Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Cd36'

177982

Institutional Source

Beutler Lab

Gene Symbol

Cd36

Ensembl Gene

ENSMUSG00000002944

Gene Name

CD36 molecule

Synonyms

FAT, Scarb3, fatty acid translocase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

F5770 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

17986688-18093799 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

ACTGTCTGT to ACTGT at 18025526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082367] [ENSMUST00000165232] [ENSMUST00000169095] [ENSMUST00000170051] [ENSMUST00000197574] [ENSMUST00000197890]

AlphaFold

Q08857

Predicted Effect

probably null
Transcript: ENSMUST00000082367

SMART Domains

Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944

Domain	Start	End	E-Value	Type
Pfam:CD36	14	463	2.5e-151	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165232

SMART Domains

Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944

Domain	Start	End	E-Value	Type
Pfam:CD36	12	465	2.5e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169095

SMART Domains

Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944

Domain	Start	End	E-Value	Type
Pfam:CD36	12	465	2.5e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170051

SMART Domains

Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944

Domain	Start	End	E-Value	Type
Pfam:CD36	12	465	2.5e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000197574

SMART Domains

Protein: ENSMUSP00000143107
Gene: ENSMUSG00000002944

Domain	Start	End	E-Value	Type
Pfam:CD36	12	142	1.8e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000197890

SMART Domains

Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944

Domain	Start	End	E-Value	Type
Pfam:CD36	12	465	2.5e-149	PFAM

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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 the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutant mice exhibit an immunodeficiency phenotype, are susceptible to S. aureus infection and develop ocular pterygium. Mice homozygous for disruptions in this gene display abnormal lipid homeostasis which affects energy utilization in the heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,789,380 (GRCm39)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Cd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Cd36	APN	5	17,992,700 (GRCm39)	missense	probably damaging	0.99
IGL01355:Cd36	APN	5	18,018,072 (GRCm39)	missense	possibly damaging	0.76
IGL02140:Cd36	APN	5	18,033,766 (GRCm39)	splice site	probably benign
IGL02385:Cd36	APN	5	18,019,717 (GRCm39)	missense	probably benign	0.31
IGL02626:Cd36	APN	5	18,002,126 (GRCm39)	nonsense	probably null
IGL02645:Cd36	APN	5	17,990,878 (GRCm39)	missense	probably benign	0.01
IGL03149:Cd36	APN	5	18,025,563 (GRCm39)	missense	probably benign	0.02
detached	UTSW	5	18,019,721 (GRCm39)	missense	probably damaging	1.00
oblivious	UTSW	5	18,079,964 (GRCm39)	intron	probably benign
E0370:Cd36	UTSW	5	17,990,747 (GRCm39)	nonsense	probably null
R0266:Cd36	UTSW	5	18,003,250 (GRCm39)	missense	probably benign	0.09
R1102:Cd36	UTSW	5	18,019,211 (GRCm39)	missense	possibly damaging	0.79
R1120:Cd36	UTSW	5	17,990,826 (GRCm39)	missense	possibly damaging	0.67
R1170:Cd36	UTSW	5	18,018,086 (GRCm39)	missense	probably damaging	1.00
R1551:Cd36	UTSW	5	18,002,120 (GRCm39)	missense	probably benign	0.00
R1918:Cd36	UTSW	5	18,002,034 (GRCm39)	nonsense	probably null
R4090:Cd36	UTSW	5	17,990,718 (GRCm39)	critical splice donor site	probably null
R4197:Cd36	UTSW	5	18,018,086 (GRCm39)	missense	probably damaging	1.00
R5602:Cd36	UTSW	5	18,019,790 (GRCm39)	missense	possibly damaging	0.94
R5647:Cd36	UTSW	5	18,019,763 (GRCm39)	missense	probably damaging	1.00
R5867:Cd36	UTSW	5	17,990,733 (GRCm39)	missense	probably benign	0.05
R6151:Cd36	UTSW	5	18,000,593 (GRCm39)	missense	probably damaging	1.00
R6400:Cd36	UTSW	5	18,019,721 (GRCm39)	missense	probably damaging	1.00
R6419:Cd36	UTSW	5	18,002,150 (GRCm39)	missense	probably benign
R7081:Cd36	UTSW	5	18,019,702 (GRCm39)	missense	probably damaging	1.00
R7195:Cd36	UTSW	5	18,019,187 (GRCm39)	missense	probably damaging	1.00
R7420:Cd36	UTSW	5	17,993,272 (GRCm39)	missense	probably benign	0.09
R8677:Cd36	UTSW	5	18,025,493 (GRCm39)	missense	probably damaging	1.00
R9460:Cd36	UTSW	5	18,000,608 (GRCm39)	missense	probably null	0.10
R9526:Cd36	UTSW	5	18,002,033 (GRCm39)	missense	probably damaging	0.99
R9747:Cd36	UTSW	5	18,019,732 (GRCm39)	missense	probably benign	0.19
V7580:Cd36	UTSW	5	18,025,526 (GRCm39)	frame shift	probably null
Z1088:Cd36	UTSW	5	18,000,573 (GRCm39)	splice site	probably null

Predicted Primers

Posted On

2014-05-07