|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 22 (organic cation transporter), member 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7524 (G1)|
|Chromosomal Location||12584189-12628465 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 12606057 bp|
|Amino Acid Change||Valine to Leucine at position 269 (V269L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041186 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046959]|
|Predicted Effect||possibly damaging
AA Change: V269L
PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: V269L
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and display no obvious phenotypic abnormalities. No significant defects in the renal secretion of a model organic cation are observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc22a2||
(F):5'- CTCATCCTGCTGACCACATG -3'
(R):5'- AGGTCACAAAAGTCTTAGGCC -3'
(F):5'- ATCCTGCTGACCACATGAATTC -3'
(R):5'- TGGATTTCCAGCAGGGGAC -3'