|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 14 (urea transporter), member 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4300 (G1)|
|Chromosomal Location||78146940-78209094 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 78207068 bp|
|Amino Acid Change||Arginine to Cysteine at position 62 (R62C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025434 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025434] [ENSMUST00000163367]|
|Predicted Effect||probably damaging
AA Change: R62C
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R62C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0768|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mice lacking the collecting duct specific isoforms display decreased urea permeability and urine osmolality and increased urine flow. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc14a2||
(F):5'- CTGGACACTCACCTTTCAGC -3'
(R):5'- GTCCCCAAATGTCCCTATCAAG -3'
(F):5'- GACACTCACCTTTCAGCCAGTTC -3'
(R):5'- CAAGTACTTATAATCCCAGCAGATG -3'