Incidental Mutation 'R8272:Npc1l1'
ID |
637795 |
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 |
067695-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R8272 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6161013-6180143 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 6179327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 28
(K28*)
|
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: K28*
|
SMART Domains |
Protein: ENSMUSP00000004505 Gene: ENSMUSG00000020447 AA Change: K28*
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: 98.6%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
G |
A |
2: 103,856,499 (GRCm39) |
R21C |
unknown |
Het |
4933407L21Rik |
G |
T |
1: 85,859,118 (GRCm39) |
E90* |
probably null |
Het |
Abca15 |
A |
G |
7: 120,006,665 (GRCm39) |
Y1643C |
probably damaging |
Het |
Adtrp |
G |
T |
13: 41,969,630 (GRCm39) |
A123D |
probably damaging |
Het |
Asmt |
A |
T |
X: 169,106,460 (GRCm39) |
D20V |
possibly damaging |
Het |
Bid |
T |
C |
6: 120,877,176 (GRCm39) |
E55G |
probably damaging |
Het |
Brd3 |
A |
G |
2: 27,351,725 (GRCm39) |
V176A |
probably benign |
Het |
Btnl2 |
G |
T |
17: 34,575,275 (GRCm39) |
|
probably null |
Het |
Card11 |
A |
G |
5: 140,875,794 (GRCm39) |
S562P |
probably damaging |
Het |
Carmil1 |
T |
G |
13: 24,220,562 (GRCm39) |
H1054P |
probably benign |
Het |
Casp8 |
T |
G |
1: 58,872,901 (GRCm39) |
M259R |
probably damaging |
Het |
Ccin |
G |
A |
4: 43,984,064 (GRCm39) |
R157H |
probably damaging |
Het |
Cfap45 |
G |
A |
1: 172,355,406 (GRCm39) |
R18Q |
possibly damaging |
Het |
Chuk |
A |
G |
19: 44,092,175 (GRCm39) |
I41T |
possibly damaging |
Het |
Col28a1 |
G |
A |
6: 8,154,175 (GRCm39) |
P333L |
possibly damaging |
Het |
Cspg4b |
A |
T |
13: 113,504,889 (GRCm39) |
D1979V |
|
Het |
Ctnna3 |
T |
G |
10: 64,838,377 (GRCm39) |
V818G |
probably damaging |
Het |
Cyp4f18 |
G |
T |
8: 72,742,935 (GRCm39) |
L456M |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,457,256 (GRCm39) |
V598A |
probably benign |
Het |
Dhrs7b |
C |
A |
11: 60,742,580 (GRCm39) |
Q91K |
probably benign |
Het |
Dnah11 |
T |
A |
12: 118,074,752 (GRCm39) |
T1367S |
probably benign |
Het |
Fam98b |
T |
A |
2: 117,093,335 (GRCm39) |
C183S |
probably benign |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Fbxw15 |
A |
C |
9: 109,388,828 (GRCm39) |
S194A |
probably benign |
Het |
Flrt3 |
G |
T |
2: 140,502,617 (GRCm39) |
P337Q |
probably damaging |
Het |
Gm12695 |
A |
G |
4: 96,612,183 (GRCm39) |
Y527H |
possibly damaging |
Het |
Gramd1b |
T |
C |
9: 40,215,820 (GRCm39) |
T677A |
probably benign |
Het |
Grm8 |
A |
T |
6: 27,363,281 (GRCm39) |
S745T |
probably damaging |
Het |
Kctd8 |
T |
C |
5: 69,267,803 (GRCm39) |
K436E |
probably benign |
Het |
Klf5 |
G |
T |
14: 99,539,540 (GRCm39) |
A318S |
possibly damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,179,566 (GRCm39) |
V505M |
unknown |
Het |
Letm2 |
A |
G |
8: 26,076,672 (GRCm39) |
L310P |
probably damaging |
Het |
Lrrc4 |
T |
C |
6: 28,662,192 (GRCm39) |
H174R |
unknown |
Het |
Myh11 |
T |
C |
16: 14,036,718 (GRCm39) |
S995G |
|
Het |
Myh7b |
A |
T |
2: 155,474,824 (GRCm39) |
E1787D |
probably damaging |
Het |
Myoc |
T |
C |
1: 162,466,995 (GRCm39) |
S55P |
probably benign |
Het |
Naaladl2 |
T |
C |
3: 24,112,366 (GRCm39) |
Q572R |
probably damaging |
Het |
Nanog |
T |
A |
6: 122,688,736 (GRCm39) |
S131T |
probably benign |
Het |
Nifk |
A |
G |
1: 118,260,134 (GRCm39) |
K230E |
probably benign |
Het |
Nlrp10 |
A |
G |
7: 108,525,103 (GRCm39) |
S126P |
probably benign |
Het |
Or13m2-ps1 |
A |
G |
6: 42,778,038 (GRCm39) |
D121G |
probably damaging |
Het |
Or5b102 |
G |
A |
19: 13,040,795 (GRCm39) |
V7M |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,279,242 (GRCm39) |
C741S |
probably benign |
Het |
Pcx |
A |
T |
19: 4,651,758 (GRCm39) |
N45I |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,166,182 (GRCm39) |
V582A |
probably damaging |
Het |
Plcxd3 |
G |
T |
15: 4,546,218 (GRCm39) |
R74L |
probably damaging |
Het |
Ptpn21 |
G |
A |
12: 98,654,789 (GRCm39) |
A726V |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,026,969 (GRCm39) |
V131A |
possibly damaging |
Het |
Rrp1b |
A |
G |
17: 32,276,163 (GRCm39) |
K570R |
probably benign |
Het |
Serpinb1a |
A |
T |
13: 33,029,720 (GRCm39) |
F167L |
probably damaging |
Het |
Slc12a1 |
T |
C |
2: 125,070,736 (GRCm39) |
L1076S |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,425,453 (GRCm39) |
T25S |
probably benign |
Het |
Syvn1 |
G |
A |
19: 6,097,971 (GRCm39) |
R3H |
probably damaging |
Het |
Tead2 |
A |
G |
7: 44,878,166 (GRCm39) |
E280G |
probably benign |
Het |
Tmem263 |
T |
A |
10: 84,950,431 (GRCm39) |
V74E |
possibly damaging |
Het |
Tmem38b |
T |
A |
4: 53,854,332 (GRCm39) |
L188Q |
probably damaging |
Het |
Tmod4 |
C |
T |
3: 95,033,171 (GRCm39) |
T55I |
probably damaging |
Het |
Tmprss12 |
A |
T |
15: 100,180,146 (GRCm39) |
E62V |
probably benign |
Het |
Trim27 |
G |
A |
13: 21,364,780 (GRCm39) |
C39Y |
probably benign |
Het |
Vmn2r110 |
A |
G |
17: 20,816,490 (GRCm39) |
L11S |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,702,373 (GRCm39) |
Y53C |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,596,817 (GRCm39) |
F79L |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,727,209 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
G |
1: 63,345,142 (GRCm39) |
T1174A |
probably benign |
Het |
Zfhx4 |
T |
G |
3: 5,308,927 (GRCm39) |
S718A |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,376,213 (GRCm39) |
T41A |
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 |
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 |
|
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'- TGACACCAGCTGCTTGGTAG -3'
(R):5'- TGGCACCCTAAGCATAGCAC -3'
Sequencing Primer
(F):5'- CAACAGGCATAGGTGTCATTG -3'
(R):5'- TAAGCATAGCACGAGCCCC -3'
|
Posted On |
2020-07-28 |