Incidental Mutation 'R6037:Olr1'
| ID |
479255 |
| 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 |
043258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129470504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 221
(L221P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032265]
[ENSMUST00000182784]
[ENSMUST00000183258]
|
| AlphaFold |
Q9EQ09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032265
AA Change: L221P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: L221P
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.4%
- 20x: 72.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abi2 |
C |
A |
1: 60,503,738 (GRCm39) |
P212T |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 89,153,108 (GRCm39) |
F68S |
possibly damaging |
Het |
| Art5 |
C |
A |
7: 101,747,591 (GRCm39) |
A63S |
probably benign |
Het |
| Asgr1 |
T |
A |
11: 69,947,247 (GRCm39) |
S96R |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,163,957 (GRCm39) |
V2248D |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 135,998,705 (GRCm39) |
A200V |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,390,738 (GRCm39) |
K357E |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,864,282 (GRCm38) |
N348S |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,837,126 (GRCm39) |
G212R |
probably benign |
Het |
| Dcun1d3 |
A |
G |
7: 119,456,965 (GRCm39) |
F249S |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,449,112 (GRCm39) |
Y17C |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,760 (GRCm39) |
T425I |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,306 (GRCm39) |
E562G |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,177,295 (GRCm39) |
T2001A |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,527,867 (GRCm39) |
R940H |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,351,644 (GRCm39) |
M1716K |
probably benign |
Het |
| Gm10684 |
T |
A |
9: 45,019,039 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,311,416 (GRCm39) |
V1219I |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,455,938 (GRCm39) |
V177M |
probably damaging |
Het |
| Klf12 |
T |
C |
14: 100,137,650 (GRCm39) |
S299G |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,848,806 (GRCm39) |
R265C |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,216,424 (GRCm39) |
T800A |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,831 (GRCm39) |
L2729P |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,532 (GRCm39) |
S2167R |
possibly damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,032 (GRCm39) |
K400E |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,712,423 (GRCm39) |
I656N |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,384 (GRCm39) |
T418A |
probably benign |
Het |
| Or14c44 |
C |
T |
7: 86,062,478 (GRCm39) |
L303F |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,876,928 (GRCm39) |
M34T |
probably benign |
Het |
| Or8b3 |
T |
A |
9: 38,314,601 (GRCm39) |
C144S |
probably benign |
Het |
| Or8g22 |
A |
G |
9: 38,958,403 (GRCm39) |
V104A |
probably damaging |
Het |
| Or8k28 |
T |
A |
2: 86,286,133 (GRCm39) |
I161L |
probably benign |
Het |
| Pih1d1 |
C |
T |
7: 44,805,738 (GRCm39) |
A69V |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,967 (GRCm39) |
S656R |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,377,943 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,787,566 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,063,595 (GRCm39) |
Y2277F |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,502,240 (GRCm39) |
Q7R |
probably damaging |
Het |
| Thrsp |
T |
G |
7: 97,066,499 (GRCm39) |
D71A |
possibly damaging |
Het |
| Vmn2r1 |
C |
A |
3: 63,989,150 (GRCm39) |
Q30K |
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,787,005 (GRCm39) |
P345S |
probably benign |
Het |
| Zeb2 |
G |
T |
2: 44,878,652 (GRCm39) |
S1170* |
probably null |
Het |
| Zfp947 |
A |
G |
17: 22,366,415 (GRCm39) |
Y38H |
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 |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation