Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Olr1'

486623

Institutional Source

Beutler Lab

Gene Symbol

Olr1

Ensembl Gene

ENSMUSG00000030162

Gene Name

oxidized low density lipoprotein (lectin-like) receptor 1

Synonyms

LOX-1, Scare1, SR-EI

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129485244-129507165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129493541 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 221 (L221P)

Ref Sequence

ENSEMBL: ENSMUSP00000032265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032265] [ENSMUST00000182784] [ENSMUST00000183258]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032265
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: L221P

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: 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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Olr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03237:Olr1	APN	6	129502154	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTTGTGCCCATGAAAAG -3'
(R):5'- CCAATTGCACAAACTGTTGGAAGTAC -3'

Sequencing Primer
(F):5'- GATGGTTACTACGCTTCCCATGG -3'
(R):5'- GCACAAACTGTTGGAAGTACTTTGC -3'

Posted On

2017-08-16