Incidental Mutation 'R9626:Npc1l1'
ID |
725160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npc1l1
|
Ensembl Gene |
ENSMUSG00000020447 |
Gene Name |
NPC1 like intracellular cholesterol transporter 1 |
Synonyms |
Niemann-Pick disease, type C1, 9130221N23Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R9626 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6161013-6180143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6177854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 519
(K519E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004505]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004505
AA Change: K519E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000004505 Gene: ENSMUSG00000020447 AA Change: K519E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:NPC1_N
|
28 |
283 |
8.7e-74 |
PFAM |
low complexity region
|
294 |
307 |
N/A |
INTRINSIC |
transmembrane domain
|
348 |
370 |
N/A |
INTRINSIC |
Pfam:Patched
|
385 |
897 |
4.7e-52 |
PFAM |
Pfam:Sterol-sensing
|
661 |
815 |
5.7e-55 |
PFAM |
Pfam:MMPL
|
665 |
830 |
2.3e-11 |
PFAM |
Pfam:Patched
|
1063 |
1268 |
6.2e-34 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for a targeted null mutation exhibit normal intestinal development, fertility and plasma cholesterol and triglyceride levels; however, intestinal cholesterol absorption was substantially reduced. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,127,502 (GRCm39) |
N37I |
unknown |
Het |
Abca9 |
T |
A |
11: 110,011,606 (GRCm39) |
T1146S |
probably benign |
Het |
Acnat2 |
G |
A |
4: 49,380,179 (GRCm39) |
H400Y |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,275,721 (GRCm39) |
S768P |
probably damaging |
Het |
Arap2 |
T |
A |
5: 62,906,878 (GRCm39) |
H47L |
probably benign |
Het |
Atxn1 |
T |
A |
13: 45,710,796 (GRCm39) |
N712I |
possibly damaging |
Het |
Bri3bp |
T |
A |
5: 125,531,572 (GRCm39) |
S173T |
probably damaging |
Het |
Camta1 |
A |
T |
4: 151,168,287 (GRCm39) |
S254R |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,247,294 (GRCm39) |
E285G |
probably benign |
Het |
Celf2 |
G |
A |
2: 6,590,835 (GRCm39) |
A320V |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,726,521 (GRCm39) |
I3250T |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
Cntrob |
T |
C |
11: 69,202,167 (GRCm39) |
H475R |
possibly damaging |
Het |
Dcaf6 |
G |
A |
1: 165,227,264 (GRCm39) |
R288* |
probably null |
Het |
Ebna1bp2 |
G |
A |
4: 118,478,371 (GRCm39) |
|
probably benign |
Het |
Erich3 |
A |
T |
3: 154,444,730 (GRCm39) |
D302V |
probably benign |
Het |
Fbxo48 |
T |
A |
11: 16,904,333 (GRCm39) |
*162K |
probably null |
Het |
Fyttd1 |
T |
C |
16: 32,725,915 (GRCm39) |
L290S |
probably damaging |
Het |
Gcc1 |
T |
C |
6: 28,418,917 (GRCm39) |
D472G |
probably damaging |
Het |
Gjb4 |
C |
T |
4: 127,246,081 (GRCm39) |
|
probably benign |
Het |
Gm5157 |
G |
T |
7: 20,919,396 (GRCm39) |
T49K |
probably damaging |
Het |
Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
G |
T |
17: 33,896,264 (GRCm39) |
D88E |
probably damaging |
Het |
Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
Hunk |
C |
T |
16: 90,272,791 (GRCm39) |
T365M |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,354,669 (GRCm39) |
D972G |
probably benign |
Het |
Mamdc4 |
A |
G |
2: 25,458,273 (GRCm39) |
L379P |
probably damaging |
Het |
Mcrs1 |
A |
G |
15: 99,146,353 (GRCm39) |
L179P |
probably damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,295 (GRCm39) |
A110T |
probably benign |
Het |
Mucl1 |
A |
G |
15: 103,783,934 (GRCm39) |
S91P |
possibly damaging |
Het |
Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
Ndst4 |
A |
C |
3: 125,476,829 (GRCm39) |
D18A |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,058,064 (GRCm39) |
C382* |
probably null |
