Incidental Mutation 'IGL01862:Aqp7'
ID278935
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 #IGL01862
Quality Score
Status
Chromosome4
Chromosomal Location41033074-41048139 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 41045321 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 20 (R20*)
Ref Sequence ENSEMBL: ENSMUSP00000093007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]
Predicted Effect probably null
Transcript: ENSMUST00000030136
AA Change: R20*
SMART Domains Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: R20*

DomainStartEndE-ValueType
Pfam:MIP 12 257 7e-50 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000054945
AA Change: R20*
SMART Domains Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: R20*

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik G A 1: 134,390,611 V374I probably benign Het
Abca8b G T 11: 109,947,171 S1085* probably null Het
Akap9 T G 5: 3,951,705 S94A probably damaging Het
Akap9 T A 5: 4,065,856 N3425K probably damaging Het
Anapc7 T A 5: 122,440,119 I389N probably benign Het
Cacna1h C T 17: 25,383,483 G1524R probably damaging Het
Cacng4 T C 11: 107,794,370 Y32C probably damaging Het
Ccdc130 G T 8: 84,260,534 probably benign Het
Cep120 A C 18: 53,714,767 S673R probably benign Het
Cep162 T C 9: 87,253,933 E19G possibly damaging Het
Cpxm2 C T 7: 132,059,811 V416I probably benign Het
Dapk1 A G 13: 60,726,610 T427A probably benign Het
Ecm1 A T 3: 95,734,273 D549E probably benign Het
Efemp1 T A 11: 28,921,428 N342K probably damaging Het
Erc2 T C 14: 28,271,569 probably benign Het
Fam160b2 C T 14: 70,587,690 R402H probably benign Het
Galnt13 T C 2: 54,857,914 V269A probably damaging Het
Gm6465 T G 5: 11,849,053 L171R probably damaging Het
Gpatch1 A G 7: 35,295,278 V521A probably benign Het
Heatr5b A T 17: 78,796,485 V1087E possibly damaging Het
Ikzf2 A T 1: 69,538,898 V484D probably damaging Het
Ints4 T A 7: 97,541,153 V953E probably damaging Het
Iqce T C 5: 140,699,725 D15G possibly damaging Het
Kif3a T A 11: 53,570,541 N4K possibly damaging Het
Lrch4 A T 5: 137,637,009 I254F probably damaging Het
Ly75 A T 2: 60,299,172 V1623D probably damaging Het
Mapt T A 11: 104,290,002 probably benign Het
Mast1 A T 8: 84,913,246 probably null Het
Mcc G T 18: 44,759,296 Q84K probably benign Het
Mtfr2 G A 10: 20,348,403 V28M probably benign Het
Myh8 T A 11: 67,289,694 Y585* probably null Het
Napsa T C 7: 44,582,493 V202A probably damaging Het
Nsd2 A G 5: 33,843,736 K199R probably null Het
Ntpcr C T 8: 125,736,098 A18V probably benign Het
Olfr1009 G T 2: 85,722,128 C241F probably damaging Het
Olfr117 G T 17: 37,659,477 N285K probably damaging Het
Olfr169 A T 16: 19,566,676 M69K probably damaging Het
Olfr689 T A 7: 105,314,232 I76N probably damaging Het
Olfr877 A G 9: 37,855,181 D121G probably damaging Het
Os9 A G 10: 127,099,704 V299A probably benign Het
Pcdhb7 T C 18: 37,343,862 S684P possibly damaging Het
Phf19 A C 2: 34,897,055 probably null Het
Pkd1l3 G A 8: 109,631,276 probably null Het
Pkhd1 A G 1: 20,358,910 I2422T probably damaging Het
Plxna2 T A 1: 194,643,950 V64E possibly damaging Het
Psme4 T A 11: 30,812,038 C459* probably null Het
Ptk6 T C 2: 181,199,640 S159G probably benign Het
Rhd T C 4: 134,890,339 I329T possibly damaging Het
Scfd1 A G 12: 51,445,711 Y601C probably damaging Het
Shroom3 T C 5: 92,962,289 S1753P probably damaging Het
Slc8a1 A C 17: 81,442,201 probably null Het
Spg7 T A 8: 123,076,930 L233Q probably damaging Het
Strip1 C A 3: 107,621,882 R353L probably damaging Het
Ubr1 T C 2: 120,934,342 N544D possibly damaging Het
Ubr4 A G 4: 139,477,158 T4794A possibly damaging Het
Usp24 A G 4: 106,408,898 probably benign Het
Vmn1r193 A T 13: 22,219,814 C3S probably benign Het
Zdhhc5 C T 2: 84,690,492 R447H probably benign Het
Zfp202 A G 9: 40,211,828 I629V probably benign Het
Zfp462 T A 4: 55,023,441 C990S probably damaging Het
Other mutations in Aqp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03241:Aqp7 APN 4 41045270 splice site probably benign
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 On2015-04-16