Incidental Mutation 'IGL01348:Npc1l1'
ID 75138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npc1l1
Ensembl Gene ENSMUSG00000020447
Gene Name NPC1 like intracellular cholesterol transporter 1
Synonyms Niemann-Pick disease, type C1, 9130221N23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL01348
Quality Score
Status
Chromosome 11
Chromosomal Location 6161013-6180143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6177974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 479 (N479D)
Ref Sequence ENSEMBL: ENSMUSP00000004505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004505]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000004505
AA Change: N479D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004505
Gene: ENSMUSG00000020447
AA Change: N479D

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:NPC1_N 28 283 8.7e-74 PFAM
low complexity region 294 307 N/A INTRINSIC
transmembrane domain 348 370 N/A INTRINSIC
Pfam:Patched 385 897 4.7e-52 PFAM
Pfam:Sterol-sensing 661 815 5.7e-55 PFAM
Pfam:MMPL 665 830 2.3e-11 PFAM
Pfam:Patched 1063 1268 6.2e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,213 (GRCm39) E140G probably null Het
Adgrl3 A G 5: 81,874,570 (GRCm39) T956A probably damaging Het
Aff4 G A 11: 53,293,327 (GRCm39) S772N probably benign Het
Ark2n A G 18: 77,761,613 (GRCm39) I233T possibly damaging Het
Atad5 A G 11: 79,986,390 (GRCm39) I492M probably benign Het
Atf4 T C 15: 80,140,728 (GRCm39) probably benign Het
Atrip A G 9: 108,898,363 (GRCm39) S219P probably damaging Het
Axl G A 7: 25,462,734 (GRCm39) R656W probably damaging Het
B3gnt3 T A 8: 72,145,648 (GRCm39) Q240L possibly damaging Het
Baz2b A G 2: 59,764,031 (GRCm39) V915A possibly damaging Het
Cacna1s T C 1: 136,002,890 (GRCm39) V329A possibly damaging Het
Celf3 C A 3: 94,395,535 (GRCm39) Q388K possibly damaging Het
Ciita T C 16: 10,328,591 (GRCm39) S292P probably damaging Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Clec18a G A 8: 111,798,245 (GRCm39) A423V probably damaging Het
Clnk T C 5: 38,870,550 (GRCm39) D336G probably damaging Het
Csmd1 T G 8: 15,960,596 (GRCm39) H3273P probably damaging Het
Cyp3a11 A T 5: 145,805,817 (GRCm39) V157E possibly damaging Het
Dcp1b T C 6: 119,160,679 (GRCm39) I87T probably damaging Het
Ell3 A G 2: 121,272,277 (GRCm39) S66P probably damaging Het
Ercc4 T C 16: 12,950,798 (GRCm39) F631L probably damaging Het
Etl4 T A 2: 20,811,784 (GRCm39) V1289D probably damaging Het
Gm16372 T C 12: 24,543,606 (GRCm39) probably benign Het
Gm4553 C T 7: 141,718,909 (GRCm39) C173Y unknown Het
Gvin-ps5 T A 7: 105,929,042 (GRCm39) H285L unknown Het
Gykl1 A T 18: 52,827,808 (GRCm39) I339F possibly damaging Het
H60b A C 10: 22,162,078 (GRCm39) N101T possibly damaging Het
Inpp4a C T 1: 37,427,986 (GRCm39) T407I probably damaging Het
Itga11 A G 9: 62,651,861 (GRCm39) N331S possibly damaging Het
Kbtbd6 T A 14: 79,690,783 (GRCm39) C430S probably damaging Het
Mfsd4a T C 1: 131,995,564 (GRCm39) S1G probably null Het
Mybpc2 C A 7: 44,165,352 (GRCm39) M372I probably benign Het
Myh10 A T 11: 68,702,629 (GRCm39) T1768S probably benign Het
