Mutagenetix > Incidental Mutations

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, Hlb398, Cla-1, SR-BI, D5Ertd460e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125277087-125341094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125304350 bp

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]

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: 64,770,788	A26T	probably benign	Het
Acly	T	C	11: 100,492,291		probably null	Het
Adam29	A	C	8: 55,871,404	L672V	probably benign	Het
Adgrf1	T	C	17: 43,310,602	S577P	probably benign	Het
Ankar	T	C	1: 72,643,293	K1371R	probably damaging	Het
Arid5b	T	C	10: 68,098,179	D631G	probably damaging	Het
Brpf3	T	C	17: 28,806,637	V228A	probably benign	Het
C3	T	C	17: 57,206,276	D1457G	probably benign	Het
Calr4	A	T	4: 109,242,229	N143I	probably benign	Het
Catsperd	T	G	17: 56,628,811		probably null	Het
Cobl	T	A	11: 12,296,540	H154L		Het
Cryzl2	G	A	1: 157,488,584		probably benign	Het
Dennd1c	A	G	17: 57,067,915		probably null	Het
Dnah8	A	T	17: 30,704,724	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,866,768	S218P	probably benign	Het
Fbxw27	G	T	9: 109,770,155	T398N	probably damaging	Het
Fhod3	A	G	18: 25,090,162	D855G	probably benign	Het
Flii	A	G	11: 60,720,655	V410A	probably benign	Het
Fsip2	C	A	2: 82,987,624	P4567Q	probably benign	Het
Fxyd1	T	G	7: 31,053,033	Q66H	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gramd3	C	T	18: 56,491,945	T370I	probably benign	Het
Kdr	A	G	5: 75,944,333	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,830,546	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,173,108	R92G	probably benign	Het
Map1a	T	A	2: 121,300,517	S605T	probably benign	Het
Megf8	A	T	7: 25,346,520	D1496V	probably damaging	Het
Mgam	T	C	6: 40,661,716	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Nav3	T	C	10: 109,703,334	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,645,438		probably null	Het
Ndst1	A	G	18: 60,695,500	F661L	possibly damaging	Het
Neu3	G	A	7: 99,813,820	T232M	possibly damaging	Het
Nf1	T	C	11: 79,570,330	S741P	probably benign	Het
Nr5a1	G	T	2: 38,694,136	L424M	probably damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr1301	A	T	2: 111,755,076	T276S	probably benign	Het
Olfr1426	A	G	19: 12,088,166	F209L	possibly damaging	Het
Olfr212	T	A	6: 116,516,760	*328R	probably null	Het
Olfr952	G	A	9: 39,426,303	T256I	probably benign	Het
Otud7a	A	G	7: 63,757,455	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,746	L237S	probably damaging	Het
Pias1	A	G	9: 62,881,145	M79T		Het
Prom2	T	C	2: 127,539,778	E206G	probably benign	Het
Sdad1	A	G	5: 92,293,973	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,834,905	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,243,497	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,629,573	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750	H53Q	probably damaging	Het
Spata22	T	C	11: 73,340,399	F160L	probably benign	Het
Stag1	G	A	9: 100,944,826	V949I	probably benign	Het
Syne1	T	C	10: 5,123,744	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,254,891	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,630,341	M226I	probably benign	Het
Tep1	T	C	14: 50,844,487		probably null	Het
Tigd2	C	A	6: 59,210,181	T11K	probably damaging	Het
Trappc9	A	G	15: 72,693,619	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,240,989	M455T	probably benign	Het
Usp42	A	T	5: 143,726,645	S95T	probably damaging	Het
Usp44	T	C	10: 93,850,187	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,756,393	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,672,541	I616N	probably damaging	Het
Zfp352	A	G	4: 90,224,880	K419R	probably benign	Het
Zfp595	T	A	13: 67,317,647	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,772,161	S301T	probably benign	Het
Zzef1	T	C	11: 72,872,649	V1374A	possibly 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
R5809:Scarb1	UTSW	5	125304222	missense	probably damaging	0.98
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
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

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