|Institutional Source||Beutler Lab|
|Gene Name||aquaporin 4|
|Is this an essential gene?||Probably non essential (E-score: 0.155)|
|Stock #||R1981 (G1)|
|Chromosomal Location||15389394-15403684 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 15393551 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 291 (D291G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078088 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079081]|
|Predicted Effect||probably damaging
AA Change: D291G
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: D291G
|Meta Mutation Damage Score||0.1057|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit decreased urine osmolality associated with reduced water permeability in inner medullary collecting ducts, increased survival rates and reduced brain edema after acute water intoxication and ischemic stroke, aswell as significant hearing impairment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aqp4||
(F):5'- GCAAGAAACCCGCAAGTGTC -3'
(R):5'- CCTTCTCCTCAGATATATTGGGTTGG -3'
(F):5'- ACAAATCTGTTTCCTTAATGGGTGGC -3'
(R):5'- CTTAAGGAAGCCTTCAGC -3'