Incidental Mutation 'IGL03237:Olr1'
ID414090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olr1
Ensembl Gene ENSMUSG00000030162
Gene Nameoxidized low density lipoprotein (lectin-like) receptor 1
SynonymsLOX-1, Scare1, SR-EI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03237
Quality Score
Status
Chromosome6
Chromosomal Location129485244-129507165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 129502154 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Glycine at position 34 (W34G)
Ref Sequence ENSEMBL: ENSMUSP00000032265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032265] [ENSMUST00000162815] [ENSMUST00000182784] [ENSMUST00000183258]
Predicted Effect probably damaging
Transcript: ENSMUST00000032265
AA Change: W34G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: W34G

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: W34G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138588
Gene: ENSMUSG00000030162
AA Change: W34G

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Olr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Olr1 APN 6 129493523 missense probably benign 0.02
IGL01751:Olr1 APN 6 129488848 missense possibly damaging 0.62
IGL02308:Olr1 APN 6 129499897 missense possibly damaging 0.70
IGL03120:Olr1 APN 6 129488935 missense probably damaging 0.97
ANU74:Olr1 UTSW 6 129500069 missense possibly damaging 0.91
PIT4618001:Olr1 UTSW 6 129499906 missense probably damaging 0.99
R0112:Olr1 UTSW 6 129488906 missense possibly damaging 0.77
R1375:Olr1 UTSW 6 129507076 missense possibly damaging 0.94
R1650:Olr1 UTSW 6 129507089 missense probably benign 0.29
R1828:Olr1 UTSW 6 129488932 missense possibly damaging 0.94
R1971:Olr1 UTSW 6 129493535 missense probably benign 0.06
R2074:Olr1 UTSW 6 129502094 missense probably benign 0.23
R3110:Olr1 UTSW 6 129499918 missense possibly damaging 0.91
R3112:Olr1 UTSW 6 129499918 missense possibly damaging 0.91
R3735:Olr1 UTSW 6 129499875 unclassified probably benign
R3736:Olr1 UTSW 6 129499875 unclassified probably benign
R4200:Olr1 UTSW 6 129502105 missense probably damaging 0.98
R4780:Olr1 UTSW 6 129488876 missense probably damaging 0.99
R4801:Olr1 UTSW 6 129488090 missense possibly damaging 0.71
R4802:Olr1 UTSW 6 129488090 missense possibly damaging 0.71
R4856:Olr1 UTSW 6 129493596 nonsense probably null
R4929:Olr1 UTSW 6 129500081 missense probably damaging 1.00
R5148:Olr1 UTSW 6 129493609 missense probably benign 0.02
R5659:Olr1 UTSW 6 129500029 missense probably damaging 0.96
R6037:Olr1 UTSW 6 129493541 missense probably damaging 1.00
R6037:Olr1 UTSW 6 129493541 missense probably damaging 1.00
R6116:Olr1 UTSW 6 129499984 missense probably damaging 1.00
R6356:Olr1 UTSW 6 129493559 missense probably benign 0.22
R6676:Olr1 UTSW 6 129500077 splice site probably null
R7001:Olr1 UTSW 6 129488111 missense probably damaging 1.00
R7056:Olr1 UTSW 6 129488941 missense probably damaging 1.00
Posted On2016-08-02