Incidental Mutation 'R4200:Olr1'
ID 318718
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 041030-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4200 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129462207-129484128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129479068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 50 (V50A)
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: V50A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: V50A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:CLECT 24 75 1e-8 BLAST
low complexity region 76 97 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182784
AA Change: V50A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138588
Gene: ENSMUSG00000030162
AA Change: V50A

DomainStartEndE-ValueType
CLECT 61 181 3.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183258
SMART Domains Protein: ENSMUSP00000138228
Gene: ENSMUSG00000030162

DomainStartEndE-ValueType
CLECT 27 147 3.83e-21 SMART
Meta Mutation Damage Score 0.1883 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (40/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,955 (GRCm39) Y218N probably damaging Het
Aox3 A G 1: 58,227,537 (GRCm39) E1214G probably damaging Het
Arhgap31 G A 16: 38,444,275 (GRCm39) A194V probably damaging Het
Asxl1 C A 2: 153,242,026 (GRCm39) L859I possibly damaging Het
C7 A G 15: 5,019,791 (GRCm39) probably null Het
Col6a3 C A 1: 90,729,105 (GRCm39) V1279L probably benign Het
Dnah3 C T 7: 119,522,061 (GRCm39) G4033D probably damaging Het
Etl4 C A 2: 20,786,694 (GRCm39) H481Q probably damaging Het
Foxg1 T A 12: 49,432,082 (GRCm39) S272T possibly damaging Het
Gm3336 A T 8: 71,173,261 (GRCm39) D91V probably benign Het
Hnf4g T G 3: 3,716,344 (GRCm39) V256G possibly damaging Het
Hyou1 G A 9: 44,300,156 (GRCm39) R815H probably damaging Het
Ifi203 A C 1: 173,751,681 (GRCm39) I380S probably damaging Het
Map2 C T 1: 66,464,457 (GRCm39) R128C probably damaging Het
Mboat7 C A 7: 3,688,752 (GRCm39) A259S possibly damaging Het
Mroh8 C T 2: 157,083,730 (GRCm39) V381M probably benign Het
Muc5b T A 7: 141,412,662 (GRCm39) C1869* probably null Het
Nfatc4 C T 14: 56,069,489 (GRCm39) R672W probably damaging Het
Nup210l T C 3: 90,027,218 (GRCm39) I200T probably damaging Het
Or1i2 A T 10: 78,447,901 (GRCm39) D191E possibly damaging Het
Or51h7 A G 7: 102,591,004 (GRCm39) F260S probably damaging Het
Pcdhgb5 A G 18: 37,865,035 (GRCm39) I277V possibly damaging Het
Pknox1 C A 17: 31,818,584 (GRCm39) N272K probably benign Het
Psg23 T C 7: 18,345,990 (GRCm39) D235G probably damaging Het
Slc1a1 A G 19: 28,878,852 (GRCm39) K197R probably benign Het
Tgm2 C A 2: 157,974,410 (GRCm39) R207L probably benign Het
Trim29 G T 9: 43,222,677 (GRCm39) E169* probably null Het
Ttc24 T C 3: 87,981,824 (GRCm39) T81A probably benign Het
Ttll1 A T 15: 83,376,778 (GRCm39) I315N probably damaging Het
Ttll12 T C 15: 83,461,214 (GRCm39) N602D probably damaging Het
Vmn1r18 A T 6: 57,367,101 (GRCm39) V151E probably benign Het
Vmn2r100 T A 17: 19,742,797 (GRCm39) D390E probably benign Het
Zfp26 T C 9: 20,348,012 (GRCm39) T851A probably benign Het
Zfp58 T G 13: 67,639,440 (GRCm39) R350S probably benign Het
Other mutations in Olr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCTCCTCCATGAAACATGAAG -3'
(R):5'- TCAGCACAGTGGGATTGAG -3'

Sequencing Primer
(F):5'- GCATTCTGCTGTTAGTAGTCTCC -3'
(R):5'- ACAGTGGGATTGAGGCCCC -3'
Posted On 2015-06-10