Myh8 A G 11: 67,188,606 (GRCm39) K1063E probably damaging Het
Nat8f5 A T 6: 85,794,862 (GRCm39) F33I probably damaging Het
Nbeal2 T G 9: 110,458,214 (GRCm39) N2119T probably damaging Het
Nek11 C T 9: 105,270,112 (GRCm39) G37S probably damaging Het
Nup160 A G 2: 90,530,772 (GRCm39) T477A probably benign Het
Or10al5 A T 17: 38,063,177 (GRCm39) H144L probably benign Het
Or5h18 T A 16: 58,848,157 (GRCm39) T38S probably damaging Het
Pcgf2 A G 11: 97,581,066 (GRCm39) V259A probably benign Het
Pmm1 A G 15: 81,836,219 (GRCm39) V131A probably damaging Het
Polr3a A T 14: 24,511,831 (GRCm39) D908E probably damaging Het
Psg29 A C 7: 16,944,598 (GRCm39) R369S probably benign Het
Ptprq T A 10: 107,547,765 (GRCm39) D211V probably damaging Het
Rdh9 A G 10: 127,612,661 (GRCm39) N103S probably benign Het
Riok3 T C 18: 12,286,020 (GRCm39) probably benign Het
Serpinb1b A T 13: 33,275,398 (GRCm39) Q174H probably benign Het
Sgip1 G T 4: 102,772,353 (GRCm39) probably null Het
Sgpp1 A T 12: 75,781,767 (GRCm39) Y191N probably damaging Het
Slc12a1 A G 2: 125,036,051 (GRCm39) N641S probably damaging Het
Slc5a4b T C 10: 75,906,422 (GRCm39) N399S probably damaging Het
Snx16 C T 3: 10,484,219 (GRCm39) A335T probably damaging Het
Sos2 C T 12: 69,664,866 (GRCm39) R355H probably damaging Het
Szt2 A G 4: 118,250,821 (GRCm39) probably benign Het
Tbcd T A 11: 121,387,902 (GRCm39) D344E probably benign Het
Tek C A 4: 94,747,895 (GRCm39) Q988K probably damaging Het
Tgm6 A G 2: 129,979,299 (GRCm39) D143G probably damaging Het
Tpx2 A G 2: 152,735,511 (GRCm39) K713R probably damaging Het
Trappc9 T A 15: 72,808,858 (GRCm39) E556V possibly damaging Het
Trpm6 A T 19: 18,855,015 (GRCm39) K1891N probably damaging Het
Trpv1 G A 11: 73,129,078 (GRCm39) probably null Het
Usp37 T C 1: 74,500,861 (GRCm39) S567G probably damaging Het
Zfp773 A T 7: 7,138,314 (GRCm39) V107D possibly damaging Het
Other mutations in Npc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Npc1l1 APN 11 6,174,199 (GRCm39) missense probably damaging 1.00
IGL01891:Npc1l1 APN 11 6,164,280 (GRCm39) missense probably damaging 1.00
IGL01897:Npc1l1 APN 11 6,177,879 (GRCm39) missense probably benign
IGL02098:Npc1l1 APN 11 6,164,581 (GRCm39) missense probably damaging 0.99
IGL02121:Npc1l1 APN 11 6,178,157 (GRCm39) missense probably benign
IGL02724:Npc1l1 APN 11 6,164,684 (GRCm39) missense possibly damaging 0.88
IGL02947:Npc1l1 APN 11 6,179,246 (GRCm39) missense probably benign 0.01
IGL03328:Npc1l1 APN 11 6,168,643 (GRCm39) nonsense probably null
R0137:Npc1l1 UTSW 11 6,178,148 (GRCm39) nonsense probably null
R0322:Npc1l1 UTSW 11 6,179,042 (GRCm39) missense probably benign
R0352:Npc1l1 UTSW 11 6,173,076 (GRCm39) missense probably benign 0.00
R0492:Npc1l1 UTSW 11 6,173,040 (GRCm39) missense possibly damaging 0.82
R0918:Npc1l1 UTSW 11 6,168,239 (GRCm39) missense probably damaging 1.00
R1300:Npc1l1 UTSW 11 6,177,859 (GRCm39) missense probably damaging 1.00
R1455:Npc1l1 UTSW 11 6,178,174 (GRCm39) missense possibly damaging 0.66
R1588:Npc1l1 UTSW 11 6,167,785 (GRCm39) missense probably benign 0.01
