5e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113570
SMART Domains Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204

DomainStartEndE-ValueType
Pfam:MIP 17 262 4.5e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214960
Predicted Effect probably benign
Transcript: ENSMUST00000144618
SMART Domains Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204

DomainStartEndE-ValueType
Pfam:MIP 17 164 9.4e-31 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 129,906,332 (GRCm39) I920S possibly damaging Het
Afap1l1 A G 18: 61,871,786 (GRCm39) I556T probably benign Het
Ankfy1 C A 11: 72,642,931 (GRCm39) H665N probably benign Het
Arhgap21 A G 2: 20,854,872 (GRCm39) S1497P probably benign Het
Armc7 A G 11: 115,379,800 (GRCm39) D166G probably damaging Het
Arrdc1 C A 2: 24,816,676 (GRCm39) V167F possibly damaging Het
Col6a3 A T 1: 90,729,164 (GRCm39) I1259N probably damaging Het
Coq8a C T 1: 180,006,168 (GRCm39) R207Q probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcbld1 C T 10: 52,196,066 (GRCm39) Q425* probably null Het
Def8 A G 8: 124,188,219 (GRCm39) N445D probably damaging Het
Dicer1 C T 12: 104,679,325 (GRCm39) V551I probably benign Het
Dst A T 1: 34,208,879 (GRCm39) T800S probably damaging Het
Dtl A T 1: 191,300,457 (GRCm39) C136S probably damaging Het
Duox1 T A 2: 122,151,345 (GRCm39) Y310N probably damaging Het
Duxf1 T A 10: 58,059,309 (GRCm39) R482* probably null Het
Ebf1 T C 11: 44,759,996 (GRCm39) F211S probably damaging Het
Gm44501 A T 17: 40,889,884 (GRCm39) I133F possibly damaging Het
Gm6625 T C 8: 89,873,379 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,713,748 (GRCm39) D243V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l G A 17: 88,997,471 (GRCm39) probably null Het
Herc2 T C 7: 55,807,234 (GRCm39) F2471L probably damaging Het
Hfe A T 13: 23,892,037 (GRCm39) I109N probably damaging Het
Hrg A G 16: 22,770,000 (GRCm39) E43G probably benign Het
Hspa1a T C 17: 35,189,427 (GRCm39) D492G probably damaging Het
Itgb8 T C 12: 119,134,606 (GRCm39) D487G probably benign Het
Jag1 A G 2: 136,929,062 (GRCm39) V798A probably damaging Het
Kcnq5 A G 1: 21,494,324 (GRCm39) V501A probably damaging Het
Kntc1 T C 5: 123,916,396 (GRCm39) V743A possibly damaging Het
Ly86 G T 13: 37,599,496 (GRCm39) V126F possibly damaging Het
Med26 A T 8: 73,250,691 (GRCm39) L136H probably damaging Het
Mpp3 T C 11: 101,891,413 (GRCm39) D575G probably benign Het
Myoc G A 1: 162,466,994 (GRCm39) M54I probably benign Het
Nlrp1c-ps A G 11: 71,133,454 (GRCm39) noncoding transcript Het
Or10v9 C T 19: 11,833,231 (GRCm39) V29M possibly damaging Het
Or51t4 A G 7: 102,598,272 (GRCm39) Y190C probably damaging Het
Or5v1b A G 17: 37,841,522 (GRCm39) Y218C probably damaging Het
Pak5 A T 2: 135,925,267 (GRCm39) D678E probably benign Het
Pcdhb12 T C 18: 37,570,909 (GRCm39) V685A possibly damaging Het
Pcdhga2 A G 18: 37,802,932 (GRCm39) T259A possibly damaging Het
Pde6a A T 18: 61,398,105 (GRCm39) M702L probably benign Het
Pigq A G 17: 26,150,034 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ptch1 A C 13: 63,670,818 (GRCm39) I904S probably damaging Het
Rflnb A T 11: 75,912,964 (GRCm39) C141* probably null Het
Rilpl1 C A 5: 124,652,807 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,358,544 (GRCm39) S217P possibly damaging Het
Rpgrip1 A T 14: 52,397,586 (GRCm39) I1292F probably damaging Het
Sema3a A C 5: 13,631,066 (GRCm39) Y534S probably damaging Het
Sez6 A G 11: 77,866,080 (GRCm39) Y736C probably damaging Het
Shank1 G T 7: 43,983,464 (GRCm39) probably benign Het
Slc45a4 G A 15: 73,458,691 (GRCm39) S294F probably benign Het
Slc9a8 A G 2: 167,313,316 (GRCm39) I393V possibly damaging Het
Sod1 T A 16: 90,019,732 (GRCm39) F46Y probably damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Syn3 T G 10: 86,302,950 (GRCm39) K68N possibly damaging Het
Taar8c C T 10: 23,977,147 (GRCm39) V222I probably benign Het
Tbx20 T C 9: 24,670,129 (GRCm39) K235E probably damaging Het
Tcaf3 C A 6: 42,570,931 (GRCm39) E274* probably null Het
Tll1 A T 8: 64,523,233 (GRCm39) M493K probably benign Het
Tmem236 T A 2: 14,200,803 (GRCm39) S123T probably benign Het
Trim33 T C 3: 103,238,963 (GRCm39) V647A possibly damaging Het
Tspear T A 10: 77,705,489 (GRCm39) Y296N possibly damaging Het
Vps13d T C 4: 144,882,015 (GRCm39) K1187E probably damaging Het
Xpot C T 10: 121,453,083 (GRCm39) V52I probably benign Het
Zdhhc3 A T 9: 122,929,452 (GRCm39) V61E probably damaging Het
Zfp955a A T 17: 33,461,162 (GRCm39) C323* probably null 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
R0751:Aqp9 UTSW 9 71,045,487 (GRCm39) missense probably damaging 1.00
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
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'- GACCTTGAGAGATTTGCTCAAGTC -3'
(R):5'- TGGTCAATAGATAGCGTGGAAC -3'

Sequencing Primer
(F):5'- GAGAGATTTGCTCAAGTCAAGTTC -3'
(R):5'- TGCCAAGAGAGGTGCCTG -3'
Posted On 2016-04-15