Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Scarb1'

42459

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

038689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0491 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

125277087-125341094 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 125298731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086075] [ENSMUST00000111390] [ENSMUST00000127148] [ENSMUST00000137783]

AlphaFold

Q61009

Predicted Effect

probably benign
Transcript: ENSMUST00000086075

SMART Domains

Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111390

SMART Domains

Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123338

Predicted Effect

probably benign
Transcript: ENSMUST00000127148

SMART Domains

Protein: ENSMUSP00000122100
Gene: ENSMUSG00000037936

Domain	Start	End	E-Value	Type
Pfam:CD36	1	123	1.2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133624

Predicted Effect

probably benign
Transcript: ENSMUST00000137783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148373

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,182,243 (GRCm38)	S356T	probably damaging	Het
Abca13	T	C	11: 9,298,235 (GRCm38)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,430,107 (GRCm38)	D224G	probably benign	Het
Acsm1	A	G	7: 119,640,697 (GRCm38)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,776,630 (GRCm38)	D465G	probably damaging	Het
Akap9	A	T	5: 3,972,851 (GRCm38)		probably benign	Het
Alms1	A	G	6: 85,702,600 (GRCm38)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,719,241 (GRCm38)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,179,987 (GRCm38)		probably benign	Het
Atf6	A	G	1: 170,787,344 (GRCm38)		probably null	Het
Cacna1s	T	A	1: 136,089,008 (GRCm38)		probably benign	Het
Clcn1	T	C	6: 42,310,581 (GRCm38)	F740L	probably benign	Het
Clec12a	T	A	6: 129,364,053 (GRCm38)	D265E	probably benign	Het
Clic3	T	A	2: 25,457,785 (GRCm38)		probably benign	Het
Cntnap3	T	G	13: 64,762,045 (GRCm38)	T749P	probably benign	Het
Col11a2	T	A	17: 34,042,212 (GRCm38)	D45E	probably null	Het
Crxos	T	A	7: 15,898,535 (GRCm38)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,192,309 (GRCm38)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,371,327 (GRCm38)	N262K	possibly damaging	Het
Dpy19l2	T	C	9: 24,696,028 (GRCm38)	R46G	probably benign	Het
Dpysl2	A	T	14: 66,807,962 (GRCm38)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,527,423 (GRCm38)		probably benign	Het
Eppin	T	A	2: 164,589,412 (GRCm38)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,106,061 (GRCm38)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,435,742 (GRCm38)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,581,959 (GRCm38)	H586R	unknown	Het
Gm973	C	T	1: 59,558,234 (GRCm38)		probably benign	Het
Haus6	A	C	4: 86,602,846 (GRCm38)	V185G	possibly damaging	Het
Herc2	T	A	7: 56,122,366 (GRCm38)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,166,310 (GRCm38)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,276,895 (GRCm38)		probably benign	Het
Kbtbd2	G	A	6: 56,780,389 (GRCm38)	R121*	probably null	Het
Lgr4	C	T	2: 110,007,281 (GRCm38)		probably benign	Het
Lrrc55	T	C	2: 85,191,920 (GRCm38)	E309G	probably damaging	Het
Mertk	T	C	2: 128,793,107 (GRCm38)		probably null	Het
Micu3	A	G	8: 40,366,253 (GRCm38)		probably benign	Het
Mmp11	G	A	10: 75,926,758 (GRCm38)	A287V	probably benign	Het
Mpzl2	A	G	9: 45,042,741 (GRCm38)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,862,015 (GRCm38)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,755,698 (GRCm38)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,423,219 (GRCm38)	D1092E	probably benign	Het
Ncapd3	T	G	9: 27,057,883 (GRCm38)	V611G	probably damaging	Het
Ntpcr	C	T	8: 125,737,354 (GRCm38)	R73*	probably null	Het
Olfr1225	A	T	2: 89,170,360 (GRCm38)	V284E	probably benign	Het
Olfr1475	G	A	19: 13,479,493 (GRCm38)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,714,709 (GRCm38)	F88S	probably damaging	Het
Pkn3	A	T	2: 30,089,877 (GRCm38)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,394,776 (GRCm38)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,439,291 (GRCm38)	T408A	probably benign	Het
Prss41	T	C	17: 23,842,503 (GRCm38)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,579,921 (GRCm38)		probably benign	Het
Ptprq	A	T	10: 107,608,175 (GRCm38)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,992,222 (GRCm38)	D470G	probably damaging	Het
Slc25a54	G	A	3: 109,102,796 (GRCm38)	A204T	probably damaging	Het
Spink10	T	C	18: 62,659,965 (GRCm38)	C67R	probably damaging	Het
St5	T	A	7: 109,557,204 (GRCm38)	Q113L	probably benign	Het
Tmtc1	A	T	6: 148,412,640 (GRCm38)		probably null	Het
Tprkb	A	G	6: 85,924,464 (GRCm38)	D28G	probably benign	Het
Ttll13	A	G	7: 80,260,350 (GRCm38)	H747R	probably benign	Het
Usp24	A	G	4: 106,402,105 (GRCm38)	S1608G	probably benign	Het
Utp20	A	T	10: 88,760,912 (GRCm38)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,395,191 (GRCm38)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,228,390 (GRCm38)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,317,305 (GRCm38)	G298E	probably damaging	Het
Zfp738	T	G	13: 67,670,021 (GRCm38)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,465,202 (GRCm38)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,618,334 (GRCm38)	D80Y	probably damaging	Het

