Incidental Mutation 'R9289:Npc1l1'
| ID |
704153 |
| 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 # |
R9289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6161013-6180143 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 6168355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 945
(Y945*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004505]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004505
AA Change: Y945*
|
| SMART Domains |
Protein: ENSMUSP00000004505
Gene: ENSMUSG00000020447
AA Change: Y945*
| 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: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,333 (GRCm39) |
T306I |
probably benign |
Het |
| Aurkb |
T |
C |
11: 68,941,175 (GRCm39) |
I250T |
probably damaging |
Het |
| C1qtnf1 |
A |
G |
11: 118,334,672 (GRCm39) |
T51A |
probably benign |
Het |
| C1rb |
G |
T |
6: 124,552,272 (GRCm39) |
R330L |
possibly damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
T |
10: 41,607,082 (GRCm39) |
D160E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,992,491 (GRCm39) |
S320N |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,936 (GRCm39) |
S3039P |
possibly damaging |
Het |
| Chia1 |
A |
T |
3: 106,022,502 (GRCm39) |
|
probably benign |
Het |
| Chka |
T |
G |
19: 3,935,953 (GRCm39) |
F220V |
possibly damaging |
Het |
| Cmtm2b |
A |
G |
8: 105,048,980 (GRCm39) |
|
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,098,079 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,920,603 (GRCm39) |
T304A |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,189 (GRCm39) |
D164E |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,071,152 (GRCm39) |
K661I |
probably damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,568,681 (GRCm39) |
L1581H |
probably damaging |
Het |
| Fam219a |
C |
A |
4: 41,521,942 (GRCm39) |
G46V |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,490,766 (GRCm39) |
V1028M |
probably damaging |
Het |
| Glb1 |
C |
A |
9: 114,249,558 (GRCm39) |
A129E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,447,608 (GRCm39) |
V1767A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,199 (GRCm39) |
S591T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,885,187 (GRCm39) |
K1023R |
probably benign |
Het |
| Mfng |
C |
A |
15: 78,643,457 (GRCm39) |
S250I |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,796,800 (GRCm39) |
T723A |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,785,534 (GRCm39) |
H299L |
probably benign |
Het |
| Naa40 |
T |
C |
19: 7,211,485 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ncdn |
A |
C |
4: 126,643,903 (GRCm39) |
F306L |
possibly damaging |
Het |
| Notch3 |
A |
G |
17: 32,377,254 (GRCm39) |
C246R |
probably damaging |
Het |
| Or2av9 |
T |
A |
11: 58,380,745 (GRCm39) |
I279L |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2y14 |
C |
T |
11: 49,404,635 (GRCm39) |
P57S |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,816 (GRCm39) |
W28R |
probably damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,028,853 (GRCm39) |
D1044E |
|
Het |
| Pgm2l1 |
T |
A |
7: 99,919,629 (GRCm39) |
I575K |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,272,100 (GRCm39) |
I553T |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,130 (GRCm39) |
V2513A |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,593 (GRCm39) |
V983E |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,241,547 (GRCm39) |
S190P |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,716,982 (GRCm39) |
E163G |
probably benign |
Het |
| Scgb2b12 |
T |
C |
7: 32,026,060 (GRCm39) |
H44R |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,792 (GRCm39) |
C513* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,998,257 (GRCm39) |
K379E |
probably damaging |
Het |
| Slc52a2 |
G |
T |
15: 76,424,475 (GRCm39) |
V238L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,639 (GRCm39) |
H3171R |
possibly damaging |
Het |
| Tada3 |
A |
G |
6: 113,347,264 (GRCm39) |
V342A |
possibly damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,262 (GRCm39) |
V264A |
probably damaging |
Het |
| Tmco5 |
G |
A |
2: 116,710,745 (GRCm39) |
A22T |
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,975,697 (GRCm39) |
F549S |
probably benign |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,086 (GRCm39) |
F54S |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,736,281 (GRCm39) |
K5* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,381,367 (GRCm39) |
I139T |
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,878 (GRCm39) |
V711D |
probably benign |
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 |
|
R9626:Npc1l1
|
UTSW |
11 |
6,177,854 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- GCCTCAGTTTCCCTAAGCTG -3'
(R):5'- TCCAGTATGCCAGTGAATTCC -3'
Sequencing Primer
(F):5'- TCCCTAAGCTGTAATGGGCAG -3'
(R):5'- AATCAGTAAGTGGTTGGTCTCCCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation