Mutagenetix > Incidental Mutations

Incidental Mutation 'R5669:Scarb1'

442502

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

043312-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125277087-125341094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125300387 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 194 (Y194H)

Ref Sequence

ENSEMBL: ENSMUSP00000107021 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086075
AA Change: Y194H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: Y194H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111390
AA Change: Y194H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: Y194H

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

probably benign
Transcript: ENSMUST00000137783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156532

Coding Region Coverage

1x: 99.3%
3x: 98.8%
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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Akap9	T	A	5: 4,050,540	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,610,920	I25T	probably damaging	Het
Astl	G	T	2: 127,347,279	R175L	probably damaging	Het
BC035947	A	T	1: 78,497,913	C661S	probably damaging	Het
Cd160	C	T	3: 96,808,898		probably benign	Het
Cdc42bpb	C	T	12: 111,302,013		probably null	Het
Cdip1	T	A	16: 4,768,815	I149F	probably damaging	Het
Cfap65	T	C	1: 74,924,968	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,925,998	I1256T	unknown	Het
Copb1	A	G	7: 114,237,585	V336A	probably damaging	Het
Ddx42	A	T	11: 106,241,819	D556V	probably damaging	Het
Dlk1	T	C	12: 109,460,038	V279A	probably benign	Het
Fbll1	T	C	11: 35,797,584	N284S	probably benign	Het
Fbxw21	A	T	9: 109,145,510	I314N	probably benign	Het
Foxa3	T	C	7: 19,014,251	T317A	probably benign	Het
Gm14139	A	G	2: 150,192,178	I140V	probably benign	Het
Gpr37	A	T	6: 25,669,352	C498S	probably benign	Het
Hapln3	G	T	7: 79,117,496		probably null	Het
Igkv4-54	A	G	6: 69,631,848	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,190,628	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,622,349	T248A	probably damaging	Het
Kcnv1	T	C	15: 45,114,252	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,111,038	H2058R	probably damaging	Het
Macf1	T	A	4: 123,476,225	E1581V	probably damaging	Het
Mga	A	G	2: 119,903,426	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,807,431	G335S	probably damaging	Het
Olfr1115	T	C	2: 87,252,441	V168A	probably benign	Het
Olfr58	T	C	9: 19,783,757	F208S	probably benign	Het
Pak7	G	A	2: 136,116,284	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,130,102	S595T	probably benign	Het
Pepd	T	C	7: 35,040,674	V324A	probably benign	Het
Pml	C	T	9: 58,247,063	D176N	probably benign	Het
Popdc3	T	A	10: 45,316,433	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,373,022	T481P	probably benign	Het
Pramef12	T	C	4: 144,395,843	I44V	probably benign	Het
Prlh	A	G	1: 90,953,120	T5A	probably benign	Het
Prom1	A	G	5: 44,012,943	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,504,738	L1897H	probably damaging	Het
Ret	T	C	6: 118,184,243	T91A	probably benign	Het
Retsat	A	G	6: 72,606,010	S176G	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf213	T	C	11: 119,458,785	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,596,704	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,147,867	D90G	probably damaging	Het
Scube2	C	T	7: 109,825,439	A556T	probably benign	Het
Serpinb1a	A	G	13: 32,845,316	L243P	probably damaging	Het
Slc39a4	A	C	15: 76,614,163	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,681,623	D893G	probably damaging	Het
Srgap1	C	A	10: 121,804,850	V681L	probably benign	Het
Tmprss6	A	T	15: 78,454,956	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,951,117	K719*	probably null	Het
Vmn1r62	T	A	7: 5,675,737	L139*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTGTGCCTCAAATCTTCTAAG -3'
(R):5'- CATGTCCTTGGCTTTCCAGG -3'

Sequencing Primer
(F):5'- TCGAACTGGATCAAGCCG -3'
(R):5'- GGGGGCTCGATATTGATGGAGAG -3'

Posted On

2016-11-09