|Institutional Source||Beutler Lab|
|Gene Name||solute carrier organic anion transporter family, member 1b2|
|Synonyms||7330442B20Rik, Slc21a6, mlst-1, Oatp1b2, Slc21a10|
Genbank: NM_020495; MGI:
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4861 (G1)|
|Chromosomal Location||141629518-141686646 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 141671222 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 427 (N427I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044326 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]|
|Predicted Effect||possibly damaging
AA Change: N427I
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: N427I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slco1b2||
(F):5'- TGTAAAGACAGCAGAGAAGTCTTTC -3'
(R):5'- TGCTCTTGGGAGATCTTAAACAG -3'
(F):5'- CCACTATGGCAAGTGGAA -3'
(R):5'- CTTGGGAGATCTTAAACAGTGATTG -3'