|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 12, member 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7510 (G1)|
|Chromosomal Location||94329201-94366214 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 94365849 bp|
|Amino Acid Change||Cysteine to Phenylalanine at position 966 (C966F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034218 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034218]|
|Predicted Effect||probably damaging
AA Change: C966F
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: C966F
|Coding Region Coverage||
|Validation Efficiency||97% (65/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc12a3||
(F):5'- AGACAGCAGGGAGGTCTTAC -3'
(R):5'- CGCTGATGGATGGGATGATAC -3'
(F):5'- CAGGGAGGTCTTACGGTGAG -3'
(R):5'- AGTAGAACTTGAAGCCTCTTCTCCAG -3'