Incidental Mutation 'R1054:Npc2'
ID 94212
Institutional Source Beutler Lab
Gene Symbol Npc2
Ensembl Gene ENSMUSG00000021242
Gene Name NPC intracellular cholesterol transporter 2
Synonyms HE1, 2700012J19Rik
MMRRC Submission 039144-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1054 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84801333-84819886 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 84807492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021668]
AlphaFold Q9Z0J0
Predicted Effect probably null
Transcript: ENSMUST00000021668
SMART Domains Protein: ENSMUSP00000021668
Gene: ENSMUSG00000021242

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
ML 24 145 2.24e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223200
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,635,759 (GRCm39) T159A probably benign Het
Arhgef38 T C 3: 132,822,226 (GRCm39) Y763C probably damaging Het
Arv1 T A 8: 125,458,611 (GRCm39) F245Y probably benign Het
Ccdc175 A G 12: 72,225,318 (GRCm39) I113T possibly damaging Het
Cdc42bpb A T 12: 111,279,787 (GRCm39) M932K probably benign Het
Cdh15 T C 8: 123,591,076 (GRCm39) F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 (GRCm39) D105N probably damaging Het
Cpne4 A G 9: 104,899,600 (GRCm39) T428A probably benign Het
Cramp1 T A 17: 25,202,151 (GRCm39) I444F probably damaging Het
Dhx32 T A 7: 133,327,001 (GRCm39) K360M probably damaging Het
Dna2 T A 10: 62,799,602 (GRCm39) C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 141,635,804 (GRCm39) probably benign Het
Eif3f G A 7: 108,537,024 (GRCm39) probably null Het
Elmod1 T C 9: 53,820,058 (GRCm39) D310G probably benign Het
Fn1 A G 1: 71,625,373 (GRCm39) *2272Q probably null Het
Gnat1 A G 9: 107,554,638 (GRCm39) S76P probably damaging Het
Gtf2f2 T C 14: 76,232,885 (GRCm39) T94A probably benign Het
Hacd4 A T 4: 88,341,264 (GRCm39) W152R probably damaging Het
Kcnh8 A G 17: 53,110,512 (GRCm39) Y241C probably damaging Het
Lepr T C 4: 101,639,793 (GRCm39) I753T probably damaging Het
Med12l C T 3: 59,156,072 (GRCm39) H1162Y probably damaging Het
Med25 C T 7: 44,529,804 (GRCm39) A485T probably benign Het
Mup5 A T 4: 61,750,871 (GRCm39) S145R probably benign Het
Myo1g A G 11: 6,468,987 (GRCm39) V105A probably damaging Het
Or52h1 A G 7: 103,829,498 (GRCm39) I39T probably benign Het
Or6p1 A G 1: 174,258,419 (GRCm39) T142A probably benign Het
Otulinl T C 15: 27,664,635 (GRCm39) R79G probably damaging Het
Pdzd2 A G 15: 12,371,725 (GRCm39) S2557P probably damaging Het
Pop1 T C 15: 34,509,955 (GRCm39) V353A probably benign Het
Pou3f2 A G 4: 22,487,536 (GRCm39) V199A possibly damaging Het
Pramel18 A G 4: 101,766,361 (GRCm39) E15G probably benign Het
Ptprm A T 17: 67,349,313 (GRCm39) N43K probably damaging Het
Qrsl1 C T 10: 43,758,077 (GRCm39) D339N probably damaging Het
Rpl13-ps3 C A 14: 59,131,394 (GRCm39) noncoding transcript Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr16c6 A G 4: 4,069,908 (GRCm39) V144A probably damaging Het
Spata31d1b C A 13: 59,865,332 (GRCm39) H827N probably damaging Het
Spata31e4 T C 13: 50,856,432 (GRCm39) V690A probably benign Het
Taf4b T A 18: 14,954,530 (GRCm39) H535Q probably benign Het
Timmdc1 A G 16: 38,342,790 (GRCm39) V36A probably benign Het
Tmem74b C T 2: 151,548,339 (GRCm39) A22V probably benign Het
Txnrd3 T A 6: 89,627,543 (GRCm39) Y65* probably null Het
Vmn1r200 T A 13: 22,579,624 (GRCm39) S133R probably damaging Het
Vwf G A 6: 125,567,190 (GRCm39) C311Y probably damaging Het
Wipf2 G A 11: 98,787,141 (GRCm39) R390H possibly damaging Het
Zfp282 T A 6: 47,881,533 (GRCm39) S407T probably benign Het
Other mutations in Npc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Npc2 APN 12 84,819,619 (GRCm39) missense possibly damaging 0.83
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
Predicted Primers PCR Primer
(F):5'- AAGTGCTGCTGCTAAGTGGTCCTG -3'
(R):5'- AAACGCATAGCTGCCTTCCACCTG -3'

Sequencing Primer
(F):5'- acttcttggtagagtggacttg -3'
(R):5'- TGCCTTCCACCTGACTCC -3'
Posted On 2014-01-05