|Institutional Source||Beutler Lab|
|Gene Name||NPC1 like intracellular cholesterol transporter 1|
|Synonyms||9130221N23Rik, Niemann-Pick disease, type C1|
|Is this an essential gene?||Probably non essential (E-score: 0.150)|
|Stock #||R4504 (G1)|
|Chromosomal Location||6211013-6230143 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 6228741 bp|
|Amino Acid Change||Leucine to Serine at position 223 (L223S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004505 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004505]|
|Predicted Effect||possibly damaging
AA Change: L223S
PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: L223S
|Meta Mutation Damage Score||0.1250|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit normal intestinal development, fertility and plasma cholesterol and triglyceride levels; however, intestinal cholesterol absorption was substantially reduced. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Npc1l1||
(F):5'- GATGATGATGAGAGCCAGCC -3'
(R):5'- TATGAGGCCTTTTATCAACGCAG -3'
(F):5'- AGCCTGGCATTCGACCCATG -3'
(R):5'- CAGTTTTGCAGAGAAGGCCTATG -3'