Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Scarb1'

316808

Institutional Source

Beutler Lab

Gene Symbol

Scarb1

Ensembl Gene

ENSMUSG00000037936

Gene Name

scavenger receptor class B, member 1

Synonyms

Cd36l1, Srb1, Hdlq1, SRBI, D5Ertd460e, Chohd1, SR-BI, Cla-1, Chohd1, Hlb398

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125354151-125418158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 125354859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 491 (P491Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107021 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000111390
AA Change: P491Q

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

SMART Domains

Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: P491Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124582

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: ENSMUST00000198586

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Scarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03355:Scarb1	APN	5	125,366,766 (GRCm39)	missense	probably benign	0.01
IGL03052:Scarb1	UTSW	5	125,371,163 (GRCm39)	missense	probably damaging	1.00
R0051:Scarb1	UTSW	5	125,358,164 (GRCm39)	splice site	probably null
R0317:Scarb1	UTSW	5	125,366,756 (GRCm39)	missense	probably damaging	0.99
R0455:Scarb1	UTSW	5	125,366,745 (GRCm39)	missense	probably damaging	0.96
R0491:Scarb1	UTSW	5	125,375,795 (GRCm39)	unclassified	probably benign
R0655:Scarb1	UTSW	5	125,377,504 (GRCm39)	missense	probably damaging	1.00
R0676:Scarb1	UTSW	5	125,374,278 (GRCm39)	unclassified	probably benign
R2074:Scarb1	UTSW	5	125,371,207 (GRCm39)	missense	probably benign
R2267:Scarb1	UTSW	5	125,364,439 (GRCm39)	missense	possibly damaging	0.82
R3951:Scarb1	UTSW	5	125,364,475 (GRCm39)	missense	probably damaging	0.99
R4452:Scarb1	UTSW	5	125,377,409 (GRCm39)	missense	probably damaging	1.00
R4925:Scarb1	UTSW	5	125,374,363 (GRCm39)	missense	probably damaging	1.00
R5669:Scarb1	UTSW	5	125,377,451 (GRCm39)	missense	probably damaging	1.00
R5809:Scarb1	UTSW	5	125,381,286 (GRCm39)	missense	probably damaging	0.98
R5872:Scarb1	UTSW	5	125,381,341 (GRCm39)	missense	possibly damaging	0.60
R5883:Scarb1	UTSW	5	125,417,971 (GRCm39)	unclassified	probably benign
R6321:Scarb1	UTSW	5	125,381,395 (GRCm39)	missense	probably damaging	1.00
R6508:Scarb1	UTSW	5	125,381,389 (GRCm39)	missense	possibly damaging	0.49
R6618:Scarb1	UTSW	5	125,381,394 (GRCm39)	missense	probably damaging	0.96
R6931:Scarb1	UTSW	5	125,361,783 (GRCm39)	missense	probably damaging	1.00
R7058:Scarb1	UTSW	5	125,374,294 (GRCm39)	missense	probably damaging	1.00
R7099:Scarb1	UTSW	5	125,381,414 (GRCm39)	missense	probably damaging	0.98
R7146:Scarb1	UTSW	5	125,361,089 (GRCm39)	missense	probably benign
R7830:Scarb1	UTSW	5	125,364,447 (GRCm39)	missense	probably damaging	1.00
R7873:Scarb1	UTSW	5	125,371,103 (GRCm39)	missense	probably damaging	1.00
R8158:Scarb1	UTSW	5	125,380,201 (GRCm39)	missense	probably benign	0.01
R8467:Scarb1	UTSW	5	125,375,731 (GRCm39)	missense	probably damaging	0.99
R8500:Scarb1	UTSW	5	125,371,227 (GRCm39)	missense	probably damaging	1.00
R8814:Scarb1	UTSW	5	125,371,156 (GRCm39)	missense	probably benign	0.00
R9025:Scarb1	UTSW	5	125,381,414 (GRCm39)	missense	probably damaging	0.98
R9169:Scarb1	UTSW	5	125,371,146 (GRCm39)	missense	probably damaging	1.00
R9462:Scarb1	UTSW	5	125,417,891 (GRCm39)	missense	probably damaging	1.00
R9685:Scarb1	UTSW	5	125,371,194 (GRCm39)	missense	possibly damaging	0.49
R9699:Scarb1	UTSW	5	125,374,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACAGGCCATTTAGAAGAGC -3'
(R):5'- TCTCTGGGTTCATGGCAGAC -3'

Sequencing Primer
(F):5'- TTTAGAAGAGCACACCTGTGGCC -3'
(R):5'- TTCATGGCAGACAGGGCTG -3'

Posted On

2015-05-15