Het |
Nphs1 |
A |
G |
7: 30,166,991 (GRCm39) |
K747E |
probably benign |
Het |
Nubp2 |
C |
G |
17: 25,103,374 (GRCm39) |
|
probably null |
Het |
Odad2 |
G |
T |
18: 7,211,422 (GRCm39) |
C817* |
probably null |
Het |
Or13a19 |
T |
C |
7: 139,903,236 (GRCm39) |
V208A |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,878,600 (GRCm39) |
D181E |
possibly damaging |
Het |
Or7a36 |
T |
G |
10: 78,820,213 (GRCm39) |
D196E |
probably benign |
Het |
Or7a40 |
A |
G |
16: 16,491,491 (GRCm39) |
M118T |
probably damaging |
Het |
Or8b48 |
A |
G |
9: 38,492,977 (GRCm39) |
T135A |
probably benign |
Het |
Pcdhac2 |
T |
G |
18: 37,279,555 (GRCm39) |
L845R |
probably damaging |
Het |
Pcdhb14 |
A |
C |
18: 37,581,787 (GRCm39) |
T298P |
probably damaging |
Het |
Phldb2 |
A |
T |
16: 45,592,547 (GRCm39) |
L957Q |
possibly damaging |
Het |
Pole |
A |
G |
5: 110,459,959 (GRCm39) |
D1121G |
possibly damaging |
Het |
Ppp1r3g |
C |
A |
13: 36,153,612 (GRCm39) |
T344K |
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,385,681 (GRCm39) |
K954R |
possibly damaging |
Het |
Prr15l |
C |
A |
11: 96,825,440 (GRCm39) |
Y23* |
probably null |
Het |
Sap18b |
A |
G |
8: 96,552,098 (GRCm39) |
E36G |
possibly damaging |
Het |
Slc46a2 |
A |
T |
4: 59,914,241 (GRCm39) |
F227L |
probably benign |
Het |
Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,550,930 (GRCm39) |
K506N |
|
Het |
Ssc5d |
C |
A |
7: 4,946,568 (GRCm39) |
T974K |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,545,345 (GRCm39) |
R2491S |
probably damaging |
Het |
Tex2 |
T |
C |
11: 106,437,579 (GRCm39) |
E697G |
unknown |
Het |
Tmem44 |
A |
T |
16: 30,366,226 (GRCm39) |
F67I |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,278,570 (GRCm39) |
D77G |
possibly damaging |
Het |
Ttc9 |
A |
G |
12: 81,710,301 (GRCm39) |
I198V |
probably benign |
Het |
Ttn |
C |
T |
2: 76,661,550 (GRCm39) |
V11942M |
unknown |
Het |
Uqcrc2 |
T |
A |
7: 120,237,118 (GRCm39) |
Y55* |
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,571,273 (GRCm39) |
M209L |
probably benign |
Het |
Vmn2r50 |
A |
T |
7: 9,771,960 (GRCm39) |
C580* |
probably null |
Het |
Vmn2r96 |
A |
G |
17: 18,793,758 (GRCm39) |
E34G |
probably benign |
Het |
Zmynd8 |
C |
T |
2: 165,654,268 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Npc1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Npc1l1
|
APN |
11 |
6,174,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Npc1l1
|
APN |
11 |
6,177,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01891:Npc1l1
|
APN |
11 |
6,164,280 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01897:Npc1l1
|
APN |
11 |
6,177,879 (GRCm39) |
missense |
probably benign |
|
IGL02098:Npc1l1
|
APN |
11 |
6,164,581 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Npc1l1
|
APN |
11 |
6,178,157 (GRCm39) |
missense |
probably benign |
|
IGL02724:Npc1l1
|
APN |
11 |
6,164,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02947:Npc1l1
|
APN |
11 |
6,179,246 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03328:Npc1l1
|
APN |
11 |
6,168,643 (GRCm39) |
nonsense |
probably null |
|
R0137:Npc1l1
|
UTSW |
11 |
6,178,148 (GRCm39) |
nonsense |
probably null |
|
R0322:Npc1l1
|
UTSW |
11 |
6,179,042 (GRCm39) |
missense |
probably benign |
|
R0352:Npc1l1
|
UTSW |
11 |
6,173,076 (GRCm39) |
missense |
probably benign |
0.00 |
R0492:Npc1l1
|
UTSW |
11 |
6,173,040 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0918:Npc1l1
|
UTSW |
11 |
6,168,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R1300:Npc1l1
|
UTSW |
11 |
6,177,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R1455:Npc1l1
|
UTSW |
11 |
6,178,174 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1588:Npc1l1
|
UTSW |
11 |
6,167,785 (GRCm39) |
missense |
probably benign |
