Incidental Mutation 'IGL00481:Aqp3'
ID 6689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp3
Ensembl Gene ENSMUSG00000028435
Gene Name aquaporin 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00481
Quality Score
Status
Chromosome 4
Chromosomal Location 41092724-41098183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41093632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 261 (Y261H)
Ref Sequence ENSEMBL: ENSMUSP00000055110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055327]
AlphaFold Q8R2N1
Predicted Effect probably damaging
Transcript: ENSMUST00000055327
AA Change: Y261H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055110
Gene: ENSMUSG00000028435
AA Change: Y261H

DomainStartEndE-ValueType
Pfam:MIP 16 261 5.9e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154722
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,969 (GRCm39) L944P probably damaging Het
Akap13 A G 7: 75,373,643 (GRCm39) S1885G probably damaging Het
Arap2 A T 5: 62,793,305 (GRCm39) N1380K probably damaging Het
Barx2 T C 9: 31,758,141 (GRCm39) I266V unknown Het
BC034090 C T 1: 155,108,267 (GRCm39) R360H probably benign Het
Bmal2 T A 6: 146,711,164 (GRCm39) M56K probably benign Het
Ccnb2 T C 9: 70,326,189 (GRCm39) K52E probably damaging Het
Ccp110 G A 7: 118,329,220 (GRCm39) V868I possibly damaging Het
Cfap300 T C 9: 8,042,432 (GRCm39) Y57C probably damaging Het
Cyld G T 8: 89,433,918 (GRCm39) V236F probably damaging Het
Dst T C 1: 34,208,410 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,728,830 (GRCm39) A637E possibly damaging Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Ezh1 A T 11: 101,090,128 (GRCm39) M539K possibly damaging Het
Fancc A T 13: 63,548,059 (GRCm39) I80N probably damaging Het
Fat1 G A 8: 45,503,977 (GRCm39) S4447N probably benign Het
Fem1al A G 11: 29,774,755 (GRCm39) L234P probably damaging Het
Fhip2a A G 19: 57,369,777 (GRCm39) E440G probably benign Het
Frem3 A G 8: 81,395,439 (GRCm39) Q1822R possibly damaging Het
Iqgap1 C T 7: 80,409,592 (GRCm39) V248I probably benign Het
Itch T C 2: 155,054,943 (GRCm39) I749T probably damaging Het
Kcna10 T A 3: 107,102,830 (GRCm39) M487K probably benign Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Mtmr2 T C 9: 13,697,212 (GRCm39) I84T probably benign Het
Myocd G A 11: 65,077,980 (GRCm39) T477M probably damaging Het
Nfic A T 10: 81,244,054 (GRCm39) V240E possibly damaging Het
Or4d2 A G 11: 87,784,447 (GRCm39) I101T possibly damaging Het
Prkdc A T 16: 15,608,330 (GRCm39) Y3044F probably benign Het
Prkg1 A G 19: 30,549,022 (GRCm39) I636T probably benign Het
Ptpru A G 4: 131,535,546 (GRCm39) V477A probably benign Het
Rab7b T A 1: 131,626,329 (GRCm39) M119K possibly damaging Het
Sec61a1 T C 6: 88,483,922 (GRCm39) probably benign Het
Sectm1b A G 11: 120,946,799 (GRCm39) V32A probably benign Het
Shroom2 A G X: 151,406,219 (GRCm39) S1034P probably benign Het
Sipa1l3 A T 7: 29,085,533 (GRCm39) I688N probably damaging Het
Slc24a1 T C 9: 64,835,301 (GRCm39) Y942C probably damaging Het
Smg1 C T 7: 117,810,017 (GRCm39) R139K possibly damaging Het
Stt3b G A 9: 115,080,915 (GRCm39) T574I probably benign Het
Thoc2 A G X: 40,968,768 (GRCm39) I76T possibly damaging Het
Tpm3 C T 3: 89,995,024 (GRCm39) T180M probably damaging Het
Uqcrfs1 C A 13: 30,724,908 (GRCm39) V211F probably benign Het
Usp47 A G 7: 111,673,990 (GRCm39) S418G probably benign Het
Usp5 T C 6: 124,806,316 (GRCm39) T15A probably benign Het
Vps13c T C 9: 67,768,147 (GRCm39) L122P probably damaging Het
Zfp677 A T 17: 21,617,930 (GRCm39) E329V probably benign Het
Zfyve16 A T 13: 92,653,046 (GRCm39) N846K possibly damaging Het
Zp1 G T 19: 10,896,141 (GRCm39) P195T probably damaging Het
Other mutations in Aqp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7176:Aqp3 UTSW 4 41,095,202 (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
Posted On 2012-04-20