Incidental Mutation 'R0884:Aqp7'
ID 81018
Institutional Source Beutler Lab
Gene Symbol Aqp7
Ensembl Gene ENSMUSG00000028427
Gene Name aquaporin 7
Synonyms AQP7L, AQPap
MMRRC Submission 039051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0884 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41033074-41048139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41034929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 175 (T175S)
Ref Sequence ENSEMBL: ENSMUSP00000093007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]
AlphaFold O54794
Predicted Effect possibly damaging
Transcript: ENSMUST00000030136
AA Change: T175S

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: T175S

DomainStartEndE-ValueType
Pfam:MIP 12 257 7e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054945
AA Change: T175S

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: T175S

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,574,624 (GRCm39) probably benign Het
Adam6b A T 12: 113,454,615 (GRCm39) R477S probably damaging Het
Bclaf1 A T 10: 20,197,822 (GRCm39) R22* probably null Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Bicc1 A C 10: 70,794,677 (GRCm39) V160G probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cep72 A G 13: 74,203,000 (GRCm39) probably null Het
Cobl A G 11: 12,325,908 (GRCm39) I196T possibly damaging Het
Cux1 T G 5: 136,336,689 (GRCm39) D941A probably damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Depdc5 T A 5: 33,075,322 (GRCm39) V500D possibly damaging Het
Dhx35 T C 2: 158,673,631 (GRCm39) I354T probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Eif4g3 C A 4: 137,879,087 (GRCm39) N588K possibly damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Fam53a T C 5: 33,758,160 (GRCm39) E321G probably benign Het
Fat4 C A 3: 39,037,007 (GRCm39) T3553K possibly damaging Het
Fer1l4 T C 2: 155,861,233 (GRCm39) T1978A possibly damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Gje1 G T 10: 14,592,484 (GRCm39) S99R possibly damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Gpnmb T C 6: 49,024,847 (GRCm39) V293A possibly damaging Het
Hyi T A 4: 118,217,414 (GRCm39) I62N probably damaging Het
Il4ra A G 7: 125,173,835 (GRCm39) I267V probably damaging Het
Kcnd2 A T 6: 21,216,540 (GRCm39) Q81H probably benign Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Lpcat4 A G 2: 112,073,077 (GRCm39) N208S probably damaging Het
Muc17 T A 5: 137,171,146 (GRCm39) T162S possibly damaging Het
Mup3 T A 4: 62,005,411 (GRCm39) I20F possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Pde4d A T 13: 110,087,474 (GRCm39) I670L probably damaging Het
Phlpp1 T A 1: 106,317,395 (GRCm39) probably null Het
Pigz A G 16: 31,760,794 (GRCm39) probably null Het
Pramel21 A G 4: 143,341,754 (GRCm39) D61G probably benign Het
Prrg4 A T 2: 104,669,707 (GRCm39) Y137N probably damaging Het
Rbm28 A T 6: 29,155,153 (GRCm39) S217T possibly damaging Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc35f1 A T 10: 52,965,443 (GRCm39) Y286F probably damaging Het
Slc6a18 G T 13: 73,815,156 (GRCm39) A384D probably damaging Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Tln2 C A 9: 67,278,015 (GRCm39) R333L probably damaging Het
Tnrc6b ACAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAG 15: 80,786,756 (GRCm39) probably benign Het
Ttn G A 2: 76,581,410 (GRCm39) T14834I possibly damaging Het
Uggt1 T C 1: 36,214,159 (GRCm39) S177G probably benign Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P probably benign Het
Zmat4 A G 8: 24,505,143 (GRCm39) T128A 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
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
Predicted Primers PCR Primer
(F):5'- TTGCCCCAGCCAGCAATGAAAG -3'
(R):5'- AGGTTCCAAGGCCACTGCAAAC -3'

Sequencing Primer
(F):5'- CAGCCAGCAATGAAAGTGAAC -3'
(R):5'- TCCTGAATACATGACACTGTGGC -3'
Posted On 2013-11-07