Incidental Mutation 'R8531:Npc2'
ID 659063
Institutional Source Beutler Lab
Gene Symbol Npc2
Ensembl Gene ENSMUSG00000021242
Gene Name NPC intracellular cholesterol transporter 2
Synonyms HE1, 2700012J19Rik
MMRRC Submission 068501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8531 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 84801333-84819886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84807612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 82 (R82L)
Ref Sequence ENSEMBL: ENSMUSP00000021668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021668]
AlphaFold Q9Z0J0
Predicted Effect probably benign
Transcript: ENSMUST00000021668
AA Change: R82L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021668
Gene: ENSMUSG00000021242
AA Change: R82L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
ML 24 145 2.24e-38 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,950,622 (GRCm39) R1506S probably benign Het
Acox2 T C 14: 8,247,960 (GRCm38) T441A probably damaging Het
Adam6a A G 12: 113,508,917 (GRCm39) E430G probably damaging Het
Afg3l2 T C 18: 67,540,439 (GRCm39) E690G probably damaging Het
Alb A G 5: 90,611,873 (GRCm39) I101V probably benign Het
Arhgef19 T C 4: 140,976,903 (GRCm39) I493T possibly damaging Het
Btnl2 T C 17: 34,577,028 (GRCm39) M61T probably benign Het
Cyp2d11 A G 15: 82,273,429 (GRCm39) Y481H probably benign Het
Dennd4c T C 4: 86,744,319 (GRCm39) probably null Het
Dhx9 C A 1: 153,334,182 (GRCm39) V993F possibly damaging Het
Dlk1 A G 12: 109,424,066 (GRCm39) Q110R probably null Het
Dmp1 A C 5: 104,360,269 (GRCm39) D315A probably damaging Het
Dnah3 T C 7: 119,550,591 (GRCm39) K3243E probably damaging Het
Dsc3 T C 18: 20,101,449 (GRCm39) N648S probably benign Het
Dsc3 C T 18: 20,114,274 (GRCm39) D327N probably damaging Het
Egr4 T C 6: 85,489,106 (GRCm39) D318G probably damaging Het
Fiz1 A T 7: 5,012,163 (GRCm39) C118* probably null Het
Flad1 A C 3: 89,310,517 (GRCm39) Y479D probably damaging Het
Flnb T C 14: 7,929,939 (GRCm38) F2023S probably damaging Het
Glp1r T C 17: 31,143,531 (GRCm39) L189P probably damaging Het
Grm5 A T 7: 87,779,724 (GRCm39) T1055S probably benign Het
Gucy1a1 A G 3: 82,018,468 (GRCm39) I123T probably benign Het
Ifnar1 T A 16: 91,292,344 (GRCm39) C199* probably null Het
Lepr A T 4: 101,622,612 (GRCm39) Y464F probably damaging Het
Mamdc4 G T 2: 25,457,730 (GRCm39) Q452K possibly damaging Het
Map2k6 A G 11: 110,290,175 (GRCm39) probably benign Het
Mphosph10 T C 7: 64,034,076 (GRCm39) I429V possibly damaging Het
Neb T A 2: 52,181,074 (GRCm39) M1178L possibly damaging Het
Nherf4 T C 9: 44,159,670 (GRCm39) E442G probably damaging Het
Olfm5 A T 7: 103,803,029 (GRCm39) M478K probably benign Het
Or5aq6 G T 2: 86,923,670 (GRCm39) Q24K probably benign Het
Or5k14 A C 16: 58,693,016 (GRCm39) L166V probably damaging Het
Osbpl9 T C 4: 109,013,908 (GRCm39) D62G probably damaging Het
Otog C T 7: 45,901,473 (GRCm39) R391C probably damaging Het
Plppr4 T C 3: 117,115,592 (GRCm39) Y755C probably damaging Het
Pnpla8 T A 12: 44,358,368 (GRCm39) F708I possibly damaging Het
Pom121l12 A T 11: 14,549,932 (GRCm39) T213S probably benign Het
Pramel27 T A 4: 143,579,601 (GRCm39) D395E probably benign Het
Rabep1 T C 11: 70,799,332 (GRCm39) S278P probably benign Het
Rigi A G 4: 40,225,596 (GRCm39) probably null Het
Rnf213 C G 11: 119,365,031 (GRCm39) Q4563E probably benign Het
Rttn C A 18: 89,131,467 (GRCm39) R1949S probably benign Het
Rwdd3 T C 3: 120,952,788 (GRCm39) I140V probably benign Het
Serpinb6a A T 13: 34,115,462 (GRCm39) M53K probably damaging Het
Serpinb9g A T 13: 33,676,896 (GRCm39) D226V possibly damaging Het
Serpind1 A T 16: 17,160,847 (GRCm39) Y459F probably damaging Het
Skor2 T C 18: 76,946,569 (GRCm39) V97A unknown Het
Slc26a4 C T 12: 31,599,911 (GRCm39) probably null Het
Slc4a10 T C 2: 62,097,851 (GRCm39) Y517H probably damaging Het
Sphkap A G 1: 83,254,909 (GRCm39) W947R probably damaging Het
Sult3a2 T C 10: 33,653,239 (GRCm39) D167G probably damaging Het
Supt16 A T 14: 52,410,020 (GRCm39) M729K probably damaging Het
Tmem176b A G 6: 48,811,538 (GRCm39) I37T possibly damaging Het
Tmem259 A G 10: 79,813,819 (GRCm39) V423A probably damaging Het
Tmem62 G T 2: 120,837,533 (GRCm39) L483F probably damaging Het
Tnfrsf13b T C 11: 61,031,777 (GRCm39) probably null Het
Tut7 A T 13: 59,937,074 (GRCm39) I1191K probably damaging Het
Txk C A 5: 72,893,720 (GRCm39) C20F possibly damaging Het
Ube2w A C 1: 16,672,542 (GRCm39) N46K probably benign Het
Unc79 A T 12: 103,013,922 (GRCm39) H300L probably damaging Het
Unc79 T A 12: 103,049,855 (GRCm39) H920Q probably benign Het
Vmn1r16 A G 6: 57,299,900 (GRCm39) Y241H probably damaging Het
Vmn2r100 A T 17: 19,742,459 (GRCm39) I278F possibly damaging Het
Zfp260 T A 7: 29,804,884 (GRCm39) H261Q probably damaging Het
Other mutations in Npc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Npc2 APN 12 84,819,619 (GRCm39) missense possibly damaging 0.83
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
R9694:Npc2 UTSW 12 84,807,638 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAATGGCACCCTTGGGTC -3'
(R):5'- GACCACCTGATCTTCTGGAG -3'

Sequencing Primer
(F):5'- ACCAGCTCTTTGCCCCAG -3'
(R):5'- GGAGTCACCATTCCAGCATTTGATG -3'
Posted On 2021-01-18