Incidental Mutation 'IGL02173:Aqp7'
ID 282999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp7
Ensembl Gene ENSMUSG00000028427
Gene Name aquaporin 7
Synonyms AQP7L, AQPap
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02173
Quality Score
Status
Chromosome 4
Chromosomal Location 41033074-41048139 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 41034379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 260 (L260*)
Ref Sequence ENSEMBL: ENSMUSP00000093007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]
AlphaFold O54794
Predicted Effect probably null
Transcript: ENSMUST00000030136
AA Change: L260*
SMART Domains Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: L260*

DomainStartEndE-ValueType
Pfam:MIP 12 257 7e-50 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000054945
AA Change: L260*
SMART Domains Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: L260*

DomainStartEndE-ValueType
Pfam:MIP 12 257 1.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149517
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,061,754 (GRCm39) H68L possibly damaging Het
4930533K18Rik A G 10: 70,708,060 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,443,401 (GRCm39) T182A unknown Het
Abca2 T A 2: 25,331,909 (GRCm39) D1340E probably benign Het
Abcc12 G A 8: 87,293,071 (GRCm39) A39V probably damaging Het
Acap2 T C 16: 30,926,965 (GRCm39) R510G possibly damaging Het
Ace G T 11: 105,879,817 (GRCm39) R719L probably benign Het
Adarb1 A C 10: 77,157,659 (GRCm39) F263V probably damaging Het
Ahcyl T C 16: 45,974,441 (GRCm39) N312S probably benign Het
Ambra1 T C 2: 91,748,013 (GRCm39) S1130P probably benign Het
Cntn5 G T 9: 9,748,401 (GRCm39) S493R probably damaging Het
Crhr2 A G 6: 55,080,165 (GRCm39) F138S probably damaging Het
D2hgdh T A 1: 93,757,611 (GRCm39) D175E probably benign Het
Dtx4 G T 19: 12,450,621 (GRCm39) Y530* probably null Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Etv6 A G 6: 134,225,690 (GRCm39) D218G possibly damaging Het
Exoc5 A G 14: 49,272,258 (GRCm39) probably benign Het
Fyb1 C T 15: 6,610,176 (GRCm39) P250S probably benign Het
Gaa A G 11: 119,165,739 (GRCm39) Y84C probably damaging Het
Galns A T 8: 123,325,365 (GRCm39) S262R probably damaging Het
Gfus A G 15: 75,798,034 (GRCm39) S233P probably damaging Het
Kctd16 T C 18: 40,663,906 (GRCm39) I345T probably benign Het
Lats2 A G 14: 57,934,717 (GRCm39) V671A probably damaging Het
Maml3 C A 3: 51,598,208 (GRCm39) L179F probably damaging Het
Myo1f T C 17: 33,826,318 (GRCm39) L1089P probably damaging Het
Nadsyn1 A T 7: 143,357,743 (GRCm39) probably benign Het
Or1e34 A G 11: 73,778,949 (GRCm39) M83T possibly damaging Het
Or51k1 G A 7: 103,661,037 (GRCm39) P291S probably damaging Het
Or7d9 T C 9: 20,197,691 (GRCm39) V240A probably benign Het
Or9i1 A G 19: 13,839,378 (GRCm39) T74A probably benign Het
Otog T C 7: 45,926,165 (GRCm39) probably benign Het
Pcbd1 A G 10: 60,927,983 (GRCm39) probably benign Het
Pced1a A G 2: 130,264,248 (GRCm39) V164A possibly damaging Het
Pgd A G 4: 149,241,210 (GRCm39) I233T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sec24d A T 3: 123,147,330 (GRCm39) H733L probably damaging Het
Slc1a2 T A 2: 102,574,206 (GRCm39) N205K probably benign Het
Sstr2 G T 11: 113,515,842 (GRCm39) V254L probably damaging Het
Tm9sf2 G T 14: 122,380,835 (GRCm39) V308F probably benign Het
Tor3a T C 1: 156,501,776 (GRCm39) K34E probably benign Het
Ubr4 T A 4: 139,164,381 (GRCm39) probably null Het
Vmn1r56 A G 7: 5,199,117 (GRCm39) S167P probably damaging Het
Zswim3 T A 2: 164,662,759 (GRCm39) I413N probably damaging 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
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
R5690: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
Posted On 2015-04-16