Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Scarb1'

540015

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

045326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125277087-125341094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125284719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 107 (I107F)

Ref Sequence

ENSEMBL: ENSMUSP00000122100 (fasta)

Gene Model

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

AlphaFold

Q61009

Predicted Effect

probably damaging
Transcript: ENSMUST00000086075
AA Change: I406F

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

SMART Domains

Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: I406F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111390
AA Change: I406F

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

SMART Domains

Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: I406F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000127148
AA Change: I107F

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

SMART Domains

Protein: ENSMUSP00000122100
Gene: ENSMUSG00000037936
AA Change: I107F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,548 (GRCm38)	T172A	possibly damaging	Het
2310003L06Rik	T	A	5: 87,970,702 (GRCm38)	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,512,596 (GRCm38)	S6R	unknown	Het
Abca6	T	A	11: 110,244,328 (GRCm38)	L210F	probably benign	Het
Abcc4	T	C	14: 118,527,988 (GRCm38)	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,150,884 (GRCm38)	D811G	possibly damaging	Het
Akna	A	G	4: 63,387,102 (GRCm38)	S476P	probably benign	Het
Ankrd49	T	C	9: 14,782,826 (GRCm38)	N15S	probably benign	Het
Apcdd1	A	G	18: 62,933,908 (GRCm38)	D31G	probably damaging	Het
Aplp1	G	T	7: 30,443,200 (GRCm38)	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,531,218 (GRCm38)	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108 (GRCm38)		probably null	Het
Axl	T	C	7: 25,761,433 (GRCm38)	D717G	probably damaging	Het
Bub1	T	A	2: 127,801,382 (GRCm38)	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,282,234 (GRCm38)	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,539,921 (GRCm38)	C289S	probably damaging	Het
Coasy	A	G	11: 101,083,581 (GRCm38)	H191R	probably benign	Het
Cyp11a1	A	T	9: 58,025,120 (GRCm38)	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,156 (GRCm38)	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,444,781 (GRCm38)		probably null	Het
Dnah9	A	T	11: 66,117,626 (GRCm38)	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,529,011 (GRCm38)	Q505H	probably benign	Het
Fam135a	T	A	1: 24,085,487 (GRCm38)	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,438,434 (GRCm38)	S500P	possibly damaging	Het
Fat3	A	G	9: 15,959,942 (GRCm38)	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,970,677 (GRCm38)	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,942,985 (GRCm38)	I390V	probably benign	Het
Gemin4	A	G	11: 76,210,956 (GRCm38)	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,833,167 (GRCm38)	D647V	probably damaging	Het
Gm7534	A	T	4: 134,193,153 (GRCm38)	M567K	probably benign	Het
Gpr84	A	C	15: 103,309,014 (GRCm38)	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,331,432 (GRCm38)		probably benign	Het
Hspg2	G	T	4: 137,540,720 (GRCm38)	C2116F	probably damaging	Het
Icam4	T	A	9: 21,030,451 (GRCm38)	V249E	probably damaging	Het
Itga1	T	C	13: 115,001,563 (GRCm38)	N429D	probably benign	Het
Kcns1	T	C	2: 164,164,838 (GRCm38)	T402A	probably damaging	Het
Ky	T	A	9: 102,537,627 (GRCm38)	V246E	probably damaging	Het
March1	A	G	8: 66,468,492 (GRCm38)	T529A	probably benign	Het
Med18	C	G	4: 132,459,883 (GRCm38)	V102L	probably damaging	Het
Mlst8	T	C	17: 24,477,275 (GRCm38)	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,303,698 (GRCm38)	I470T	probably benign	Het
Muc1	C	T	3: 89,229,159 (GRCm38)		probably benign	Het
Mup8	G	A	4: 60,220,322 (GRCm38)	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,542,330 (GRCm38)	L341*	probably null	Het
Nacad	A	G	11: 6,601,877 (GRCm38)	F438S	probably benign	Het
Necap2	C	A	4: 141,078,212 (GRCm38)		probably null	Het
Nifk	T	C	1: 118,332,348 (GRCm38)	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,289,997 (GRCm38)	I73V	probably benign	Het
Olfr1179	G	A	2: 88,402,064 (GRCm38)	T290I	probably benign	Het
Olfr1186	T	A	2: 88,526,194 (GRCm38)	C204S	possibly damaging	Het
Olfr142	A	T	2: 90,252,777 (GRCm38)	C70*	probably null	Het
Olfr715	A	G	7: 107,128,901 (GRCm38)	L164P	probably damaging	Het
Oog3	C	T	4: 144,159,353 (GRCm38)	C225Y	probably benign	Het
Plagl2	C	A	2: 153,235,943 (GRCm38)	K39N	probably benign	Het
Plcg2	T	A	8: 117,557,319 (GRCm38)	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,211,786 (GRCm38)	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,829,016 (GRCm38)	T442S	probably benign	Het
Prr14l	G	A	5: 32,830,691 (GRCm38)	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,703,971 (GRCm38)	V63I	probably benign	Het
Psmc6	T	A	14: 45,343,725 (GRCm38)	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,155,075 (GRCm38)	T405A	probably benign	Het
Rbm33	G	A	5: 28,410,745 (GRCm38)	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Slc39a12	A	G	2: 14,389,375 (GRCm38)	S19G	probably benign	Het
Slc44a5	T	C	3: 154,258,506 (GRCm38)	V503A	probably benign	Het
Slc9a9	T	C	9: 94,670,086 (GRCm38)	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,490,701 (GRCm38)	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,352,151 (GRCm38)	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,882,597 (GRCm38)	F209L	probably benign	Het
Tmprss12	C	T	15: 100,285,268 (GRCm38)	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,417,073 (GRCm38)	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,793,639 (GRCm38)	M198K	probably benign	Het
Ttll8	A	G	15: 88,914,304 (GRCm38)	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,728,383 (GRCm38)	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,430,458 (GRCm38)	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,650,242 (GRCm38)	Q589K	probably benign	Het
Zbed5	T	A	5: 129,903,329 (GRCm38)	Y706*	probably null	Het
Zc3h10	A	G	10: 128,544,684 (GRCm38)	V268A	probably damaging	Het
Zfp442	C	T	2: 150,410,940 (GRCm38)		probably null	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
R0491:Scarb1	UTSW	5	125,298,731 (GRCm38)	unclassified	probably benign
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
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'- GGGGCCATTAACAAAACCTG -3'
(R):5'- CTGTACGTAGCGTTACAGGCTC -3'

Sequencing Primer
(F):5'- ATTCCAGTTCTAGGAGACCTGATGC -3'
(R):5'- GTAGCGTTACAGGCTCCCCTTTATC -3'

Posted On

2018-11-06