Incidental Mutation 'R2278:Aqp3'
ID 242891
Institutional Source Beutler Lab
Gene Symbol Aqp3
Ensembl Gene ENSMUSG00000028435
Gene Name aquaporin 3
Synonyms
MMRRC Submission 040277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41092724-41098183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41093836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 219 (D219G)
Ref Sequence ENSEMBL: ENSMUSP00000055110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055327]
AlphaFold Q8R2N1
Predicted Effect probably damaging
Transcript: ENSMUST00000055327
AA Change: D219G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055110
Gene: ENSMUSG00000028435
AA Change: D219G

DomainStartEndE-ValueType
Pfam:MIP 16 261 5.9e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154722
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Mknk1 C T 4: 115,732,690 (GRCm39) A306V probably damaging Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pfkp T C 13: 6,669,245 (GRCm39) probably null Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Rps27l T A 9: 66,854,208 (GRCm39) D34E probably benign Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc11a2 A G 15: 100,307,962 (GRCm39) probably null Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGGGCCAGCTTCACATTCTC -3'
(R):5'- CTCTCCCAGTTCATAGGCACAG -3'

Sequencing Primer
(F):5'- TGGCAACCAATCATGAGCTG -3'
(R):5'- ACAGCCGCCCTTATTGTGTG -3'
Posted On 2014-10-16