Incidental Mutation 'IGL00966:Npc2'
ID28774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npc2
Ensembl Gene ENSMUSG00000021242
Gene NameNPC intracellular cholesterol transporter 2
SynonymsHE1, 2700012J19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00966
Quality Score
Status
Chromosome12
Chromosomal Location84754562-84773152 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84772845 bp
ZygosityHeterozygous
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]
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: ENSMUST00000222166
Predicted Effect probably benign
Transcript: ENSMUST00000222449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222818
Predicted Effect probably benign
Transcript: ENSMUST00000222982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223089
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
4932431P20Rik C A 7: 29,537,463 noncoding transcript Het
5430419D17Rik T A 7: 131,243,107 Y692* probably null Het
Acad11 A G 9: 104,126,656 E649G probably damaging Het
Adgre1 C A 17: 57,419,335 T402K probably benign Het
Agap3 A G 5: 24,501,002 probably benign Het
Amy1 T C 3: 113,556,040 I494V probably benign Het
Arhgef40 G A 14: 51,991,698 probably null Het
Atp2c2 T C 8: 119,745,590 V461A probably benign Het
Bub1 A G 2: 127,810,663 S595P probably damaging Het
Cmya5 C T 13: 93,097,906 V225I probably benign Het
Cnbd1 T C 4: 18,906,988 probably benign Het
Cux1 A T 5: 136,311,491 probably benign Het
Dsg3 T A 18: 20,523,607 I178N probably benign Het
Dus2 T A 8: 106,025,901 probably null Het
Enpp1 G A 10: 24,654,031 H570Y probably damaging Het
Ephb3 A C 16: 21,217,294 T57P probably benign Het
Fat3 C A 9: 15,999,094 V1871F possibly damaging Het
Fbll1 T C 11: 35,798,047 T130A probably benign Het
Fbxl20 C T 11: 98,110,974 S99N probably damaging Het
Folr2 T C 7: 101,840,386 E182G probably damaging Het
Fras1 A G 5: 96,555,221 D281G probably benign Het
Gm17175 G T 14: 51,573,069 Q34K possibly damaging Het
Gm5592 T A 7: 41,289,095 D600E probably damaging Het
Gtf2e1 T C 16: 37,515,730 E294G probably benign Het
Gtf3c2 A G 5: 31,170,173 probably benign Het
Heg1 T C 16: 33,710,607 L151P probably damaging Het
Hmcn2 T G 2: 31,428,994 V3902G probably damaging Het
Ift140 A G 17: 25,018,802 Y4C probably damaging Het
Ighv1-19 A C 12: 114,708,949 V17G possibly damaging Het
Iqca T A 1: 90,045,657 I770F probably benign Het
Jak3 T A 8: 71,679,012 C115S probably benign Het
Kif18b A T 11: 102,914,675 M252K probably damaging Het
Klhdc7a A T 4: 139,966,925 V237D probably benign Het
Klhl11 C T 11: 100,463,205 V597I possibly damaging Het
Krt72 T A 15: 101,780,961 Y312F probably damaging Het
Lonp2 T A 8: 86,633,972 I191N probably damaging Het
Nr4a1 T C 15: 101,272,788 L413P probably damaging Het
Nup133 T C 8: 123,911,906 N895S probably damaging Het
Olfr869 T C 9: 20,137,235 F40L probably benign Het
Ppef1 A G X: 160,685,294 I94T probably benign Het
Prrt4 G A 6: 29,176,456 T290I probably benign Het
Ptpru A T 4: 131,772,616 V1239E probably damaging Het
Rab8b T G 9: 66,852,992 M117L probably benign Het
S1pr5 T A 9: 21,244,216 I305F possibly damaging Het
Sdr39u1 A G 14: 55,898,006 V160A probably damaging Het
Slc6a21 C T 7: 45,288,244 T653M probably benign Het
Stk39 T A 2: 68,211,958 E544D probably benign Het
Tgfbr3 T C 5: 107,142,501 T313A probably benign Het
Tle6 A T 10: 81,594,458 L287M probably damaging Het
Tmc2 A G 2: 130,264,012 H821R probably benign Het
Tmem230 G T 2: 132,245,977 D26E probably benign Het
Tnfaip3 A G 10: 19,005,137 F394S probably damaging Het
Ttn T A 2: 76,811,377 L13458F probably damaging Het
Vwa5a A T 9: 38,723,379 N161I probably benign Het
Other mutations in Npc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1054:Npc2 UTSW 12 84760718 critical splice donor site probably null
R1251:Npc2 UTSW 12 84760884 missense probably damaging 1.00
R1986:Npc2 UTSW 12 84760749 missense probably benign 0.18
R6208:Npc2 UTSW 12 84757145 missense probably damaging 1.00
R7130:Npc2 UTSW 12 84765307 missense probably damaging 1.00
Posted On2013-04-17