Incidental Mutation 'R4929:Olr1'
| ID |
381085 |
| 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 |
042530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4929 (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 129477044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 74
(T74A)
|
| 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: T74A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: T74A
| 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 damaging
Transcript: ENSMUST00000162815
AA Change: T40A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124660
Gene: ENSMUSG00000030162
AA Change: T40A
| 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
|
| Meta Mutation Damage Score |
0.1589 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
| Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
| Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
| Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
| Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
| Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
| Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
| Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
| Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
| Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
| Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
| Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
| Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
| Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
| Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
| Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
| Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
| Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
| Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
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 |
|
|
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'- CCCTGTACCTGAAGAGTTTGC -3'
(R):5'- TCAATGAAGTGCATTTAGTCCTCC -3'
Sequencing Primer
(F):5'- ACCTGAAGAGTTTGCAGCTC -3'
(R):5'- CACTGATCTGTGGTCAAGA -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation