|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 12, member 2|
|Synonyms||Nkcc1, sy-ns, mBSC2, sodium/potassium/chloride cotransporters|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4223 (G1)|
|Chromosomal Location||57878678-57946821 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 57910256 bp|
|Amino Acid Change||Serine to Threonine at position 591 (S591T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111023 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115366]|
|Predicted Effect||probably damaging
AA Change: S591T
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S591T
|Meta Mutation Damage Score||0.41|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc12a2||
(F):5'- GCACGCCTTTAAGGATGTTTTAGTAG -3'
(R):5'- CAATGTTTGAACAGTCCTACATAGC -3'
(F):5'- GCTATTACCAGATTCCTTTCAG -3'
(R):5'- CAAACACTTTCAGATAAAGGT -3'