|Institutional Source||Beutler Lab|
|Gene Name||NPC intracellular cholesterol transporter 1|
|Synonyms||nmf164, A430089E03Rik, D18Ertd723e, C85354, D18Ertd139e, lcsd|
|Is this an essential gene?||Possibly essential (E-score: 0.582)|
|Stock #||R7153 (G1)|
|Chromosomal Location||12189693-12236400 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 12213291 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 283 (F283L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025279 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025279]|
|Predicted Effect||possibly damaging
AA Change: F283L
PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: F283L
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Npc1||
(F):5'- TTACTAGCTGTAGGCACAAGC -3'
(R):5'- AGATCTTTCAATCCTTGGGATGG -3'
(F):5'- GCACAAGCCATCCAGGG -3'
(R):5'- TCAATCCTTGGGATGGAGCCC -3'