Incidental Mutation 'IGL00966:Npc2'
ID 28774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npc2
Ensembl Gene ENSMUSG00000021242
Gene Name NPC intracellular cholesterol transporter 2
Synonyms HE1, 2700012J19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00966
Quality Score
Status
Chromosome 12
Chromosomal Location 84801333-84819886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84819619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 8 (I8N)
Ref Sequence ENSEMBL: ENSMUSP00000021668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021667] [ENSMUST00000021668] [ENSMUST00000222022] [ENSMUST00000222449]
AlphaFold Q9Z0J0
Predicted Effect probably benign
Transcript: ENSMUST00000021667
SMART Domains Protein: ENSMUSP00000021667
Gene: ENSMUSG00000021241

DomainStartEndE-ValueType
Pfam:Fe-S_biosyn 49 148 2.8e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000021668
AA Change: I8N

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021668
Gene: ENSMUSG00000021242
AA Change: I8N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
ML 24 145 2.24e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221056
Predicted Effect probably benign
Transcript: ENSMUST00000222022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222818
Predicted Effect probably benign
Transcript: ENSMUST00000222449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223089
Predicted Effect probably benign
Transcript: ENSMUST00000222982
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a hypomorphic allele exhibit tremors, ataxia, weight loss, changes in lipid homeostasis, NK and T cell physiology, abnormal lysosome morphology, reduced NK cell number, Purkinje cell loss, and premature death. Homozygotes for a gene-trap allele show an identical immune phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Npc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1054:Npc2 UTSW 12 84,807,492 (GRCm39) critical splice donor site probably null
R1251:Npc2 UTSW 12 84,807,658 (GRCm39) missense probably damaging 1.00
R1986:Npc2 UTSW 12 84,807,523 (GRCm39) missense probably benign 0.18
R6208:Npc2 UTSW 12 84,803,919 (GRCm39) missense probably damaging 1.00
R7130:Npc2 UTSW 12 84,812,081 (GRCm39) missense probably damaging 1.00
R8116:Npc2 UTSW 12 84,807,612 (GRCm39) missense probably benign 0.12
R8416:Npc2 UTSW 12 84,812,131 (GRCm39) missense probably damaging 0.96
R8531:Npc2 UTSW 12 84,807,612 (GRCm39) missense probably benign 0.03
R9694:Npc2 UTSW 12 84,807,638 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17