Incidental Mutation 'R3004:Npc1'
ID | 257403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npc1
|
Ensembl Gene |
ENSMUSG00000024413 |
Gene Name | NPC intracellular cholesterol transporter 1 |
Synonyms | nmf164, A430089E03Rik, D18Ertd723e, C85354, D18Ertd139e, lcsd |
Accession Numbers | |
Is this an essential gene? |
Possibly essential (E-score: 0.553)
|
Stock # | R3004 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 18 |
Chromosomal Location | 12189693-12236400 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 12197254 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 947
(F947L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025279]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025279
AA Change: F947L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000025279 Gene: ENSMUSG00000024413 AA Change: F947L
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
Pfam:NPC1_N
|
22 |
267 |
1.6e-79 |
PFAM |
transmembrane domain
|
269 |
291 |
N/A |
INTRINSIC |
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
Pfam:Patched
|
436 |
896 |
3.5e-52 |
PFAM |
Pfam:MMPL
|
648 |
794 |
6.3e-8 |
PFAM |
Pfam:Sterol-sensing
|
649 |
803 |
2.7e-56 |
PFAM |
Pfam:Patched
|
1023 |
1252 |
2.9e-33 |
PFAM |
low complexity region
|
1259 |
1273 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153352
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] PHENOTYPE: Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
G |
A |
7: 81,103,355 |
W1553* |
probably null |
Het |
Art2a-ps |
T |
C |
7: 101,554,765 |
I189V |
probably benign |
Het |
BC049715 |
A |
G |
6: 136,839,792 |
E10G |
possibly damaging |
Het |
BC067074 |
T |
C |
13: 113,366,154 |
F131S |
probably damaging |
Het |
Ccdc158 |
A |
G |
5: 92,649,070 |
L469P |
probably damaging |
Het |
Ctsm |
T |
C |
13: 61,539,868 |
I59V |
possibly damaging |
Het |
Daam2 |
A |
G |
17: 49,460,654 |
F970L |
probably damaging |
Het |
Gm21903 |
A |
T |
17: 39,042,656 |
|
probably benign |
Het |
Gpr158 |
T |
A |
2: 21,826,999 |
M970K |
probably damaging |
Het |
Hist1h2bf |
G |
A |
13: 23,574,181 |
|
probably benign |
Het |
Hoxd10 |
T |
A |
2: 74,692,362 |
V128D |
probably benign |
Het |
Ighv5-9 |
T |
C |
12: 113,661,947 |
T59A |
probably benign |
Het |
Nlrp4c |
G |
A |
7: 6,065,525 |
V142M |
probably benign |
Het |
Olfr356 |
T |
A |
2: 36,937,209 |
I30N |
possibly damaging |
Het |
Olfr504 |
G |
T |
7: 108,564,944 |
H284N |
probably benign |
Het |
Piezo2 |
G |
T |
18: 63,024,435 |
Y223* |
probably null |
Het |
Rhog |
A |
T |
7: 102,240,138 |
V36E |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,381,708 |
T1168I |
probably damaging |
Het |
Sin3a |
T |
A |
9: 57,096,834 |
L290* |
probably null |
Het |
Slco1c1 |
G |
T |
6: 141,532,654 |
A48S |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,981,764 |
S715R |
possibly damaging |
Het |
Sox17 |
T |
C |
1: 4,492,617 |
E120G |
probably damaging |
Het |
|
Other mutations in Npc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02347:Npc1
|
APN |
18 |
12199634 |
missense |
probably benign |
0.45 |
IGL02523:Npc1
|
APN |
18 |
12201572 |
missense |
probably benign |
0.00 |
IGL03018:Npc1
|
APN |
18 |
12214379 |
missense |
probably damaging |
0.99 |
IGL03101:Npc1
|
APN |
18 |
12198539 |
missense |
probably benign |
0.15 |
IGL03151:Npc1
|
APN |
18 |
12219275 |
missense |
probably benign |
0.05 |
IGL03377:Npc1
|
APN |
18 |
12211821 |
missense |
probably benign |
|
PIT4354001:Npc1
