|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 22 (organic cation transporter), member 1|
|Synonyms||Lx1, Oct1, Oct1, Orct1, Orct|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7263 (G1)|
|Chromosomal Location||12648874-12675838 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 12666700 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 200 (Y200N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024596 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024596]|
|Predicted Effect||probably damaging
AA Change: Y200N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y200N
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
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. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc22a1||
(F):5'- CCACAAACATCCATGTCTACATTTG -3'
(R):5'- TTATGCCAGAGGTAGGCGTTC -3'
(F):5'- ACATCCATGTCTACATTTGATTCAC -3'
(R):5'- GTAGGCGTTCCAACTTAGACATG -3'