|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 10, member 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0560 (G1)|
|Chromosomal Location||5083219-5105351 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 5089092 bp|
|Amino Acid Change||Asparagine to Serine at position 284 (N284S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023835 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023835]|
|Predicted Effect||probably benign
AA Change: N284S
PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: N284S
|Meta Mutation Damage Score||0.0649|
|Coding Region Coverage||
|Validation Efficiency||100% (26/26)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially indistinguishable from wild-type in terms of survival, gross appearance and behavior. However, they do have defects in lipid absorption from the intestine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc10a2||
(F):5'- CCCAGGTTCCTTGGAAGCATTGAAA -3'
(R):5'- aggggaaggaagaGCAAACAGGTA -3'
(F):5'- CCTCACAGGTTAGTAAGTCTGACTAC -3'
(R):5'- agggaaagaggaaggaaagaaag -3'