Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Scarb1'

448904

Institutional Source

Beutler Lab

Gene Symbol

Scarb1

Ensembl Gene

ENSMUSG00000037936

Gene Name

scavenger receptor class B, member 1

Synonyms

Cd36l1, Srb1, Hdlq1, SRBI, Hlb398, Cla-1, SR-BI, D5Ertd460e

MMRRC Submission

043394-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125277087-125341094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125304222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000107021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086075] [ENSMUST00000111390] [ENSMUST00000137783]

AlphaFold

Q61009

Predicted Effect

probably damaging
Transcript: ENSMUST00000086075
AA Change: V86A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:CD36	16	463	6.4e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111390
AA Change: V86A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:CD36	14	465	4.7e-158	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133624

Predicted Effect

silent
Transcript: ENSMUST00000137783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156532

Meta Mutation Damage Score

0.6604

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Targeted mutations result in abnormal lipoprotein metablolism and, for one allele, reversible female infertility. An ENU mutant shows increased cholesterol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,708,885	R460G	probably damaging	Het
A230072I06Rik	A	G	8: 12,279,556	S4G	unknown	Het
AA623943	T	C	11: 94,813,002		noncoding transcript	Het
Abca13	T	A	11: 9,293,692	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,909,474	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,870,257	V411A	probably benign	Het
Akp3	G	A	1: 87,126,548	R269H	probably benign	Het
Alox15	C	A	11: 70,350,882	G58W	probably damaging	Het
Ankle2	A	G	5: 110,237,990	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,743,354	I289L	probably benign	Het
Atp13a4	T	A	16: 29,433,987	T714S	possibly damaging	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Blm	A	T	7: 80,464,844	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,504,547	V770I	probably benign	Het
Ccdc148	T	A	2: 58,823,645	H498L	probably damaging	Het
Cdh26	T	A	2: 178,460,126	Y179*	probably null	Het
Cela2a	T	A	4: 141,825,553	T38S	probably benign	Het
Cep350	A	T	1: 155,933,341	N496K	probably damaging	Het
Cep89	A	G	7: 35,417,726	Y251C	probably damaging	Het
Cluh	T	C	11: 74,661,700	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,872,801	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,377	S705P	probably damaging	Het
D730048I06Rik	C	T	9: 35,789,001	C96Y	probably damaging	Het
Dock2	T	G	11: 34,262,445	D1232A	probably benign	Het
Donson	T	C	16: 91,687,850	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,433,554	L50P	probably benign	Het
Gm10300	C	T	4: 132,075,147		probably benign	Het
Gm8369	A	G	19: 11,504,884		probably benign	Het
Gm8674	T	A	13: 49,901,888		noncoding transcript	Het
Hepacam	T	A	9: 37,384,805	S417R	possibly damaging	Het
Hibch	T	A	1: 52,853,700	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,649,607	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,570,649		probably benign	Het
Hunk	C	A	16: 90,475,903	T365K	probably damaging	Het
Il12a	A	T	3: 68,695,262		probably benign	Het
Ints13	A	G	6: 146,576,349	V34A	probably benign	Het
Intu	A	C	3: 40,679,590	M418L	probably damaging	Het
Klra9	A	G	6: 130,179,073	S240P	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ndrg1	A	G	15: 66,930,850		probably benign	Het
Olfr181	T	C	16: 58,926,497	T25A	probably benign	Het
Olfr739	T	C	14: 50,425,448	*310Q	probably null	Het
Pax7	A	G	4: 139,830,371	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,093,808	T54S	probably benign	Het
Pex19	T	C	1: 172,130,739	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,519,707	I1121V	probably benign	Het
Pklr	A	T	3: 89,141,784	I146F	probably benign	Het
Plcb1	T	C	2: 135,262,244	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,696,001	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,078,687	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,167,571	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,257,247	I72V	probably damaging	Het
Ptpru	C	T	4: 131,785,756	R880Q	probably benign	Het
Rrp36	T	C	17: 46,668,006	K209E	probably damaging	Het
Sh2d7	A	C	9: 54,539,576	S37R	probably benign	Het
Slc13a2	A	T	11: 78,397,821	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,591,137	T117A	probably benign	Het
Smok2a	A	G	17: 13,226,978	R481G	possibly damaging	Het
Smr2	G	A	5: 88,108,840	A126T	probably benign	Het
Sspo	G	T	6: 48,460,045	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524	S909P	possibly damaging	Het
Tchh	A	T	3: 93,445,573	K773N	unknown	Het
Tmem156	T	C	5: 65,075,607	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,115,654	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,511,579	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,818,082	A1436T	probably benign	Het
Ubr3	A	G	2: 69,965,511	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,857,882		probably benign	Het
Wdr27	A	T	17: 14,883,669	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,305,876	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481	V119M	probably damaging	Het
Zmat5	A	G	11: 4,722,431	D16G	probably damaging	Het

