Incidental Mutation 'R5690:Aqp7'
ID 443616
Institutional Source Beutler Lab
Gene Symbol Aqp7
Ensembl Gene ENSMUSG00000028427
Gene Name aquaporin 7
Synonyms AQP7L, AQPap
MMRRC Submission 043323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5690 (G1)
Quality Score 203
Status Not validated
Chromosome 4
Chromosomal Location 41033074-41048139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41035510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 115 (T115I)
Ref Sequence ENSEMBL: ENSMUSP00000093007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]
AlphaFold O54794
Predicted Effect probably benign
Transcript: ENSMUST00000030136
AA Change: T115I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: T115I

DomainStartEndE-ValueType
Pfam:MIP 12 257 7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054945
AA Change: T115I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: T115I

DomainStartEndE-ValueType
Pfam:MIP 12 257 1.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149517
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice for one allele show decreased circulating glycerol levels and fasting hypoglycemia. Other mutant alleles show increased gonadal fat pad mass and adipocyte hypertrophy or increased urine glucose and impaired water permeability in the kidney, but have normal serum glycerol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,759,144 (GRCm39) probably benign Het
Acadl T C 1: 66,892,445 (GRCm39) Y126C probably damaging Het
Ak6 A G 13: 100,792,129 (GRCm39) probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,066,233 (GRCm39) probably benign Het
Atp6v1e1 A T 6: 120,785,317 (GRCm39) probably null Het
Axin1 A G 17: 26,413,911 (GRCm39) Y792C probably damaging Het
C1s2 T C 6: 124,607,996 (GRCm39) N233S probably benign Het
Ccer2 C A 7: 28,455,629 (GRCm39) probably benign Het
Cfap46 A G 7: 139,218,269 (GRCm39) S1481P probably benign Het
Cspg4 A T 9: 56,806,019 (GRCm39) T2277S probably benign Het
Ctsl T A 13: 64,513,022 (GRCm39) N300I probably damaging Het
Dnah2 T C 11: 69,382,370 (GRCm39) I1247V probably benign Het
Dsg3 A T 18: 20,655,108 (GRCm39) Q135L probably benign Het
Efcab14 G A 4: 115,617,244 (GRCm39) V318M possibly damaging Het
Etl4 G A 2: 20,810,647 (GRCm39) S910N probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frmd4b T C 6: 97,330,164 (GRCm39) E133G possibly damaging Het
Herc2 T C 7: 55,807,453 (GRCm39) F2514S probably benign Het
Il18rap A G 1: 40,576,272 (GRCm39) D261G possibly damaging Het
Klk1b16 A G 7: 43,790,318 (GRCm39) probably null Het
Lrp1b A C 2: 40,640,906 (GRCm39) probably null Het
Mrpl45 C A 11: 97,212,412 (GRCm39) probably benign Het
Myh13 A G 11: 67,220,101 (GRCm39) E150G probably damaging Het
Nbas T A 12: 13,386,285 (GRCm39) V737D probably damaging Het
Ncr1 T C 7: 4,341,296 (GRCm39) Y59H probably damaging Het
Nt5c1a T A 4: 123,109,732 (GRCm39) V277E probably damaging Het
Ogfod1 T A 8: 94,784,769 (GRCm39) S343T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pnpla1 A T 17: 29,097,346 (GRCm39) I171F probably damaging Het
Rab5if G A 2: 156,707,234 (GRCm39) V58I probably benign Het
Rdh8 A G 9: 20,736,785 (GRCm39) N259S probably damaging Het
Resf1 T C 6: 149,229,735 (GRCm39) L927S possibly damaging Het
Slc22a12 A G 19: 6,586,878 (GRCm39) M496T probably benign Het
Slc8b1 G A 5: 120,651,270 (GRCm39) W10* probably null Het
Smarcc2 G A 10: 128,320,276 (GRCm39) G887S probably damaging Het
Smc1b A G 15: 84,996,974 (GRCm39) S549P probably damaging Het
Synj2 A G 17: 6,085,802 (GRCm39) M1181V probably benign Het
Tbx15 T C 3: 99,216,166 (GRCm39) S76P probably damaging Het
Tbx2 A T 11: 85,727,879 (GRCm39) I271F probably damaging Het
Thap4 A G 1: 93,644,352 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,306 (GRCm39) Y333C probably damaging Het
Trcg1 C T 9: 57,149,094 (GRCm39) P222L probably benign Het
Tubb3 T C 8: 124,148,045 (GRCm39) V326A probably benign Het
Unc80 A C 1: 66,679,731 (GRCm39) I2101L probably benign Het
Vmn1r19 T C 6: 57,381,780 (GRCm39) L111S probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Xpo4 T C 14: 57,828,446 (GRCm39) I805V probably benign Het
Other mutations in Aqp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Aqp7 APN 4 41,045,321 (GRCm39) nonsense probably null
IGL01871:Aqp7 APN 4 41,045,321 (GRCm39) nonsense probably null
IGL02173:Aqp7 APN 4 41,034,379 (GRCm39) nonsense probably null
IGL03139:Aqp7 APN 4 41,045,326 (GRCm39) missense probably benign 0.00
IGL03237:Aqp7 APN 4 41,034,884 (GRCm39) missense possibly damaging 0.68
IGL03241:Aqp7 APN 4 41,045,270 (GRCm39) splice site probably benign
IGL03055:Aqp7 UTSW 4 41,045,326 (GRCm39) missense probably benign 0.00
R0884:Aqp7 UTSW 4 41,034,929 (GRCm39) missense possibly damaging 0.86
R1617:Aqp7 UTSW 4 41,036,109 (GRCm39) missense probably null 0.74
R3551:Aqp7 UTSW 4 41,045,329 (GRCm39) missense probably benign 0.04
R5340:Aqp7 UTSW 4 41,034,347 (GRCm39) missense probably benign
R5689:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5691:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5692:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5710:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5711:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5713:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5751:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5817:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5820:Aqp7 UTSW 4 41,035,510 (GRCm39) missense probably benign 0.00
R5921:Aqp7 UTSW 4 41,036,093 (GRCm39) missense probably benign
R8422:Aqp7 UTSW 4 41,035,622 (GRCm39) missense probably benign 0.02
R8697:Aqp7 UTSW 4 41,045,305 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGGGCTTTACTCTACTAGGG -3'
(R):5'- TGCGGTCTTTTCACAGAGAAC -3'

Sequencing Primer
(F):5'- GCTTTACTCTACTAGGGTTGGG -3'
(R):5'- GGTCTTTTCACAGAGAACATCCC -3'
Posted On 2016-11-09