Incidental Mutation 'IGL02994:Aqp3'
ID 407060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp3
Ensembl Gene ENSMUSG00000028435
Gene Name aquaporin 3
Synonyms RP23-28I8.7, AQP-2, OTTMUSP00000006982, GIL, Gill blood group
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02994
Quality Score
Status
Chromosome 4
Chromosomal Location 41092722-41098183 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41093614 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 267 (C267S)
Ref Sequence ENSEMBL: ENSMUSP00000055110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055327]
AlphaFold Q8R2N1
Predicted Effect probably benign
Transcript: ENSMUST00000055327
AA Change: C267S

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000055110
Gene: ENSMUSG00000028435
AA Change: C267S

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acpp T A 9: 104,309,403 probably benign Het
Ahnak2 A G 12: 112,786,207 V137A probably damaging Het
Alk G T 17: 71,949,820 F681L probably benign Het
Ankrd35 T C 3: 96,682,991 probably benign Het
Arl13b T A 16: 62,812,003 I76F probably damaging Het
Cdc42bpa G T 1: 179,999,437 R85L probably damaging Het
Ctgf T A 10: 24,596,865 N224K probably damaging Het
Dock4 T G 12: 40,779,160 I1015R probably damaging Het
Dst A G 1: 34,229,252 probably benign Het
Egfr T C 11: 16,911,811 Y1197H probably damaging Het
Endod1 A G 9: 14,356,887 V434A possibly damaging Het
Exosc9 A G 3: 36,553,138 probably benign Het
Fgg G T 3: 83,008,474 R74L probably benign Het
Fmo2 A T 1: 162,880,620 D315E probably damaging Het
H2afy T C 13: 56,104,299 probably benign Het
H2-M3 G A 17: 37,270,738 S97N probably benign Het
Ighv14-2 T A 12: 113,994,591 T77S probably benign Het
Klhl9 A T 4: 88,721,197 L269* probably null Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Mkln1 T C 6: 31,490,443 S31P probably damaging Het
Nacad A G 11: 6,599,528 L1221P possibly damaging Het
Nbr1 A T 11: 101,556,227 N13I probably damaging Het
Ndfip1 T C 18: 38,452,416 I161T probably damaging Het
Nsg1 A G 5: 38,155,602 probably benign Het
Rsbn1l G T 5: 20,908,234 T430K probably damaging Het
Serpina6 A G 12: 103,653,951 S180P probably benign Het
Slc4a5 T C 6: 83,272,124 L570P probably damaging Het
Tank A G 2: 61,650,292 probably benign Het
Tpd52 A G 3: 8,947,530 F76L probably benign Het
Ubox5 A C 2: 130,600,317 L150R probably benign Het
Zfp710 T C 7: 80,081,833 S253P probably benign Het
Other mutations in Aqp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Aqp3 APN 4 41093632 missense probably damaging 1.00
phoebus UTSW 4 41095252 missense probably benign 0.05
R0138:Aqp3 UTSW 4 41094843 splice site probably benign
R2097:Aqp3 UTSW 4 41098004 missense possibly damaging 0.95
R2128:Aqp3 UTSW 4 41098061 missense probably benign 0.00
R2129:Aqp3 UTSW 4 41098061 missense probably benign 0.00
R2278:Aqp3 UTSW 4 41093836 missense probably damaging 1.00
R5013:Aqp3 UTSW 4 41093819 missense probably damaging 1.00
R7176:Aqp3 UTSW 4 41095202 missense probably damaging 1.00
R7365:Aqp3 UTSW 4 41098003 missense probably benign 0.14
R7385:Aqp3 UTSW 4 41095178 missense probably damaging 0.97
R9282:Aqp3 UTSW 4 41093640 missense possibly damaging 0.61
Posted On 2016-08-02