R1803:Npc1l1 UTSW 11 6,178,846 (GRCm39) missense probably damaging 1.00
R1882:Npc1l1 UTSW 11 6,167,473 (GRCm39) splice site probably null
R1944:Npc1l1 UTSW 11 6,164,588 (GRCm39) missense possibly damaging 0.67
R1945:Npc1l1 UTSW 11 6,175,199 (GRCm39) nonsense probably null
R1945:Npc1l1 UTSW 11 6,164,588 (GRCm39) missense possibly damaging 0.67
R3155:Npc1l1 UTSW 11 6,171,840 (GRCm39) missense probably benign
R4343:Npc1l1 UTSW 11 6,167,773 (GRCm39) missense probably benign
R4504:Npc1l1 UTSW 11 6,178,741 (GRCm39) missense possibly damaging 0.61
R4610:Npc1l1 UTSW 11 6,178,215 (GRCm39) missense probably damaging 1.00
R4807:Npc1l1 UTSW 11 6,168,723 (GRCm39) missense probably damaging 1.00
R4829:Npc1l1 UTSW 11 6,164,010 (GRCm39) critical splice donor site probably null
R5135:Npc1l1 UTSW 11 6,174,245 (GRCm39) missense possibly damaging 0.94
R5290:Npc1l1 UTSW 11 6,172,221 (GRCm39) missense probably benign 0.00
R5369:Npc1l1 UTSW 11 6,167,705 (GRCm39) critical splice donor site probably null
R5388:Npc1l1 UTSW 11 6,164,733 (GRCm39) missense probably damaging 1.00
R5532:Npc1l1 UTSW 11 6,174,245 (GRCm39) missense probably damaging 0.98
R5540:Npc1l1 UTSW 11 6,164,546 (GRCm39) missense probably damaging 1.00
R5754:Npc1l1 UTSW 11 6,177,839 (GRCm39) missense probably damaging 1.00
R5760:Npc1l1 UTSW 11 6,179,031 (GRCm39) missense probably benign 0.02
R6057:Npc1l1 UTSW 11 6,167,806 (GRCm39) missense possibly damaging 0.66
R6388:Npc1l1 UTSW 11 6,174,145 (GRCm39) missense probably damaging 1.00
R6644:Npc1l1 UTSW 11 6,164,014 (GRCm39) missense probably damaging 0.98
R6644:Npc1l1 UTSW 11 6,164,013 (GRCm39) missense probably damaging 1.00
R6756:Npc1l1 UTSW 11 6,165,153 (GRCm39) missense probably damaging 1.00
R6790:Npc1l1 UTSW 11 6,164,260 (GRCm39) splice site probably null
R7006:Npc1l1 UTSW 11 6,167,731 (GRCm39) missense probably benign
R7062:Npc1l1 UTSW 11 6,167,807 (GRCm39) missense probably benign
R7273:Npc1l1 UTSW 11 6,168,320 (GRCm39) missense probably damaging 1.00
R7383:Npc1l1 UTSW 11 6,167,777 (GRCm39) missense probably benign 0.30
R8003:Npc1l1 UTSW 11 6,165,129 (GRCm39) missense probably benign 0.01
R8081:Npc1l1 UTSW 11 6,167,768 (GRCm39) missense probably benign 0.01
R8272:Npc1l1 UTSW 11 6,179,327 (GRCm39) nonsense probably null
R8549:Npc1l1 UTSW 11 6,168,675 (GRCm39) missense probably damaging 1.00
R8849:Npc1l1 UTSW 11 6,179,038 (GRCm39) missense probably damaging 0.97
R8887:Npc1l1 UTSW 11 6,175,665 (GRCm39) missense probably damaging 1.00
R8907:Npc1l1 UTSW 11 6,178,157 (GRCm39) missense probably benign 0.28
R9102:Npc1l1 UTSW 11 6,164,684 (GRCm39) missense possibly damaging 0.88
R9289:Npc1l1 UTSW 11 6,168,355 (GRCm39) nonsense probably null
R9626:Npc1l1 UTSW 11 6,177,854 (GRCm39) missense probably benign 0.05
R9785:Npc1l1 UTSW 11 6,180,090 (GRCm39) missense unknown
X0022:Npc1l1 UTSW 11 6,178,058 (GRCm39) missense probably damaging 1.00
Z1177:Npc1l1 UTSW 11 6,175,209 (GRCm39) missense possibly damaging 0.92
Z1177:Npc1l1 UTSW 11 6,168,681 (GRCm39) missense probably damaging 0.99
Z1177:Npc1l1 UTSW 11 6,164,343 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07