Incidental Mutation 'IGL02626:Cd36'
ID 301094
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02626
Quality Score
Status
Chromosome 5
Chromosomal Location 17986688-18093799 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 18002126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 292 (R292*)
Ref Sequence ENSEMBL: ENSMUSP00000143061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082367] [ENSMUST00000165232] [ENSMUST00000169095] [ENSMUST00000170051] [ENSMUST00000197890]
AlphaFold Q08857
Predicted Effect probably null
Transcript: ENSMUST00000082367
AA Change: R292*
SMART Domains Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: R292*

DomainStartEndE-ValueType
Pfam:CD36 14 463 2.5e-151 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165232
AA Change: R292*
SMART Domains Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: R292*

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169095
AA Change: R292*
SMART Domains Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: R292*

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170051
AA Change: R292*
SMART Domains Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: R292*

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000197890
AA Change: R292*
SMART Domains Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: R292*

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,810 (GRCm39) K1236E probably damaging Het
Actl7a A T 4: 56,744,353 (GRCm39) E293D possibly damaging Het
Adamts2 T C 11: 50,667,082 (GRCm39) Y460H probably damaging Het
Aoc1 G A 6: 48,883,044 (GRCm39) V307I probably benign Het
Ar C T X: 97,358,492 (GRCm39) H756Y probably damaging Het
Atg3 C T 16: 45,004,048 (GRCm39) R224W probably benign Het
Atp5po G A 16: 91,483,201 (GRCm39) P47S probably damaging Het
Bicd1 A G 6: 149,311,054 (GRCm39) E43G probably damaging Het
Ccdc88c A G 12: 100,934,059 (GRCm39) probably benign Het
Cd33 A G 7: 43,179,736 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh23 T C 10: 60,227,580 (GRCm39) D1167G probably damaging Het
Cdk5rap1 A G 2: 154,207,880 (GRCm39) probably null Het
Chd6 A G 2: 160,881,270 (GRCm39) probably benign Het
Chd7 A T 4: 8,826,519 (GRCm39) Y961F probably damaging Het
Cpe T C 8: 65,145,829 (GRCm39) E52G probably benign Het
Cpne5 C T 17: 29,379,311 (GRCm39) G491S probably damaging Het
Csmd3 A T 15: 47,567,503 (GRCm39) probably benign Het
Ctbp2 T A 7: 132,600,940 (GRCm39) T608S probably benign Het
Cybb A G X: 9,335,439 (GRCm39) probably null Het
Daam2 T C 17: 49,797,282 (GRCm39) T168A possibly damaging Het
Dnah5 G T 15: 28,307,422 (GRCm39) V1717F possibly damaging Het
Dse G A 10: 34,029,158 (GRCm39) T644I probably damaging Het
Dtd2 A C 12: 52,051,708 (GRCm39) Y45* probably null Het
Fgfr1op2 T A 6: 146,491,509 (GRCm39) M124K probably benign Het
Flii T C 11: 60,610,685 (GRCm39) D537G probably benign Het
Fntb T A 12: 76,944,145 (GRCm39) I217N probably benign Het
Foxi1 A G 11: 34,155,860 (GRCm39) S257P probably benign Het
Fyn G A 10: 39,402,798 (GRCm39) R190H probably damaging Het
Gm28557 T A 13: 67,223,008 (GRCm39) T8S probably benign Het
Gramd1b T C 9: 40,209,306 (GRCm39) K873E probably damaging Het
Grb10 T C 11: 11,895,503 (GRCm39) T329A probably benign Het
Haus5 A G 7: 30,356,675 (GRCm39) L477P probably damaging Het
Hectd4 A T 5: 121,491,944 (GRCm39) E3761V possibly damaging Het
Ift172 T C 5: 31,421,840 (GRCm39) I930V probably benign Het
Itprid1 T A 6: 55,945,631 (GRCm39) V784D probably benign Het
Izumo2 A G 7: 44,358,560 (GRCm39) probably benign Het
Map4k4 A G 1: 40,053,257 (GRCm39) probably benign Het
Morc1 A G 16: 48,436,123 (GRCm39) S753G probably damaging Het
Mpzl2 C T 9: 44,955,590 (GRCm39) T167I probably damaging Het
Mta2 T A 19: 8,926,532 (GRCm39) I491N probably damaging Het
Myo18b A T 5: 113,025,951 (GRCm39) I33N unknown Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Or10ak13 T C 4: 118,639,531 (GRCm39) M84V probably damaging Het
Or4f58 A T 2: 111,851,458 (GRCm39) V247E probably damaging Het
Or5d47 T C 2: 87,804,068 (GRCm39) N314D probably benign Het
Or8d2b T C 9: 38,788,784 (GRCm39) L104S probably benign Het
Ralyl A T 3: 13,842,094 (GRCm39) M77L probably benign Het
Rap1gap T A 4: 137,454,364 (GRCm39) V649E probably benign Het
Rnf40 C A 7: 127,195,744 (GRCm39) Q663K probably damaging Het
Slc22a18 T C 7: 143,052,837 (GRCm39) L354P probably damaging Het
Slc9a8 T C 2: 167,309,597 (GRCm39) probably benign Het
Surf4 C T 2: 26,815,619 (GRCm39) probably null Het
T A T 17: 8,654,069 (GRCm39) N85Y probably damaging Het
Tanc1 A G 2: 59,630,216 (GRCm39) E732G probably damaging Het
Tas2r138 A G 6: 40,589,649 (GRCm39) V199A possibly damaging Het
Trim43b T C 9: 88,967,541 (GRCm39) Y365C possibly damaging Het
Ubd T C 17: 37,506,573 (GRCm39) L153P probably damaging Het
Xpnpep2 A C X: 47,215,786 (GRCm39) M513L probably benign Het
Zar1l C T 5: 150,441,210 (GRCm39) G139R probably damaging Het
Zc3hav1 T G 6: 38,309,926 (GRCm39) T299P probably damaging Het
Zfp236 C A 18: 82,676,120 (GRCm39) probably benign Het
Other mutations in Cd36
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
F5770:Cd36 UTSW 5 18,025,526 (GRCm39) frame shift 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
Posted On 2015-04-16