Incidental Mutation 'IGL00163:Npc1l1'
ID 1199
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 # IGL00163
Quality Score
Status
Chromosome 11
Chromosomal Location 6161013-6180143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6174199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 702 (V702E)
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: V702E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004505
Gene: ENSMUSG00000020447
AA Change: V702E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,786,310 (GRCm39) Q103* probably null Het
4933406P04Rik C A 10: 20,186,970 (GRCm39) probably benign Het
Adgrg6 T C 10: 14,343,194 (GRCm39) E251G probably damaging Het
Ago2 T C 15: 72,998,302 (GRCm39) H292R probably benign Het
Akr1c6 T C 13: 4,498,977 (GRCm39) probably benign Het
Arhgap24 T A 5: 103,008,265 (GRCm39) M62K possibly damaging Het
Bicd1 A G 6: 149,451,888 (GRCm39) H834R possibly damaging Het
Ccdc77 G T 6: 120,306,045 (GRCm39) probably benign Het
Cdadc1 G T 14: 59,818,818 (GRCm39) H337N probably damaging Het
Cep192 A G 18: 68,013,871 (GRCm39) T2424A possibly damaging Het
Cep78 T C 19: 15,946,504 (GRCm39) T443A probably benign Het
Chrna1 T A 2: 73,400,986 (GRCm39) E181D probably benign Het
Dmxl1 G A 18: 49,984,534 (GRCm39) D177N probably damaging Het
Eif3h T A 15: 51,650,195 (GRCm39) I330F probably damaging Het
Fam184b T C 5: 45,697,091 (GRCm39) E691G probably benign Het
Fastkd1 T A 2: 69,537,893 (GRCm39) S230C probably benign Het
Gipc2 T C 3: 151,843,215 (GRCm39) I141V probably damaging Het
Hsd17b2 A T 8: 118,485,410 (GRCm39) D291V probably damaging Het
Itpr2 G A 6: 146,292,334 (GRCm39) A420V possibly damaging Het
Jag1 C T 2: 136,927,952 (GRCm39) probably null Het
Minar1 A T 9: 89,473,150 (GRCm39) probably benign Het
Mmp1b T A 9: 7,387,946 (GRCm39) Y16F probably benign Het
Muc4 G T 16: 32,754,090 (GRCm38) R1322M probably benign Het
Myo9b T C 8: 71,801,379 (GRCm39) I1179T probably benign Het
Nos1ap A G 1: 170,342,175 (GRCm39) probably benign Het
Or13d1 G A 4: 52,971,058 (GRCm39) V146M possibly damaging Het
Or1j21 A G 2: 36,684,012 (GRCm39) I255V probably benign Het
Or2ag17 T A 7: 106,389,796 (GRCm39) R137S probably benign Het
Or2y10 A C 11: 49,454,747 (GRCm39) probably benign Het
Or4c31 A T 2: 88,291,696 (GRCm39) Y4F probably benign Het
Or4f7 A C 2: 111,644,126 (GRCm39) probably benign Het
Osmr A T 15: 6,873,926 (GRCm39) L157* probably null Het
Pdzph1 T C 17: 59,281,791 (GRCm39) T164A possibly damaging Het
Ptn T C 6: 36,720,424 (GRCm39) K43E probably benign Het
Rbm45 T C 2: 76,209,051 (GRCm39) V340A probably damaging Het
Rnf5 C T 17: 34,821,083 (GRCm39) G83E probably damaging Het
Scin G T 12: 40,126,971 (GRCm39) Q459K probably benign Het
Serpina5 C A 12: 104,071,479 (GRCm39) A362D probably damaging Het
Tex47 T A 5: 7,355,468 (GRCm39) Y216* probably null Het
Tll1 A T 8: 64,469,170 (GRCm39) H984Q probably benign Het
Tmem259 A G 10: 79,815,568 (GRCm39) V81A probably benign Het
Tns3 A T 11: 8,401,066 (GRCm39) S1077R probably benign Het
Trgv3 G A 13: 19,427,381 (GRCm39) S88N probably benign Het
Ttc17 A G 2: 94,153,428 (GRCm39) probably benign Het
Tubgcp2 T C 7: 139,610,935 (GRCm39) T149A possibly damaging Het
Ulk1 G A 5: 110,935,738 (GRCm39) A25V probably damaging Het
Vps13d T C 4: 144,895,110 (GRCm39) E378G probably damaging Het
Vsig10 A G 5: 117,476,479 (GRCm39) N311S probably benign Het
Zfp511 T C 7: 139,617,429 (GRCm39) Y144H possibly damaging Het
Other mutations in Npc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Npc1l1 APN 11 6,177,974 (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 2011-07-12