|Institutional Source||Beutler Lab|
|Gene Name||sterol carrier protein 2, liver|
|Synonyms||NSL-TP, nonspecific lipid transfer protein, SCPx, SCP-2, ns-LTP|
|Is this an essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R5401 (G1)|
|Chromosomal Location||108043839-108144998 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 108144779 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000123630 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000130776]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.648|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene exhibit altered lipid levels and both males and females are sensitive to phytol-rich diets. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scp2||
(F):5'- GTCTCTCAGCAAATGGCCTAG -3'
(R):5'- CACCATTTGTGCCATTTTGGTG -3'
(F):5'- AAATGGCCTAGGCTGCTCTCTG -3'
(R):5'- GAATCTCAGCTGAGGAATGTCTCC -3'