|
UTSW |
18 |
12211535 |
missense |
probably benign |
0.00 |
R0068:Npc1
|
UTSW |
18 |
12208367 |
missense |
probably benign |
0.04 |
R0068:Npc1
|
UTSW |
18 |
12208367 |
missense |
probably benign |
0.04 |
R0190:Npc1
|
UTSW |
18 |
12191830 |
missense |
probably damaging |
1.00 |
R0200:Npc1
|
UTSW |
18 |
12219204 |
missense |
probably damaging |
1.00 |
R0485:Npc1
|
UTSW |
18 |
12213446 |
missense |
probably benign |
0.00 |
R0699:Npc1
|
UTSW |
18 |
12210575 |
missense |
probably benign |
0.00 |
R0730:Npc1
|
UTSW |
18 |
12219325 |
missense |
probably benign |
0.00 |
R1302:Npc1
|
UTSW |
18 |
12195085 |
missense |
probably benign |
0.00 |
R1442:Npc1
|
UTSW |
18 |
12195049 |
missense |
probably benign |
|
R1463:Npc1
|
UTSW |
18 |
12191830 |
missense |
probably damaging |
1.00 |
R1804:Npc1
|
UTSW |
18 |
12223088 |
missense |
probably damaging |
1.00 |
R1808:Npc1
|
UTSW |
18 |
12194092 |
missense |
probably damaging |
1.00 |
R1928:Npc1
|
UTSW |
18 |
12213378 |
missense |
possibly damaging |
0.79 |
R2112:Npc1
|
UTSW |
18 |
12213472 |
missense |
possibly damaging |
0.49 |
R2117:Npc1
|
UTSW |
18 |
12196556 |
missense |
probably damaging |
1.00 |
R2157:Npc1
|
UTSW |
18 |
12191809 |
missense |
probably damaging |
0.98 |
R2279:Npc1
|
UTSW |
18 |
12197179 |
splice site |
probably null |
|
R2311:Npc1
|
UTSW |
18 |
12202183 |
missense |
probably benign |
|
R2446:Npc1
|
UTSW |
18 |
12214339 |
missense |
probably benign |
0.01 |
R4090:Npc1
|
UTSW |
18 |
12198162 |
splice site |
probably null |
|
R4304:Npc1
|
UTSW |
18 |
12210527 |
missense |
possibly damaging |
0.77 |
R4308:Npc1
|
UTSW |
18 |
12210527 |
missense |
possibly damaging |
0.77 |
R4564:Npc1
|
UTSW |
18 |
12191732 |
missense |
probably damaging |
1.00 |
R4786:Npc1
|
UTSW |
18 |
12199497 |
missense |
probably benign |
0.35 |
R5243:Npc1
|
UTSW |
18 |
12198631 |
intron |
probably benign |
|
R5404:Npc1
|
UTSW |
18 |
12213299 |
missense |
possibly damaging |
0.79 |
R5823:Npc1
|
UTSW |
18 |
12191789 |
missense |
possibly damaging |
0.69 |
R6080:Npc1
|
UTSW |
18 |
12219351 |
missense |
probably damaging |
1.00 |
R6215:Npc1
|
UTSW |
18 |
12236192 |
small deletion |
probably benign |
|
R6301:Npc1
|
UTSW |
18 |
12197245 |
missense |
probably benign |
0.00 |
R6476:Npc1
|
UTSW |
18 |
12201694 |
nonsense |
probably null |
|
R7007:Npc1
|
UTSW |
18 |
12210548 |
missense |
probably benign |
0.02 |
R7020:Npc1
|
UTSW |
18 |
12198537 |
missense |
probably damaging |
1.00 |
R7048:Npc1
|
UTSW |
18 |
12204765 |
splice site |
probably null |
|
R7116:Npc1
|
UTSW |
18 |
12211544 |
missense |
probably damaging |
1.00 |
R7153:Npc1
|
UTSW |
18 |
12213291 |
missense |
possibly damaging |
0.78 |
R7359:Npc1
|
UTSW |
18 |
12195180 |
missense |
probably benign |
0.05 |
R7382:Npc1
|
UTSW |
18 |
12201706 |
missense |
probably damaging |
0.99 |
R7765:Npc1
|
UTSW |
18 |
12195048 |
missense |
probably benign |
0.01 |
R8047:Npc1
|
UTSW |
18 |
12213317 |
missense |
probably benign |
0.00 |
R8094:Npc1
|
UTSW |
18 |
12194240 |
missense |
probably benign |
|
R8161:Npc1
|
UTSW |
18 |
12195072 |
missense |
possibly damaging |
0.77 |
R8310:Npc1
|
UTSW |
18 |
12193398 |
missense |
probably damaging |
0.98 |
X0012:Npc1
|
UTSW |
18 |
12193311 |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACGTGTGTGACTGAGCACAG -3'
(R):5'- AGTTTCCTGTGAGCAAAGTGGG -3'
Sequencing Primer
(F):5'- GAGACGGCTCCAACACTG -3'
(R):5'- GCAAAGTGGGCTCATTGGC -3'
|
Posted On | 2015-01-11 |