Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Scarb1'

550694

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

045191-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125354151-125418158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125381414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 43 (N43K)

Ref Sequence

ENSEMBL: ENSMUSP00000083242 (fasta)

Gene Model

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

AlphaFold

Q61009

PDB Structure

Molecular analysis of the interaction of the HDL-receptor SR-BI with the PDZ3 domain of its adaptor protein PDZK1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000086075
AA Change: N43K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: N43K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111390
AA Change: N43K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: N43K

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

Predicted Effect

unknown
Transcript: ENSMUST00000137783
AA Change: C32S

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly damaging	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
R4080:Scarb1	UTSW	5	125,354,859 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCAAAACTCAGCATGGCAG -3'
(R):5'- AAGACACGCCTCTTCCTCCG -3'

Sequencing Primer
(F):5'- TCAGCATGGCAGAACACC -3'
(R):5'- GTTCTCCAACTAAAGGCTAAGCTG -3'

Posted On

2019-05-15