Incidental Mutation 'IGL02140:Cd36'
ID281522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd36
Ensembl Gene ENSMUSG00000002944
Gene NameCD36 molecule
Synonymsfatty acid translocase, FAT, Scarb3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL02140
Quality Score
Status
Chromosome5
Chromosomal Location17781690-17888801 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 17828768 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082367] [ENSMUST00000165232] [ENSMUST00000169095] [ENSMUST00000170051] [ENSMUST00000197574] [ENSMUST00000197890]
Predicted Effect probably benign
Transcript: ENSMUST00000082367
SMART Domains Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944

DomainStartEndE-ValueType
Pfam:CD36 14 463 2.5e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165232
SMART Domains Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169095
SMART Domains Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170051
SMART Domains Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197574
SMART Domains Protein: ENSMUSP00000143107
Gene: ENSMUSG00000002944

DomainStartEndE-ValueType
Pfam:CD36 12 142 1.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197890
SMART Domains Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Coding Region Coverage
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
B3gat1 A G 9: 26,757,747 K325E possibly damaging Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Defa27 A T 8: 21,315,658 K13* probably null Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Nup37 A C 10: 88,158,929 K118T probably benign Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 D178G probably benign Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Pkp3 T G 7: 141,089,336 L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Timd4 T A 11: 46,820,014 S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in Cd36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Cd36 APN 5 17787702 missense probably damaging 0.99
IGL01355:Cd36 APN 5 17813074 missense possibly damaging 0.76
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
R1170:Cd36 UTSW 5 17813088 missense probably damaging 1.00
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
Posted On2015-04-16