Incidental Mutation 'R1375:Olr1'
| ID |
157466 |
| 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 |
039439-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129484039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 11
(N11S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032265]
[ENSMUST00000162815]
[ENSMUST00000182784]
[ENSMUST00000183258]
|
| AlphaFold |
Q9EQ09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032265
AA Change: N11S
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: N11S
| 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: ENSMUST00000162815
AA Change: N11S
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124660
Gene: ENSMUSG00000030162
AA Change: N11S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
24 |
75 |
1e-8 |
BLAST |
|
low complexity region
|
76 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182784
AA Change: N11S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138588
Gene: ENSMUSG00000030162
AA Change: N11S
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
61 |
181 |
3.83e-21 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183258
AA Change: N11S
|
| SMART Domains |
Protein: ENSMUSP00000138228
Gene: ENSMUSG00000030162
AA Change: N11S
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
27 |
147 |
3.83e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.8%
- 20x: 89.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,243,042 (GRCm39) |
V1268A |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,225,354 (GRCm39) |
D78E |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,513,095 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Defb15 |
T |
C |
8: 22,420,071 (GRCm39) |
N19D |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,956,269 (GRCm39) |
G2083D |
probably damaging |
Het |
| Ggn |
T |
C |
7: 28,871,366 (GRCm39) |
S249P |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,825 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,268,435 (GRCm39) |
L514Q |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,547,246 (GRCm39) |
H678N |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,679 (GRCm39) |
I846T |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,232,854 (GRCm39) |
|
probably null |
Het |
| Il17b |
T |
C |
18: 61,823,325 (GRCm39) |
V53A |
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,753 (GRCm39) |
L166* |
probably null |
Het |
| Mdfic2 |
C |
T |
6: 98,215,260 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,653,568 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,543 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,177,006 (GRCm39) |
|
probably benign |
Het |
| Or5w1b |
T |
A |
2: 87,476,081 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,305 (GRCm39) |
L82P |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,506,241 (GRCm39) |
L12Q |
probably null |
Het |
| Or8b46 |
T |
A |
9: 38,450,830 (GRCm39) |
V213D |
possibly damaging |
Het |
| Pipox |
C |
A |
11: 77,772,036 (GRCm39) |
E363* |
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,078,673 (GRCm39) |
|
probably null |
Het |
| Septin1 |
T |
C |
7: 126,817,333 (GRCm39) |
D25G |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,805,106 (GRCm39) |
N152D |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,029 (GRCm39) |
V1307A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,087,423 (GRCm39) |
N1180I |
probably 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 |
|
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 |
|
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'- GCCGTAGCATGGAGAACAGCTTATAC -3'
(R):5'- GAATGTGCTTCTTTGACTTCCAAACCC -3'
Sequencing Primer
(F):5'- CCTTCTAAATAAATGGTCTTGGTCTC -3'
(R):5'- ATAATTGTCGTGGTCAGCCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation