Incidental Mutation 'R7176:Aqp3'
ID 558608
Institutional Source Beutler Lab
Gene Symbol Aqp3
Ensembl Gene ENSMUSG00000028435
Gene Name aquaporin 3
Synonyms
MMRRC Submission 045267-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7176 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41092724-41098183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41095202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 60 (N60Y)
Ref Sequence ENSEMBL: ENSMUSP00000055110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055327]
AlphaFold Q8R2N1
Predicted Effect probably damaging
Transcript: ENSMUST00000055327
AA Change: N60Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055110
Gene: ENSMUSG00000028435
AA Change: N60Y

DomainStartEndE-ValueType
Pfam:MIP 16 261 5.9e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Animals homozygous for a mutation in this gene display increased drinking behavior, increased urination, and decreased urine osmolality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,203 (GRCm39) H267N probably benign Het
Abtb2 A G 2: 103,539,720 (GRCm39) D695G probably benign Het
Adam21 C T 12: 81,607,022 (GRCm39) D247N possibly damaging Het
Adnp T C 2: 168,024,578 (GRCm39) N906D probably benign Het
Ankrd17 A T 5: 90,416,594 (GRCm39) H1079Q probably damaging Het
Art4 T G 6: 136,834,166 (GRCm39) T26P probably benign Het
Arvcf T C 16: 18,218,477 (GRCm39) L553P probably damaging Het
Asxl1 T A 2: 153,243,908 (GRCm39) I1487N probably damaging Het
Capn3 A T 2: 120,334,973 (GRCm39) Y820F possibly damaging Het
Catip A G 1: 74,401,941 (GRCm39) T39A probably damaging Het
Ccdc168 A T 1: 44,099,506 (GRCm39) S531T probably benign Het
Ccdc18 T A 5: 108,315,972 (GRCm39) C481S probably benign Het
Ccnf A G 17: 24,468,376 (GRCm39) I7T possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdkl4 A T 17: 80,851,221 (GRCm39) Y160* probably null Het
Celsr3 C T 9: 108,722,961 (GRCm39) P2783S probably benign Het
Cisd3 A T 11: 97,576,959 (GRCm39) D11V probably benign Het
Daxx A T 17: 34,132,292 (GRCm39) H512L unknown Het
Dip2b A G 15: 100,067,199 (GRCm39) H567R probably damaging Het
Dnah7c C A 1: 46,469,969 (GRCm39) A18E probably benign Het
Eif3d A T 15: 77,847,434 (GRCm39) V268D probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Fmnl2 A G 2: 53,004,162 (GRCm39) M625V unknown Het
Foxn1 T C 11: 78,251,693 (GRCm39) R513G possibly damaging Het
Gemin5 C T 11: 58,056,828 (GRCm39) V134I probably benign Het
Gtf2h3 A G 5: 124,728,433 (GRCm39) R161G probably damaging Het
Ice1 A G 13: 70,772,525 (GRCm39) probably null Het
Il1rl1 T C 1: 40,485,766 (GRCm39) Y306H probably damaging Het
Kbtbd7 A T 14: 79,665,194 (GRCm39) E342V possibly damaging Het
Kyat3 A T 3: 142,443,600 (GRCm39) K404N possibly damaging Het
Lins1 T C 7: 66,363,553 (GRCm39) W483R probably benign Het
Lipo2 A G 19: 33,723,207 (GRCm39) I194T possibly damaging Het
Mcm8 G T 2: 132,661,992 (GRCm39) A137S probably benign Het
Mdm1 C A 10: 117,978,770 (GRCm39) Q12K probably damaging Het
Mrgprb5 C A 7: 47,818,059 (GRCm39) L225F possibly damaging Het
Myh11 T A 16: 14,033,690 (GRCm39) H1068L Het
Ngef A T 1: 87,408,417 (GRCm39) V550E possibly damaging Het
Nrg1 G A 8: 32,458,064 (GRCm39) Q84* probably null Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Ocln C A 13: 100,651,590 (GRCm39) G327C probably damaging Het
Ocln A C 13: 100,651,591 (GRCm39) N326K probably benign Het
Or10ag55-ps1 C T 2: 87,115,378 (GRCm39) A248V probably damaging Het
Otogl T C 10: 107,614,772 (GRCm39) D1960G probably damaging Het
Pik3c2a T C 7: 115,987,331 (GRCm39) D530G possibly damaging Het
Plod1 A T 4: 147,997,744 (GRCm39) M655K probably benign Het
Ppp4r3b A G 11: 29,148,904 (GRCm39) N449D probably damaging Het
Ppp6r3 G T 19: 3,521,989 (GRCm39) T563K probably damaging Het
Prepl T A 17: 85,376,454 (GRCm39) L533F probably benign Het
Rbl1 G A 2: 157,030,245 (GRCm39) R421W probably damaging Het
Rrp15 G A 1: 186,453,730 (GRCm39) S239L probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 A G 5: 124,530,944 (GRCm39) S815P probably benign Het
Scn7a G A 2: 66,506,632 (GRCm39) T1419I probably damaging Het
Setdb1 A G 3: 95,244,458 (GRCm39) probably null Het
Shpk A G 11: 73,113,814 (GRCm39) H409R probably benign Het
Slamf6 A C 1: 171,761,858 (GRCm39) N93T probably benign Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc35g1 T A 19: 38,391,771 (GRCm39) V351E probably damaging Het
Smcr8 A T 11: 60,669,772 (GRCm39) I307F probably damaging Het
Spats2l T C 1: 57,977,077 (GRCm39) I305T possibly damaging Het
Speer4c1 T C 5: 15,916,536 (GRCm39) T144A probably benign Het
Tbl3 G A 17: 24,919,732 (GRCm39) T774I probably benign Het
Ush2a A G 1: 188,269,925 (GRCm39) H1724R probably benign Het
Vcan A G 13: 89,837,055 (GRCm39) S2830P probably benign Het
Vmn2r27 T A 6: 124,168,995 (GRCm39) I712F probably benign Het
Wdr59 T G 8: 112,219,388 (GRCm39) Q223P Het
Zfp28 T A 7: 6,386,456 (GRCm39) C22S possibly damaging Het
Zfp536 T G 7: 37,180,276 (GRCm39) probably null Het
Other mutations in Aqp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Aqp3 APN 4 41,093,632 (GRCm39) missense probably damaging 1.00
IGL02994:Aqp3 APN 4 41,093,614 (GRCm39) missense probably benign 0.09
phoebus UTSW 4 41,095,252 (GRCm39) missense probably benign 0.05
R0138:Aqp3 UTSW 4 41,094,843 (GRCm39) splice site probably benign
R2097:Aqp3 UTSW 4 41,098,004 (GRCm39) missense possibly damaging 0.95
R2128:Aqp3 UTSW 4 41,098,061 (GRCm39) missense probably benign 0.00
R2129:Aqp3 UTSW 4 41,098,061 (GRCm39) missense probably benign 0.00
R2278:Aqp3 UTSW 4 41,093,836 (GRCm39) missense probably damaging 1.00
R5013:Aqp3 UTSW 4 41,093,819 (GRCm39) missense probably damaging 1.00
R7365:Aqp3 UTSW 4 41,098,003 (GRCm39) missense probably benign 0.14
R7385:Aqp3 UTSW 4 41,095,178 (GRCm39) missense probably damaging 0.97
R9282:Aqp3 UTSW 4 41,093,640 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CCAAAGCTGAGGTGCTGTTAG -3'
(R):5'- CCCAGTCATGTACCCATTACTG -3'

Sequencing Primer
(F):5'- AGGTGCTGTTAGTGTGCGTCC -3'
(R):5'- ATGAGGCTCTGCACGTCTC -3'
Posted On 2019-06-26