|Institutional Source||Beutler Lab|
|Gene Name||sterol O-acyltransferase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.104)|
|Stock #||R6481 (G1)|
|Chromosomal Location||102150526-102163469 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 102162055 bp|
|Amino Acid Change||Leucine to Glutamine at position 431 (L431Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023806 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023806]|
|Predicted Effect||probably damaging
AA Change: L431Q
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L431Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.234|
|Coding Region Coverage||
|Validation Efficiency||100% (82/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit elevated serum triglyceride levels and are resistant to fatty liver, hyperlipidemia, and gallstone development when fed a high fat, high cholesterol diet. When fed a Western diet homozygous mutant animals exhibit elevated HDL levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Soat2||
(F):5'- TTAGTATGGGCTGCCACAC -3'
(R):5'- GTCAGAAACCTTTCCCCACG -3'
(F):5'- ATGGGCTGCCACACCCTTC -3'
(R):5'- ACGTCCCTCAGGATATGGATG -3'