Incidental Mutation 'R5659:Olr1'
| ID |
443972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olr1
|
| Ensembl Gene |
ENSMUSG00000030162 |
| Gene Name |
oxidized low density lipoprotein (lectin-like) receptor 1 |
| Synonyms |
Scare1, SR-EI, LOX-1 |
| MMRRC Submission |
043303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129476992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 91
(E91V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032265]
[ENSMUST00000162815]
[ENSMUST00000182784]
[ENSMUST00000183258]
|
| AlphaFold |
Q9EQ09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032265
AA Change: E91V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: E91V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
45 |
186 |
4e-13 |
BLAST |
|
low complexity region
|
202 |
226 |
N/A |
INTRINSIC |
|
CLECT
|
235 |
355 |
3.83e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162815
AA Change: E57V
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124660
Gene: ENSMUSG00000030162
AA Change: E57V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
24 |
75 |
1e-8 |
BLAST |
|
low complexity region
|
76 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182784
|
| SMART Domains |
Protein: ENSMUSP00000138588
Gene: ENSMUSG00000030162
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
61 |
181 |
3.83e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183258
|
| SMART Domains |
Protein: ENSMUSP00000138228
Gene: ENSMUSG00000030162
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
27 |
147 |
3.83e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203564
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
| Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
| Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
| Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
| Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
| Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
| Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
| Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
| Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
| Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
| Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
| Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
| Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
| Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
| Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
| Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
| Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
| Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
| Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
| Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
probably benign |
Het |
|
| Other mutations in Olr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Olr1
|
APN |
6 |
129,470,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01751:Olr1
|
APN |
6 |
129,465,811 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02308:Olr1
|
APN |
6 |
129,476,860 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03120:Olr1
|
APN |
6 |
129,465,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03237:Olr1
|
APN |
6 |
129,479,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Olr1
|
UTSW |
6 |
129,477,032 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
PIT4618001:Olr1
|
UTSW |
6 |
129,476,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0112:Olr1
|
UTSW |
6 |
129,465,869 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1375:Olr1
|
UTSW |
6 |
129,484,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1650:Olr1
|
UTSW |
6 |
129,484,052 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1828:Olr1
|
UTSW |
6 |
129,465,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1971:Olr1
|
UTSW |
6 |
129,470,498 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2074:Olr1
|
UTSW |
6 |
129,479,057 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3110:Olr1
|
UTSW |
6 |
129,476,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3112:Olr1
|
UTSW |
6 |
129,476,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3735:Olr1
|
UTSW |
6 |
129,476,838 (GRCm39) |
unclassified |
probably benign |
|
|
R3736:Olr1
|
UTSW |
6 |
129,476,838 (GRCm39) |
unclassified |
probably benign |
|
|
R4200:Olr1
|
UTSW |
6 |
129,479,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4780:Olr1
|
UTSW |
6 |
129,465,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4801:Olr1
|
UTSW |
6 |
129,465,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4802:Olr1
|
UTSW |
6 |
129,465,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4856:Olr1
|
UTSW |
6 |
129,470,559 (GRCm39) |
nonsense |
probably null |
|
|
R4929:Olr1
|
UTSW |
6 |
129,477,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Olr1
|
UTSW |
6 |
129,470,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6037:Olr1
|
UTSW |
6 |
129,470,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Olr1
|
UTSW |
6 |
129,470,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Olr1
|
UTSW |
6 |
129,476,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Olr1
|
UTSW |
6 |
129,470,522 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6676:Olr1
|
UTSW |
6 |
129,477,040 (GRCm39) |
splice site |
probably null |
|
|
R7001:Olr1
|
UTSW |
6 |
129,465,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Olr1
|
UTSW |
6 |
129,465,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Olr1
|
UTSW |
6 |
129,470,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Olr1
|
UTSW |
6 |
129,470,202 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTAAGACTGGGCTGAACACC -3'
(R):5'- CATTTTCTGTCAACACTGATCTGTG -3'
Sequencing Primer
(F):5'- TGGGCTGAACACCCACCAG -3'
(R):5'- CTGTCAACACTGATCTGTGGTCAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation