Incidental Mutation 'IGL01751:Olr1'
ID153127
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 #IGL01751
Quality Score
Status
Chromosome6
Chromosomal Location129485244-129507165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129488848 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 65 (N65S)
Ref Sequence ENSEMBL: ENSMUSP00000138228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032265] [ENSMUST00000182784] [ENSMUST00000183258]
Predicted Effect probably benign
Transcript: ENSMUST00000032265
AA Change: N273S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: N273S

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: ENSMUST00000182784
AA Change: N99S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138588
Gene: ENSMUSG00000030162
AA Change: N99S

DomainStartEndE-ValueType
CLECT 61 181 3.83e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183258
AA Change: N65S

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138228
Gene: ENSMUSG00000030162
AA Change: N65S

DomainStartEndE-ValueType
CLECT 27 147 3.83e-21 SMART
Predicted Effect unknown
Transcript: ENSMUST00000203564
AA Change: N61S
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,930,588 H174L possibly damaging Het
1700018F24Rik A G 5: 145,043,171 probably null Het
Auts2 G T 5: 131,472,360 Q72K probably damaging Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Ccdc7b A T 8: 129,136,568 probably benign Het
Frem3 A G 8: 80,615,743 E1555G probably benign Het
Gm1966 T A 7: 106,602,309 N576I possibly damaging Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm5828 A G 1: 16,769,984 noncoding transcript Het
Gm6605 T C 7: 38,448,206 noncoding transcript Het
Hps3 T C 3: 20,010,966 D638G probably damaging Het
Igdcc4 A T 9: 65,131,732 N887I probably damaging Het
Itpkc G A 7: 27,213,066 probably benign Het
Mfge8 A G 7: 79,136,655 probably null Het
Mrc2 G T 11: 105,325,734 L116F probably benign Het
Necab1 T C 4: 14,978,171 D226G probably damaging Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Obp2b G T 2: 25,737,748 V59L possibly damaging Het
Olfr1173 A T 2: 88,274,633 C139S possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr292 A T 7: 86,694,789 Q111L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Scn3a T A 2: 65,461,252 M1717L possibly damaging Het
Smg7 T C 1: 152,844,061 D903G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttll9 A T 2: 152,983,105 N68I probably damaging Het
Ttn A G 2: 76,737,599 V25904A possibly damaging Het
Uaca G A 9: 60,869,857 V507M probably damaging Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Other mutations in Olr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Olr1 APN 6 129493523 missense probably benign 0.02
IGL02308:Olr1 APN 6 129499897 missense possibly damaging 0.70
IGL03120:Olr1 APN 6 129488935 missense probably damaging 0.97
IGL03237:Olr1 APN 6 129502154 missense probably damaging 1.00
ANU74:Olr1 UTSW 6 129500069 missense possibly damaging 0.91
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 unclassified probably null
Posted On2014-02-04