Incidental Mutation 'IGL01751:Olr1'
ID |
153127 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Olr1
|
Ensembl Gene |
ENSMUSG00000030162 |
Gene Name |
oxidized low density lipoprotein (lectin-like) receptor 1 |
Synonyms |
Scare1, SR-EI, LOX-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01751
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129465811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 65
(N65S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032265]
[ENSMUST00000182784]
[ENSMUST00000183258]
|
AlphaFold |
Q9EQ09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032265
AA Change: N273S
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000032265 Gene: ENSMUSG00000030162 AA Change: N273S
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
AA Change: N99S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000138588 Gene: ENSMUSG00000030162 AA Change: N99S
Domain | Start | End | E-Value | Type |
CLECT
|
61 |
181 |
3.83e-21 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183258
AA Change: N65S
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138228 Gene: ENSMUSG00000030162 AA Change: N65S
Domain | Start | End | E-Value | Type |
CLECT
|
27 |
147 |
3.83e-21 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000203564
AA Change: N61S
|
Coding Region Coverage |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
Itpkc |
G |
A |
7: 26,912,491 (GRCm39) |
|
probably benign |
Het |
Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
Necab1 |
T |
C |
4: 14,978,171 (GRCm39) |
D226G |
probably damaging |
Het |
Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,977 (GRCm39) |
C139S |
possibly damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
Smg7 |
T |
C |
1: 152,719,812 (GRCm39) |
D903G |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
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 |
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 |
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 |
|
|
Posted On |
2014-02-04 |