|Institutional Source||Beutler Lab|
|Gene Name||aquaporin 3|
|Synonyms||RP23-28I8.7, AQP-2, OTTMUSP00000006982, GIL, Gill blood group|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5013 (G1)|
|Chromosomal Location||41092722-41098183 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 41093819 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 225 (F225L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055110 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055327]|
|Predicted Effect||probably damaging
AA Change: F225L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: F225L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2588|
|Coding Region Coverage||
|Validation Efficiency||100% (86/86)|
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||
|Other mutations in Aqp3||
(F):5'- GTGGCAACCAATCATGAGCTG -3'
(R):5'- CTCTCCCAGTTCATAGGCAC -3'
(F):5'- CCAATCATGAGCTGGTACACG -3'
(R):5'- ACAGCCGCCCTTATTGTGTG -3'