Incidental Mutation 'ANU74:Olr1'
ID |
262701 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
ANU74
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 129477032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 78
(R78C)
|
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: R78C
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032265 Gene: ENSMUSG00000030162 AA Change: R78C
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: R44C
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124660 Gene: ENSMUSG00000030162 AA Change: R44C
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
G |
A |
5: 50,118,380 (GRCm39) |
S1056L |
probably benign |
Het |
Ankrd26 |
A |
T |
6: 118,529,736 (GRCm39) |
D236E |
probably benign |
Het |
Capn15 |
C |
T |
17: 26,184,460 (GRCm39) |
W7* |
probably null |
Het |
Celsr2 |
G |
A |
3: 108,319,815 (GRCm39) |
T999M |
probably damaging |
Het |
Chrd |
T |
A |
16: 20,560,069 (GRCm39) |
M912K |
possibly damaging |
Het |
Col9a1 |
A |
G |
1: 24,224,409 (GRCm39) |
D197G |
unknown |
Het |
Csf1r |
A |
G |
18: 61,250,463 (GRCm39) |
E431G |
probably benign |
Het |
Eloc |
A |
G |
1: 16,713,574 (GRCm39) |
F115L |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,378,113 (GRCm39) |
D193G |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,253,162 (GRCm39) |
Y210H |
probably damaging |
Het |
Fut9 |
G |
C |
4: 25,620,802 (GRCm39) |
T4R |
probably benign |
Het |
Grb2 |
A |
T |
11: 115,536,733 (GRCm39) |
D131E |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,964,853 (GRCm39) |
T658A |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,876,627 (GRCm39) |
E1289G |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,292,560 (GRCm39) |
N92D |
possibly damaging |
Het |
Irf8 |
A |
C |
8: 121,466,608 (GRCm39) |
I18L |
possibly damaging |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
Kif12 |
GC |
"GCCTCCACCCGGCGGTC,GCC" |
4: 63,089,663 (GRCm39) |
|
probably null |
Het |
Lamc2 |
A |
C |
1: 153,007,581 (GRCm39) |
D864E |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,451,863 (GRCm39) |
V1475A |
probably damaging |
Het |
Mapk8ip3 |
A |
C |
17: 25,119,551 (GRCm39) |
M1030R |
possibly damaging |
Het |
Mat1a |
A |
G |
14: 40,833,099 (GRCm39) |
D94G |
probably benign |
Het |
Myh15 |
T |
A |
16: 48,993,295 (GRCm39) |
D1643E |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,769,239 (GRCm39) |
F55L |
probably damaging |
Het |
Nhlh2 |
A |
T |
3: 101,919,970 (GRCm39) |
M1L |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,924,978 (GRCm39) |
S1836P |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
Pam16 |
C |
A |
16: 4,434,497 (GRCm39) |
V98F |
probably damaging |
Het |
Pelp1 |
C |
T |
11: 70,285,913 (GRCm39) |
V652I |
probably damaging |
Het |
Pole |
A |
G |
5: 110,437,236 (GRCm39) |
H67R |
probably benign |
Het |
Rbms1 |
G |
T |
2: 60,628,060 (GRCm39) |
A60E |
probably damaging |
Het |
Recql4 |
A |
T |
15: 76,589,957 (GRCm39) |
M789K |
possibly damaging |
Het |
Rrn3 |
T |
C |
16: 13,629,397 (GRCm39) |
F571S |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,661,575 (GRCm39) |
|
probably null |
Het |
Sec61b |
C |
A |
4: 47,474,922 (GRCm39) |
N26K |
possibly damaging |
Het |
Serinc1 |
T |
C |
10: 57,395,938 (GRCm39) |
E284G |
probably benign |
Het |
Slc30a9 |
G |
A |
5: 67,507,195 (GRCm39) |
D496N |
probably damaging |
Het |
Slc44a4 |
G |
A |
17: 35,140,554 (GRCm39) |
R249H |
probably damaging |
Het |
Slc6a13 |
A |
C |
6: 121,311,835 (GRCm39) |
D404A |
probably benign |
Het |
Spata18 |
A |
G |
5: 73,828,456 (GRCm39) |
E225G |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,437,893 (GRCm39) |
G1351S |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,890,310 (GRCm39) |
V691A |
probably damaging |
Het |
Tns3 |
C |
T |
11: 8,442,149 (GRCm39) |
R738Q |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,027,454 (GRCm39) |
I506N |
probably damaging |
Het |
Ube2v1 |
G |
A |
2: 167,452,264 (GRCm39) |
T113I |
probably damaging |
Het |
Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,366,910 (GRCm39) |
S437T |
probably benign |
Het |
Vmn2r78 |
G |
C |
7: 86,570,273 (GRCm39) |
V264L |
possibly damaging |
Het |
Zfp956 |
T |
G |
6: 47,940,507 (GRCm39) |
Y289D |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AATTAAGACTGGGCTGAACACCCAC -3'
(R):5'- TCTGCACGCTGACCAAATCTTCTG -3'
Sequencing Primer
(F):5'- CTGTACCTGAAGAGTTTGCAGC -3'
(R):5'- TTTCCCGGAAGTCAATGAAGTG -3'
|
Posted On |
2015-02-04 |