Incidental Mutation 'IGL03241:Aqp7'
ID414294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp7
Ensembl Gene ENSMUSG00000028427
Gene Nameaquaporin 7
SynonymsAQPap, AQP7L
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL03241
Quality Score
Status
Chromosome4
Chromosomal Location41033074-41048139 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 41045270 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]
Predicted Effect probably benign
Transcript: ENSMUST00000030136
SMART Domains Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427

DomainStartEndE-ValueType
Pfam:MIP 12 257 7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054945
SMART Domains Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427

DomainStartEndE-ValueType
Pfam:MIP 12 257 1.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157529
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik G T 13: 34,944,330 A177S probably damaging Het
Abcc12 T A 8: 86,509,807 E1126V possibly damaging Het
Acnat1 A G 4: 49,447,702 V275A probably benign Het
Adamts15 G A 9: 30,904,485 P692S probably damaging Het
Arhgap26 A T 18: 39,229,917 I413F probably damaging Het
Cdc25a T C 9: 109,884,199 probably null Het
Cdh18 C T 15: 23,226,933 T160I probably benign Het
Cfap206 T C 4: 34,711,553 Y448C probably damaging Het
Clec4a4 T C 6: 122,990,373 S3P probably damaging Het
Dhx38 A T 8: 109,562,656 H37Q possibly damaging Het
F7 A T 8: 13,028,779 E70V probably damaging Het
Nbeal1 G A 1: 60,234,869 E419K probably benign Het
Nbeal1 A T 1: 60,234,868 Q418H possibly damaging Het
Nebl A G 2: 17,393,164 probably null Het
Olfr725 T A 14: 50,035,068 M112L possibly damaging Het
Pfkm T C 15: 98,123,180 V293A probably benign Het
Slc36a3 A G 11: 55,125,108 S407P possibly damaging Het
Slc5a1 T C 5: 33,133,405 V111A probably benign Het
St6galnac5 G T 3: 152,846,586 Q115K probably benign Het
Timmdc1 G A 16: 38,510,709 probably benign Het
Trim34b T C 7: 104,334,613 probably benign Het
Trim75 A T 8: 64,982,706 I364N probably damaging Het
Vmn1r27 T A 6: 58,215,141 N293Y probably benign Het
Vmn2r88 A G 14: 51,418,373 T689A probably benign Het
Vmn2r97 T C 17: 18,928,176 V111A probably benign Het
Zfp114 C T 7: 24,181,012 T261I probably benign Het
Zfp516 A G 18: 82,987,520 T850A probably benign Het
Other mutations in Aqp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Aqp7 APN 4 41045321 nonsense probably null
IGL01871:Aqp7 APN 4 41045321 nonsense probably null
IGL02173:Aqp7 APN 4 41034379 nonsense probably null
IGL03139:Aqp7 APN 4 41045326 missense probably benign 0.00
IGL03237:Aqp7 APN 4 41034884 missense possibly damaging 0.68
acadia UTSW 4 41035510 missense probably benign 0.00
IGL03055:Aqp7 UTSW 4 41045326 missense probably benign 0.00
R0884:Aqp7 UTSW 4 41034929 missense possibly damaging 0.86
R1617:Aqp7 UTSW 4 41036109 missense probably null 0.74
R3551:Aqp7 UTSW 4 41045329 missense probably benign 0.04
R5340:Aqp7 UTSW 4 41034347 missense probably benign
R5689:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5690:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5691:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5692:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5710:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5711:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5713:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5751:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5817:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5820:Aqp7 UTSW 4 41035510 missense probably benign 0.00
R5921:Aqp7 UTSW 4 41036093 missense probably benign
Posted On2016-08-02