Incidental Mutation 'R8116:Npc2'
ID 631223
Institutional Source Beutler Lab
Gene Symbol Npc2
Ensembl Gene ENSMUSG00000021242
Gene Name NPC intracellular cholesterol transporter 2
Synonyms HE1, 2700012J19Rik
MMRRC Submission 067545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8116 (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 T at 84807612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 82 (R82Q)
Ref Sequence ENSEMBL: ENSMUSP00000021668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021668]
AlphaFold Q9Z0J0
Predicted Effect probably benign
Transcript: ENSMUST00000021668
AA Change: R82Q

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021668
Gene: ENSMUSG00000021242
AA Change: R82Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
ML 24 145 2.24e-38 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,982,420 (GRCm39) N7K probably benign Het
Akap9 T A 5: 4,111,183 (GRCm39) D3081E probably benign Het
Amer2 G A 14: 60,616,854 (GRCm39) A350T probably damaging Het
Amotl1 A G 9: 14,466,868 (GRCm39) probably null Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
Aox1 T C 1: 58,115,283 (GRCm39) V756A probably damaging Het
Arap2 A C 5: 62,887,954 (GRCm39) I464S probably benign Het
Atp8a2 A C 14: 60,263,657 (GRCm39) M359R probably damaging Het
Aunip T C 4: 134,250,618 (GRCm39) S188P possibly damaging Het
Cdt1 A G 8: 123,298,728 (GRCm39) E455G probably benign Het
Cyp2r1 G T 7: 114,149,590 (GRCm39) H475N probably benign Het
Dnah7a G T 1: 53,543,049 (GRCm39) H2374N probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Dst G A 1: 34,313,261 (GRCm39) A4343T probably benign Het
Efcab3 A G 11: 105,002,677 (GRCm39) D304G possibly damaging Het
Efcc1 T C 6: 87,728,772 (GRCm39) L409P probably damaging Het
Eno1 G T 4: 150,325,526 (GRCm39) S37I probably damaging Het
Ermp1 A T 19: 29,601,196 (GRCm39) L517Q probably damaging Het
Farp1 T G 14: 121,471,232 (GRCm39) I196S probably damaging Het
Fbxo21 A G 5: 118,128,919 (GRCm39) T310A possibly damaging Het
Fbxo31 C T 8: 122,287,127 (GRCm39) V149M probably damaging Het
Ggcx C A 6: 72,406,511 (GRCm39) T658N possibly damaging Het
Gpc5 A C 14: 115,636,637 (GRCm39) H440P probably damaging Het
H13 C T 2: 152,537,446 (GRCm39) A297V probably damaging Het
H2-DMb1 T A 17: 34,374,443 (GRCm39) L31Q probably damaging Het
Ifi207 G A 1: 173,557,746 (GRCm39) P331S unknown Het
Il11ra1 G T 4: 41,766,251 (GRCm39) A263S probably benign Het
Il1a C A 2: 129,144,864 (GRCm39) V185F probably damaging Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Kdm4d T A 9: 14,375,237 (GRCm39) K207M probably damaging Het
Lrrc37 A T 11: 103,434,115 (GRCm39) M3018K unknown Het
Lrrc4b T C 7: 44,110,533 (GRCm39) L135P probably damaging Het
Lrrk1 A G 7: 65,912,371 (GRCm39) Y1730H possibly damaging Het
Mcpt2 C A 14: 56,279,663 (GRCm39) A18D probably damaging Het
Mtmr4 C T 11: 87,502,756 (GRCm39) R937* probably null Het
Muc16 T A 9: 18,570,033 (GRCm39) T829S unknown Het
Myof A C 19: 37,921,167 (GRCm39) I1365S probably damaging Het
Or10ag2 T A 2: 87,249,081 (GRCm39) S228T probably damaging Het
Or10d1c A T 9: 38,894,169 (GRCm39) M57K probably damaging Het
Or10j2 T A 1: 173,098,047 (GRCm39) F102I possibly damaging Het
Or2g25 G A 17: 37,970,631 (GRCm39) L198F probably damaging Het
Or4k45 T C 2: 111,395,783 (GRCm39) D2G probably benign Het
Or8b3b A T 9: 38,584,464 (GRCm39) I92N possibly damaging Het
Or8d2b T A 9: 38,789,026 (GRCm39) S185T probably damaging Het
Pdzph1 T C 17: 59,282,138 (GRCm39) N48S probably benign Het
Plce1 A T 19: 38,513,262 (GRCm39) H187L probably benign Het
Pramel6 G T 2: 87,338,808 (GRCm39) V3F probably benign Het
Prr5l CCTCGCTCGCTCGCTCGC CCTCGCTCGCTCGC 2: 101,627,919 (GRCm39) probably null Het
Pwwp3a G A 10: 80,076,231 (GRCm39) G474S probably damaging Het
Rabgap1l A G 1: 160,530,012 (GRCm39) Y358H probably benign Het
Rbbp8 T C 18: 11,855,727 (GRCm39) S625P probably damaging Het
Rhot1 A T 11: 80,141,879 (GRCm39) K461I probably benign Het
Rpa1 G A 11: 75,193,501 (GRCm39) T610I possibly damaging Het
Ryr1 G T 7: 28,810,308 (GRCm39) H316N probably benign Het
Shprh T C 10: 11,089,205 (GRCm39) S1648P probably damaging Het
Sipa1 A T 19: 5,702,140 (GRCm39) D923E possibly damaging Het
Spata6 A G 4: 111,685,517 (GRCm39) Y474C possibly damaging Het
Sptbn1 A T 11: 30,089,117 (GRCm39) I715N probably damaging Het
Stab1 A T 14: 30,880,910 (GRCm39) D627E possibly damaging Het
Stard9 T A 2: 120,495,420 (GRCm39) C98* probably null Het
Tfpi2 T C 6: 3,963,872 (GRCm39) T187A probably damaging Het
Tmem63a G T 1: 180,788,048 (GRCm39) K267N probably benign Het
Topaz1 C T 9: 122,604,708 (GRCm39) A1104V probably benign Het
Trmt11 A G 10: 30,442,490 (GRCm39) I231T possibly damaging Het
Utp15 G A 13: 98,387,371 (GRCm39) T401I probably benign Het
Vmn2r13 T C 5: 109,322,926 (GRCm39) K121R probably benign Het
Xab2 C T 8: 3,663,830 (GRCm39) R363H probably damaging Het
Zfand2b T A 1: 75,145,504 (GRCm39) F3L possibly damaging Het
Zfyve28 A T 5: 34,374,944 (GRCm39) S357T 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
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'- AAAATGGCACCCTTGGGTC -3'
(R):5'- GACCACCTGATCTTCTGGAG -3'

Sequencing Primer
(F):5'- ACCAGCTCTTTGCCCCAG -3'
(R):5'- GGAGTCACCATTCCAGCATTTGATG -3'
Posted On 2020-06-30