|Institutional Source||Beutler Lab|
|Gene Name||aquaporin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.202)|
|Stock #||RF011 (G1)|
|Chromosomal Location||99579055-99584547 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 99583872 bp|
|Amino Acid Change||Serine to Proline at position 216 (S216P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023752 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023752]|
|Predicted Effect||probably damaging
AA Change: S216P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S216P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aqp2||
(F):5'- GCATAAGTCTTGACAATACCAGAGG -3'
(R):5'- AGTGTCTGGTTCCCTGCAAG -3'
(F):5'- GTCTTGACAATACCAGAGGCACAG -3'
(R):5'- AGCTAGCTACCCTGCACTG -3'