Mutagenetix > Incidental Mutation

Incidental Mutation 'R1650:Olr1'

174175

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

039686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1650 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129462207-129484128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129484052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 7 (M7L)

Ref Sequence

ENSEMBL: ENSMUSP00000032265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032265] [ENSMUST00000162815] [ENSMUST00000182784] [ENSMUST00000183258]

AlphaFold

Q9EQ09

Predicted Effect

probably benign
Transcript: ENSMUST00000032265
AA Change: M7L

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032265
Gene: ENSMUSG00000030162
AA Change: M7L

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: ENSMUST00000162815
AA Change: M7L

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124660
Gene: ENSMUSG00000030162
AA Change: M7L

Domain	Start	End	E-Value	Type
Blast:CLECT	24	75	1e-8	BLAST
low complexity region	76	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182784
AA Change: M7L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000138588
Gene: ENSMUSG00000030162
AA Change: M7L

Domain	Start	End	E-Value	Type
CLECT	61	181	3.83e-21	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000183258
AA Change: M7L

SMART Domains

Protein: ENSMUSP00000138228
Gene: ENSMUSG00000030162
AA Change: M7L

Domain	Start	End	E-Value	Type
CLECT	27	147	3.83e-21	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.0%
20x: 83.4%

Validation Efficiency

99% (86/87)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	G	2: 103,532,747 (GRCm39)	V515G	probably damaging	Het
Ark2c	A	C	18: 77,550,113 (GRCm39)		probably null	Het
Arl5a	A	T	2: 52,302,117 (GRCm39)	I99N	probably damaging	Het
Atp8b1	A	G	18: 64,704,620 (GRCm39)		probably benign	Het
Bag4	T	A	8: 26,267,452 (GRCm39)	Q126L	probably damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cenpn	A	G	8: 117,661,498 (GRCm39)	D199G	probably damaging	Het
Cfhr3	A	G	1: 139,521,564 (GRCm39)		noncoding transcript	Het
Clca3a2	T	A	3: 144,797,973 (GRCm39)	H164L	probably damaging	Het
Col5a1	C	A	2: 27,812,171 (GRCm39)	S84R	unknown	Het
Ctsc	T	A	7: 87,930,634 (GRCm39)	L71*	probably null	Het
Cyp2c70	A	G	19: 40,153,921 (GRCm39)	Y223H	probably benign	Het
Dbt	A	G	3: 116,328,381 (GRCm39)		probably null	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dll4	T	C	2: 119,161,611 (GRCm39)	S398P	probably damaging	Het
Dyrk4	T	C	6: 126,876,792 (GRCm39)	K62E	probably benign	Het
Fgf22	A	T	10: 79,591,023 (GRCm39)	Y24F	probably damaging	Het
Ggt5	A	G	10: 75,440,595 (GRCm39)	R239G	probably benign	Het
Gm11360	C	T	13: 28,140,379 (GRCm39)	A81V	unknown	Het
Htr5b	T	A	1: 121,455,891 (GRCm39)	T10S	probably benign	Het
Igsf10	T	C	3: 59,233,583 (GRCm39)	R1717G	probably damaging	Het
Itsn2	T	A	12: 4,687,767 (GRCm39)	V556D	probably damaging	Het
Kdm3b	T	C	18: 34,942,168 (GRCm39)	V553A	possibly damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lca5l	T	C	16: 95,980,140 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,750,639 (GRCm39)	W171R	probably damaging	Het
Lrp6	T	C	6: 134,445,732 (GRCm39)	Y1027C	probably benign	Het
Macf1	A	T	4: 123,350,393 (GRCm39)	Y1702*	probably null	Het
Mon2	T	C	10: 122,831,682 (GRCm39)	I1675V	probably benign	Het
Mtcl1	T	A	17: 66,692,871 (GRCm39)	K486M	probably damaging	Het
Nek1	A	T	8: 61,489,110 (GRCm39)	H338L	probably benign	Het
Ola1	A	T	2: 72,987,238 (GRCm39)	D131E	possibly damaging	Het
Or1f12	T	C	13: 21,721,249 (GRCm39)	N294D	probably damaging	Het
Or4k36	C	T	2: 111,146,640 (GRCm39)	A272V	probably benign	Het
Or5t18	A	T	2: 86,637,091 (GRCm39)	M84K	possibly damaging	Het
Or5w10	C	A	2: 87,375,772 (GRCm39)	V39L	probably benign	Het
Or7g27	T	G	9: 19,249,943 (GRCm39)	F62L	possibly damaging	Het
Or9m2	C	T	2: 87,821,145 (GRCm39)	A230V	probably benign	Het
Pan2	G	A	10: 128,153,768 (GRCm39)	E980K	probably damaging	Het
Pgm1	C	A	4: 99,819,276 (GRCm39)	Q149K	probably benign	Het
Pgm1	A	G	4: 99,819,267 (GRCm39)	K146E	possibly damaging	Het
Phlpp2	T	C	8: 110,660,587 (GRCm39)		probably benign	Het
Plekhs1	G	T	19: 56,459,474 (GRCm39)	G75C	probably damaging	Het
Plin4	G	A	17: 56,411,931 (GRCm39)	T700I	probably damaging	Het
Podxl2	G	A	6: 88,826,901 (GRCm39)	P71L	probably benign	Het
Pot1a	A	T	6: 25,745,964 (GRCm39)	V579D	probably damaging	Het
Poteg	A	G	8: 27,953,813 (GRCm39)	D318G	probably benign	Het
Ppp4r3a	A	T	12: 101,010,878 (GRCm39)	D554E	probably damaging	Het
Proser3	G	A	7: 30,239,751 (GRCm39)	A451V	probably damaging	Het
Shld2	T	A	14: 33,981,574 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,211,366 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,358,300 (GRCm39)	C216F	possibly damaging	Het
Syne2	A	T	12: 75,951,033 (GRCm39)	K395*	probably null	Het
Trim28	G	A	7: 12,764,776 (GRCm39)	G831D	possibly damaging	Het
Tyw1	A	G	5: 130,317,752 (GRCm39)	I434V	possibly damaging	Het
Ubox5	G	A	2: 130,442,345 (GRCm39)	A114V	probably benign	Het
Ubqln3	C	T	7: 103,790,228 (GRCm39)	V621I	possibly damaging	Het
Unc79	A	G	12: 103,079,052 (GRCm39)	D1543G	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Wrnip1	C	A	13: 32,989,362 (GRCm39)	H283Q	probably benign	Het
Zan	A	T	5: 137,392,863 (GRCm39)		probably benign	Het
Zcchc10	A	T	11: 53,218,229 (GRCm39)	K1*	probably null	Het
Zfp592	T	A	7: 80,687,848 (GRCm39)	S925T	probably benign	Het

Other mutations in Olr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCCGTAGCATGGAGAACAGCTTATAC -3'
(R):5'- GAATGTGCTTCTTTGACTTCCAAACCC -3'

Sequencing Primer
(F):5'- CCTTCTAAATAAATGGTCTTGGTCTC -3'
(R):5'- ATAATTGTCGTGGTCAGCCC -3'

Posted On

2014-04-24