Other mutations in Scarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03355:Scarb1	APN	5	125289702	missense	probably benign	0.01
IGL03052:Scarb1	UTSW	5	125294099	missense	probably damaging	1.00
R0051:Scarb1	UTSW	5	125281100	splice site	probably null
R0317:Scarb1	UTSW	5	125289692	missense	probably damaging	0.99
R0455:Scarb1	UTSW	5	125289681	missense	probably damaging	0.96
R0491:Scarb1	UTSW	5	125298731	unclassified	probably benign
R0655:Scarb1	UTSW	5	125300440	missense	probably damaging	1.00
R0676:Scarb1	UTSW	5	125297214	unclassified	probably benign
R2074:Scarb1	UTSW	5	125294143	missense	probably benign
R2267:Scarb1	UTSW	5	125287375	missense	possibly damaging	0.82
R3951:Scarb1	UTSW	5	125287411	missense	probably damaging	0.99
R4080:Scarb1	UTSW	5	125277795	missense	probably damaging	1.00
R4452:Scarb1	UTSW	5	125300345	missense	probably damaging	1.00
R4925:Scarb1	UTSW	5	125297299	missense	probably damaging	1.00
R5669:Scarb1	UTSW	5	125300387	missense	probably damaging	1.00
R5872:Scarb1	UTSW	5	125304277	missense	possibly damaging	0.60
R5883:Scarb1	UTSW	5	125340907	unclassified	probably benign
R6321:Scarb1	UTSW	5	125304331	missense	probably damaging	1.00
R6508:Scarb1	UTSW	5	125304325	missense	possibly damaging	0.49
R6618:Scarb1	UTSW	5	125304330	missense	probably damaging	0.96
R6931:Scarb1	UTSW	5	125284719	missense	probably damaging	1.00
R7058:Scarb1	UTSW	5	125297230	missense	probably damaging	1.00
R7099:Scarb1	UTSW	5	125304350	missense	probably damaging	0.98
R7146:Scarb1	UTSW	5	125284025	missense	probably benign
R7830:Scarb1	UTSW	5	125287383	missense	probably damaging	1.00
R7873:Scarb1	UTSW	5	125294039	missense	probably damaging	1.00
R8158:Scarb1	UTSW	5	125303137	missense	probably benign	0.01
R8467:Scarb1	UTSW	5	125298667	missense	probably damaging	0.99
R8500:Scarb1	UTSW	5	125294163	missense	probably damaging	1.00
R8814:Scarb1	UTSW	5	125294092	missense	probably benign	0.00
R9025:Scarb1	UTSW	5	125304350	missense	probably damaging	0.98
R9169:Scarb1	UTSW	5	125294082	missense	probably damaging	1.00
R9462:Scarb1	UTSW	5	125340827	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGACTGTCAGCCACTGTG -3'
(R):5'- CAAGTCTCAGGCAGCTGTTG -3'

Sequencing Primer
(F):5'- CCGGCTTCTCTGTGTGGC -3'
(R):5'- CTGTTGCAGAGCCGTAAAGTG -3'

Posted On

2016-12-15