Incidental Mutation 'R1251:Npc2'
ID 151771
Institutional Source Beutler Lab
Gene Symbol Npc2
Ensembl Gene ENSMUSG00000021242
Gene Name NPC intracellular cholesterol transporter 2
Synonyms HE1, 2700012J19Rik
MMRRC Submission 039318-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R1251 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84754562-84773152 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84760884 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 67 (S67P)
Ref Sequence ENSEMBL: ENSMUSP00000021668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021668]
AlphaFold Q9Z0J0
Predicted Effect probably damaging
Transcript: ENSMUST00000021668
AA Change: S67P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021668
Gene: ENSMUSG00000021242
AA Change: S67P

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 123,962,052 G495D probably damaging Het
Acap2 A T 16: 31,108,171 Y509N probably damaging Het
Adcy9 T A 16: 4,311,531 E497V probably damaging Het
Bcat2 T G 7: 45,575,986 L56R probably damaging Het
Ccdc146 T C 5: 21,293,372 M952V probably benign Het
Ccdc39 T C 3: 33,826,480 K446R probably damaging Het
Cfap46 C T 7: 139,601,265 V2607I probably benign Het
Clec18a T C 8: 111,081,638 I54V possibly damaging Het
Coil A G 11: 88,982,299 E455G possibly damaging Het
Copg1 A T 6: 87,890,007 K75* probably null Het
Cyp2j12 G A 4: 96,115,666 Q238* probably null Het
D17Wsu92e C T 17: 27,786,070 probably null Het
Eif3i T C 4: 129,593,385 E229G probably damaging Het
Exoc2 T A 13: 30,886,276 N411Y probably benign Het
Eya2 T A 2: 165,754,484 M305K probably damaging Het
Faim C T 9: 98,992,634 T78M probably damaging Het
Fgg T A 3: 83,012,980 D355E probably benign Het
Foxn1 A G 11: 78,358,785 L638P probably damaging Het
Grid2ip A T 5: 143,386,015 E664D possibly damaging Het
Il1rn A G 2: 24,345,570 R21G probably damaging Het
Inpp4b G A 8: 81,890,753 G220R probably benign Het
Irx6 A G 8: 92,678,253 S250G possibly damaging Het
Lyst T C 13: 13,634,483 I246T probably benign Het
Mcm3 G A 1: 20,812,672 Q353* probably null Het
Mfhas1 A G 8: 35,591,053 Y894C probably damaging Het
Mfsd13a T C 19: 46,372,053 L348P probably damaging Het
Necab1 A G 4: 15,111,192 probably null Het
Nectin3 A T 16: 46,463,842 S160T possibly damaging Het
Olfr1036 G A 2: 86,074,820 V27M probably benign Het
Olfr513 T G 7: 108,754,907 F17C probably damaging Het
Pcnx3 A G 19: 5,677,182 F1108L probably benign Het
Phf21a G A 2: 92,359,199 S601N probably benign Het
Pold1 C T 7: 44,535,051 V842I probably benign Het
Rabgap1 A G 2: 37,543,234 probably null Het
Setd1a T A 7: 127,797,424 probably benign Het
Sgo2a A T 1: 57,999,962 probably null Het
Sult2a8 T A 7: 14,425,425 K90* probably null Het
Tlr2 T C 3: 83,838,269 D169G possibly damaging Het
Tmem95 A G 11: 69,876,829 F153S probably benign Het
Tube1 G T 10: 39,134,208 G10* probably null Het
Vmn2r10 T C 5: 108,996,024 M687V probably benign Het
Zc3h8 G A 2: 128,935,369 P117S probably benign Het
Zeb1 T A 18: 5,705,089 D18E probably damaging Het
Other mutations in Npc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Npc2 APN 12 84772845 missense possibly damaging 0.83
R1054:Npc2 UTSW 12 84760718 critical splice donor site probably null
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
R8116:Npc2 UTSW 12 84760838 missense probably benign 0.12
R8416:Npc2 UTSW 12 84765357 missense probably damaging 0.96
R8531:Npc2 UTSW 12 84760838 missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-29