Incidental Mutation 'R5148:Olr1'
| ID |
395200 |
| 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 |
043262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129470572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 198
(D198E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032265]
[ENSMUST00000182784]
[ENSMUST00000183258]
|
| AlphaFold |
Q9EQ09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032265
AA Change: D198E
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: D198E
| 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 |
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 126,819,285 (GRCm39) |
|
probably null |
Het |
| Atf7 |
A |
G |
15: 102,455,608 (GRCm39) |
M252T |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,606,519 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,992,611 (GRCm39) |
V667A |
probably benign |
Het |
| Cntf |
T |
C |
19: 12,741,368 (GRCm39) |
E164G |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,321,893 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,511,972 (GRCm39) |
|
probably benign |
Het |
| Gm12790 |
C |
T |
4: 101,825,268 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gm5444 |
C |
T |
13: 4,884,314 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,110 (GRCm39) |
Y574* |
probably null |
Het |
| Gss |
G |
T |
2: 155,415,029 (GRCm39) |
N225K |
possibly damaging |
Het |
| Il17rc |
G |
T |
6: 113,459,958 (GRCm39) |
A635S |
probably benign |
Het |
| Lhfpl5 |
T |
A |
17: 28,798,942 (GRCm39) |
D150E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc40 |
T |
G |
3: 157,760,206 (GRCm39) |
|
probably null |
Het |
| Ly6f |
A |
G |
15: 75,143,646 (GRCm39) |
T118A |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 16,147,037 (GRCm39) |
N1960D |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,130,158 (GRCm39) |
H253R |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,639,084 (GRCm39) |
L1025P |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,203,321 (GRCm39) |
G474W |
probably damaging |
Het |
| Or5b123 |
C |
A |
19: 13,596,874 (GRCm39) |
S116* |
probably null |
Het |
| Or5d14 |
G |
A |
2: 87,880,737 (GRCm39) |
T77I |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,317 (GRCm39) |
I66T |
probably benign |
Het |
| Pafah1b1 |
A |
T |
11: 74,575,278 (GRCm39) |
S209T |
probably damaging |
Het |
| Phf14 |
A |
T |
6: 11,961,641 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,615,455 (GRCm39) |
V855A |
probably benign |
Het |
| Pira2 |
T |
G |
7: 3,847,592 (GRCm39) |
R32S |
possibly damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,676 (GRCm39) |
I344V |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,881 (GRCm39) |
V93A |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,640,098 (GRCm39) |
L186F |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,048,999 (GRCm39) |
C303W |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,390,342 (GRCm39) |
N100Y |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,503 (GRCm39) |
L96Q |
probably damaging |
Het |
| Slc12a8 |
G |
A |
16: 33,445,288 (GRCm39) |
R448H |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,626,892 (GRCm39) |
V53E |
probably benign |
Het |
| Ssbp1 |
T |
C |
6: 40,454,883 (GRCm39) |
V114A |
possibly damaging |
Het |
| T |
A |
G |
17: 8,655,037 (GRCm39) |
E47G |
probably damaging |
Het |
| Tmem156 |
T |
C |
5: 65,231,111 (GRCm39) |
K189R |
probably benign |
Het |
| Trim47 |
G |
T |
11: 115,998,678 (GRCm39) |
Q314K |
possibly damaging |
Het |
| Vmn2r3 |
G |
T |
3: 64,186,247 (GRCm39) |
P146Q |
probably damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,464,015 (GRCm39) |
V273G |
probably damaging |
Het |
| Wrnip1 |
G |
T |
13: 32,990,839 (GRCm39) |
R366L |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,621,357 (GRCm39) |
H94L |
possibly damaging |
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 |
|
R5659:Olr1
|
UTSW |
6 |
129,476,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GCGCAATGGCACTAACAGAG -3'
(R):5'- ATGAGGGAAGTTCACATTCTGC -3'
Sequencing Primer
(F):5'- AGGGCACTCTGAATATTTGGC -3'
(R):5'- AGAGTCTCATTCTGTAGCCCAGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation