Incidental Mutation 'R3112:Olr1'
ID 263735
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 040585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3112 (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 129476881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 128 (N128S)
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: N128S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: N128S

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 unknown
Transcript: ENSMUST00000162815
AA Change: N94S
SMART Domains Protein: ENSMUSP00000124660
Gene: ENSMUSG00000030162
AA Change: N94S

DomainStartEndE-ValueType
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

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
Predicted Effect probably benign
Transcript: ENSMUST00000203564
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly damaging 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
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'- TATGCTTCCCCTGGGCTAGAAG -3'
(R):5'- GAACCTTACTCAGCAGGATCGTATC -3'
Posted On 2015-02-05