Mutagenetix > Incidental Mutations

Incidental Mutation 'R1170:Cd36'

99290

Institutional Source

Beutler Lab

Gene Symbol

Cd36

Ensembl Gene

ENSMUSG00000002944

Gene Name

CD36 molecule

Synonyms

fatty acid translocase, FAT, Scarb3

MMRRC Submission

039243-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17781690-17888801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17813088 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 209 (D209V)

Ref Sequence

ENSEMBL: ENSMUSP00000143061 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082367
AA Change: D209V

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

SMART Domains

Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: D209V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165232
AA Change: D209V

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

SMART Domains

Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: D209V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169095
AA Change: D209V

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

SMART Domains

Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: D209V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170051
AA Change: D209V

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

SMART Domains

Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: D209V

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

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000197890
AA Change: D209V

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

SMART Domains

Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: D209V

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

Meta Mutation Damage Score

0.8162

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	Het

Other mutations in Cd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Cd36	APN	5	17787702	missense	probably damaging	0.99
IGL01355:Cd36	APN	5	17813074	missense	possibly damaging	0.76
IGL02140:Cd36	APN	5	17828768	splice site	probably benign
IGL02385:Cd36	APN	5	17814719	missense	probably benign	0.31
IGL02626:Cd36	APN	5	17797128	nonsense	probably null
IGL02645:Cd36	APN	5	17785880	missense	probably benign	0.01
IGL03149:Cd36	APN	5	17820565	missense	probably benign	0.02
detached	UTSW	5	17814723	missense	probably damaging	1.00
oblivious	UTSW	5	17874966	intron	probably benign
E0370:Cd36	UTSW	5	17785749	nonsense	probably null
F5770:Cd36	UTSW	5	17820528	frame shift	probably null
R0266:Cd36	UTSW	5	17798252	missense	probably benign	0.09
R1102:Cd36	UTSW	5	17814213	missense	possibly damaging	0.79
R1120:Cd36	UTSW	5	17785828	missense	possibly damaging	0.67
R1551:Cd36	UTSW	5	17797122	missense	probably benign	0.00
R1918:Cd36	UTSW	5	17797036	nonsense	probably null
R4090:Cd36	UTSW	5	17785720	critical splice donor site	probably null
R4197:Cd36	UTSW	5	17813088	missense	probably damaging	1.00
R5602:Cd36	UTSW	5	17814792	missense	possibly damaging	0.94
R5647:Cd36	UTSW	5	17814765	missense	probably damaging	1.00
R5867:Cd36	UTSW	5	17785735	missense	probably benign	0.05
R6151:Cd36	UTSW	5	17795595	missense	probably damaging	1.00
R6400:Cd36	UTSW	5	17814723	missense	probably damaging	1.00
R6419:Cd36	UTSW	5	17797152	missense	probably benign
R7081:Cd36	UTSW	5	17814704	missense	probably damaging	1.00
R7195:Cd36	UTSW	5	17814189	missense	probably damaging	1.00
R7420:Cd36	UTSW	5	17788274	missense	probably benign	0.09
V7580:Cd36	UTSW	5	17820528	frame shift	probably null
Z1088:Cd36	UTSW	5	17795575	splice site	probably null

Predicted Primers

Posted On

2014-01-15