Incidental Mutation 'PIT4618001:Olr1'
ID |
555695 |
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 # |
PIT4618001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
129462207-129484128 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 129476869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 132
(A132V)
|
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: A132V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032265 Gene: ENSMUSG00000030162 AA Change: A132V
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
|
SMART Domains |
Protein: ENSMUSP00000124660 Gene: ENSMUSG00000030162
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: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
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 |
ANU74:Olr1
|
UTSW |
6 |
129,477,032 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- ACCTTACGCCCATGAGAAGG -3'
(R):5'- AGCGAACCTTACTCAGCAG -3'
Sequencing Primer
(F):5'- AGCTTGAGCAATTCTGATGGTTAC -3'
(R):5'- GAACCTTACTCAGCAGGATCGTATC -3'
|
Posted On |
2019-06-07 |