0.01 |
R1803:Npc1l1
|
UTSW |
11 |
6,178,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Npc1l1
|
UTSW |
11 |
6,167,473 (GRCm39) |
splice site |
probably null |
|
R1944:Npc1l1
|
UTSW |
11 |
6,164,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1945:Npc1l1
|
UTSW |
11 |
6,175,199 (GRCm39) |
nonsense |
probably null |
|
R1945:Npc1l1
|
UTSW |
11 |
6,164,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3155:Npc1l1
|
UTSW |
11 |
6,171,840 (GRCm39) |
missense |
probably benign |
|
R4343:Npc1l1
|
UTSW |
11 |
6,167,773 (GRCm39) |
missense |
probably benign |
|
R4504:Npc1l1
|
UTSW |
11 |
6,178,741 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4610:Npc1l1
|
UTSW |
11 |
6,178,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Npc1l1
|
UTSW |
11 |
6,168,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Npc1l1
|
UTSW |
11 |
6,164,010 (GRCm39) |
critical splice donor site |
probably null |
|
R5135:Npc1l1
|
UTSW |
11 |
6,174,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5290:Npc1l1
|
UTSW |
11 |
6,172,221 (GRCm39) |
missense |
probably benign |
0.00 |
R5369:Npc1l1
|
UTSW |
11 |
6,167,705 (GRCm39) |
critical splice donor site |
probably null |
|
R5388:Npc1l1
|
UTSW |
11 |
6,164,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R5532:Npc1l1
|
UTSW |
11 |
6,174,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R5540:Npc1l1
|
UTSW |
11 |
6,164,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5754:Npc1l1
|
UTSW |
11 |
6,177,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Npc1l1
|
UTSW |
11 |
6,179,031 (GRCm39) |
missense |
probably benign |
0.02 |
R6057:Npc1l1
|
UTSW |
11 |
6,167,806 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6388:Npc1l1
|
UTSW |
11 |
6,174,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6644:Npc1l1
|
UTSW |
11 |
6,164,014 (GRCm39) |
missense |
probably damaging |
0.98 |
R6644:Npc1l1
|
UTSW |
11 |
6,164,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R6756:Npc1l1
|
UTSW |
11 |
6,165,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Npc1l1
|
UTSW |
11 |
6,164,260 (GRCm39) |
splice site |
probably null |
|
R7006:Npc1l1
|
UTSW |
11 |
6,167,731 (GRCm39) |
missense |
probably benign |
|
R7062:Npc1l1
|
UTSW |
11 |
6,167,807 (GRCm39) |
missense |
probably benign |
|
R7273:Npc1l1
|
UTSW |
11 |
6,168,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7383:Npc1l1
|
UTSW |
11 |
6,167,777 (GRCm39) |
missense |
probably benign |
0.30 |
R8003:Npc1l1
|
UTSW |
11 |
6,165,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8081:Npc1l1
|
UTSW |
11 |
6,167,768 (GRCm39) |
missense |
probably benign |
0.01 |
R8272:Npc1l1
|
UTSW |
11 |
6,179,327 (GRCm39) |
nonsense |
probably null |
|
R8549:Npc1l1
|
UTSW |
11 |
6,168,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Npc1l1
|
UTSW |
11 |
6,179,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R8887:Npc1l1
|
UTSW |
11 |
6,175,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Npc1l1
|
UTSW |
11 |
6,178,157 (GRCm39) |
missense |
probably benign |
0.28 |
R9102:Npc1l1
|
UTSW |
11 |
6,164,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9289:Npc1l1
|
UTSW |
11 |
6,168,355 (GRCm39) |
nonsense |
probably null |
|
R9785:Npc1l1
|
UTSW |
11 |
6,180,090 (GRCm39) |
missense |
unknown |
|
X0022:Npc1l1
|
UTSW |
11 |
6,178,058 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Npc1l1
|
UTSW |
11 |
6,175,209 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Npc1l1
|
UTSW |
11 |
6,168,681 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Npc1l1
|
UTSW |
11 |
6,164,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGACTGGTAGGACAAAATTCCTG -3'
(R):5'- ATGAGGCACAGCGCAACATC -3'
Sequencing Primer
(F):5'- TCCTGCAGGAATAAGATGGGAGTG -3'
(R):5'- ACATCTCCCTCCAGGACATCTG -3'
|
Posted On |
2022-09-12 |