|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 #||R0136 (G1)|
|Chromosomal Location||12648874-12675838 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 12662596 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 335 (F335L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024596 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024596]|
|Predicted Effect||probably benign
AA Change: F335L
PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: F335L
|Meta Mutation Damage Score||0.1348|
|Coding Region Coverage||
|Validation Efficiency||89% (56/63)|
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'- TTCTGAAGACTCAGGCGTCAGGAC -3'
(R):5'- AGCCATGCATCGAACGGATCAC -3'
(F):5'- CGTCAGGACTGTGCTGAG -3'
(R):5'- TCGAACGGATCACTCTTGCTAAG -3'