Incidental Mutation 'R8697:Aqp7'
ID 668765
Institutional Source Beutler Lab
Gene Symbol Aqp7
Ensembl Gene ENSMUSG00000028427
Gene Name aquaporin 7
Synonyms AQP7L, AQPap
MMRRC Submission 068551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8697 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41033074-41048139 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41045305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 25 (E25G)
Ref Sequence ENSEMBL: ENSMUSP00000030136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030136] [ENSMUST00000054945]
AlphaFold O54794
Predicted Effect probably damaging
Transcript: ENSMUST00000030136
AA Change: E25G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030136
Gene: ENSMUSG00000028427
AA Change: E25G

DomainStartEndE-ValueType
Pfam:MIP 12 257 7e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000054945
AA Change: E25G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093007
Gene: ENSMUSG00000028427
AA Change: E25G

DomainStartEndE-ValueType
Pfam:MIP 12 257 1.6e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (58/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik C T 1: 161,795,565 (GRCm39) A8T probably benign Het
Acacb T C 5: 114,351,441 (GRCm39) V1130A probably damaging Het
Ackr1 A G 1: 173,159,775 (GRCm39) F248S probably damaging Het
Alx4 G A 2: 93,505,657 (GRCm39) R253Q probably damaging Het
Ap3b2 T C 7: 81,122,783 (GRCm39) I485V possibly damaging Het
Cacna1g T C 11: 94,307,524 (GRCm39) N1753D probably benign Het
Cacna2d1 T A 5: 16,570,865 (GRCm39) N1063K possibly damaging Het
Cad T C 5: 31,231,945 (GRCm39) V1801A probably benign Het
Ccdc171 T C 4: 83,600,577 (GRCm39) W868R probably damaging Het
Cecr2 T C 6: 120,710,779 (GRCm39) Y165H probably damaging Het
Clip4 G T 17: 72,163,270 (GRCm39) G614V possibly damaging Het
Ctnnal1 T A 4: 56,838,986 (GRCm39) M236L probably damaging Het
Ctps1 T C 4: 120,399,947 (GRCm39) D470G probably benign Het
Dmwd A C 7: 18,812,113 (GRCm39) Q189P probably damaging Het
Dnah17 A G 11: 117,976,985 (GRCm39) I1869T possibly damaging Het
Eepd1 A G 9: 25,497,998 (GRCm39) N361S probably benign Het
Ephb6 C T 6: 41,591,157 (GRCm39) H105Y probably damaging Het
Fkbp15 A T 4: 62,239,295 (GRCm39) Y603* probably null Het
Flt3 T C 5: 147,294,811 (GRCm39) Y420C possibly damaging Het
Frem2 T A 3: 53,433,249 (GRCm39) T2692S probably damaging Het
Gna12 T A 5: 140,771,200 (GRCm39) R157S probably benign Het
Gsdmc A T 15: 63,651,883 (GRCm39) S243T probably benign Het
Hectd1 A G 12: 51,819,320 (GRCm39) probably benign Het
Hoxd11 G A 2: 74,513,013 (GRCm39) G93R unknown Het
Hydin A G 8: 111,259,515 (GRCm39) I2496V probably benign Het
Igsf10 A G 3: 59,226,308 (GRCm39) I2455T probably benign Het
Ilvbl A T 10: 78,419,196 (GRCm39) R482* probably null Het
Itpr1 A G 6: 108,500,327 (GRCm39) Y2640C probably damaging Het
Kif20a C G 18: 34,761,584 (GRCm39) Q326E probably benign Het
Lamp1 A T 8: 13,224,448 (GRCm39) M371L possibly damaging Het
Lcn6 A G 2: 25,567,166 (GRCm39) N56D probably benign Het
Map3k10 A G 7: 27,362,784 (GRCm39) V434A probably benign Het
Mdga1 T C 17: 30,065,615 (GRCm39) N331S probably damaging Het
Mndal C A 1: 173,700,558 (GRCm39) E138* probably null Het
Morc3 T C 16: 93,667,908 (GRCm39) V762A probably benign Het
Ngef A T 1: 87,417,459 (GRCm39) F279Y probably damaging Het
Or10ac1 A G 6: 42,515,629 (GRCm39) V109A probably damaging Het
Or5m13b A T 2: 85,754,200 (GRCm39) K196I possibly damaging Het
Padi4 GGAGCTCCTGA GGA 4: 140,485,230 (GRCm39) probably null Het
Pcdhb4 G A 18: 37,441,832 (GRCm39) V381M probably benign Het
Ppm1d T C 11: 85,227,986 (GRCm39) Y301H possibly damaging Het
Rasgrf1 A G 9: 89,877,055 (GRCm39) T807A probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sipa1l2 T C 8: 126,208,855 (GRCm39) K518E probably damaging Het
Skic3 A G 13: 76,328,274 (GRCm39) S1441G probably damaging Het
Slc52a3 A G 2: 151,846,396 (GRCm39) D119G probably damaging Het
Srsf4 C T 4: 131,628,042 (GRCm39) H379Y unknown Het
Ssr1 G T 13: 38,167,425 (GRCm39) S246* probably null Het
Tars2 C T 3: 95,653,374 (GRCm39) E509K possibly damaging Het
Tepsin G T 11: 119,988,354 (GRCm39) Y34* probably null Het
Tmtc2 A G 10: 105,205,831 (GRCm39) I488T probably damaging Het
Trgc2 A T 13: 19,491,514 (GRCm39) M69K Het
Ttn A G 2: 76,575,120 (GRCm39) W25258R probably damaging Het
Utp14b T C 1: 78,644,244 (GRCm39) M714T probably benign Het
Vwa3b T A 1: 37,115,461 (GRCm39) H308Q probably benign Het
Washc2 A G 6: 116,206,220 (GRCm39) D480G probably benign Het
Xcl1 C T 1: 164,763,008 (GRCm39) V18I unknown Het
Zcchc2 C A 1: 105,958,494 (GRCm39) N988K 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGCCTCTGACTCCACTCTA -3'
(R):5'- AGAGGCACCTGGGTTACC -3'

Sequencing Primer
(F):5'- CTCTATCCCAAAAAGACTTGATGAGG -3'
(R):5'- GGGTTACCCATTAACTCAGCCATG -3'
Posted On 2021-04-30