Other mutations in Scarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03355:Scarb1	APN	5	125,289,702 (GRCm38)	missense	probably benign	0.01
IGL03052:Scarb1	UTSW	5	125,294,099 (GRCm38)	missense	probably damaging	1.00
R0051:Scarb1	UTSW	5	125,281,100 (GRCm38)	splice site	probably null
R0317:Scarb1	UTSW	5	125,289,692 (GRCm38)	missense	probably damaging	0.99
R0455:Scarb1	UTSW	5	125,289,681 (GRCm38)	missense	probably damaging	0.96
R0655:Scarb1	UTSW	5	125,300,440 (GRCm38)	missense	probably damaging	1.00
R0676:Scarb1	UTSW	5	125,297,214 (GRCm38)	unclassified	probably benign
R2074:Scarb1	UTSW	5	125,294,143 (GRCm38)	missense	probably benign
R2267:Scarb1	UTSW	5	125,287,375 (GRCm38)	missense	possibly damaging	0.82
R3951:Scarb1	UTSW	5	125,287,411 (GRCm38)	missense	probably damaging	0.99
R4080:Scarb1	UTSW	5	125,277,795 (GRCm38)	missense	probably damaging	1.00
R4452:Scarb1	UTSW	5	125,300,345 (GRCm38)	missense	probably damaging	1.00
R4925:Scarb1	UTSW	5	125,297,299 (GRCm38)	missense	probably damaging	1.00
R5669:Scarb1	UTSW	5	125,300,387 (GRCm38)	missense	probably damaging	1.00
R5809:Scarb1	UTSW	5	125,304,222 (GRCm38)	missense	probably damaging	0.98
R5872:Scarb1	UTSW	5	125,304,277 (GRCm38)	missense	possibly damaging	0.60
R5883:Scarb1	UTSW	5	125,340,907 (GRCm38)	unclassified	probably benign
R6321:Scarb1	UTSW	5	125,304,331 (GRCm38)	missense	probably damaging	1.00
R6508:Scarb1	UTSW	5	125,304,325 (GRCm38)	missense	possibly damaging	0.49
R6618:Scarb1	UTSW	5	125,304,330 (GRCm38)	missense	probably damaging	0.96
R6931:Scarb1	UTSW	5	125,284,719 (GRCm38)	missense	probably damaging	1.00
R7058:Scarb1	UTSW	5	125,297,230 (GRCm38)	missense	probably damaging	1.00
R7099:Scarb1	UTSW	5	125,304,350 (GRCm38)	missense	probably damaging	0.98
R7146:Scarb1	UTSW	5	125,284,025 (GRCm38)	missense	probably benign
R7830:Scarb1	UTSW	5	125,287,383 (GRCm38)	missense	probably damaging	1.00
R7873:Scarb1	UTSW	5	125,294,039 (GRCm38)	missense	probably damaging	1.00
R8158:Scarb1	UTSW	5	125,303,137 (GRCm38)	missense	probably benign	0.01
R8467:Scarb1	UTSW	5	125,298,667 (GRCm38)	missense	probably damaging	0.99
R8500:Scarb1	UTSW	5	125,294,163 (GRCm38)	missense	probably damaging	1.00
R8814:Scarb1	UTSW	5	125,294,092 (GRCm38)	missense	probably benign	0.00
R9025:Scarb1	UTSW	5	125,304,350 (GRCm38)	missense	probably damaging	0.98
R9169:Scarb1	UTSW	5	125,294,082 (GRCm38)	missense	probably damaging	1.00
R9462:Scarb1	UTSW	5	125,340,827 (GRCm38)	missense	probably damaging	1.00
R9685:Scarb1	UTSW	5	125,294,130 (GRCm38)	missense	possibly damaging	0.49
R9699:Scarb1	UTSW	5	125,297,232 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGTTCTGGTGTAGTCCCCACA -3'
(R):5'- GCCCTTCTACTGAGCTTCTAGATCGT -3'

Sequencing Primer
(F):5'- CACCAATCGATGGGGACTG -3'
(R):5'- tgggagtatgaggcaggag -3'

Posted On

2013-05-23