Incidental Mutation 'IGL01355:Cd36'
ID 75490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd36
Ensembl Gene ENSMUSG00000002944
Gene Name CD36 molecule
Synonyms fatty acid translocase, FAT, Scarb3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL01355
Quality Score
Status
Chromosome 5
Chromosomal Location 17781690-17888801 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17813074 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 214 (V214I)
Ref Sequence ENSEMBL: ENSMUSP00000143061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082367] [ENSMUST00000165232] [ENSMUST00000169095] [ENSMUST00000170051] [ENSMUST00000197574] [ENSMUST00000197890]
AlphaFold Q08857
Predicted Effect possibly damaging
Transcript: ENSMUST00000082367
AA Change: V214I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: V214I

DomainStartEndE-ValueType
Pfam:CD36 14 463 2.5e-151 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165232
AA Change: V214I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: V214I

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169095
AA Change: V214I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: V214I

DomainStartEndE-ValueType
Pfam:CD36 12 465 2.5e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170051
AA Change: V214I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: V214I

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 possibly damaging
Transcript: ENSMUST00000197890
AA Change: V214I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: V214I

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,386,481 V290I probably damaging Het
Ankrd12 A G 17: 65,970,340 probably benign Het
Anxa4 A T 6: 86,752,205 I140N probably damaging Het
Asap2 A G 12: 21,218,086 probably benign Het
Col24a1 T C 3: 145,314,876 L336S probably benign Het
Dcc C T 18: 71,809,114 V311I probably benign Het
Gpr146 A T 5: 139,378,904 probably benign Het
Irf1 T C 11: 53,774,361 V188A probably benign Het
Limk1 G A 5: 134,657,900 probably benign Het
Mcidas T C 13: 112,999,069 F342S probably damaging Het
Mctp1 A G 13: 76,384,955 T141A probably benign Het
Mnd1 C A 3: 84,116,477 A101S probably benign Het
Nsun7 T C 5: 66,294,868 S466P probably damaging Het
Olfr1279 T A 2: 111,307,093 I296K probably benign Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr617 A G 7: 103,584,373 E117G probably damaging Het
Pik3c2g G T 6: 139,852,857 G371V probably damaging Het
Sdad1 A G 5: 92,302,679 V199A probably damaging Het
Spg11 C T 2: 122,113,156 V172I probably benign Het
Tas2r108 A G 6: 40,493,751 T54A possibly damaging Het
Tmem121b A G 6: 120,492,466 L430P probably damaging Het
Traf3ip1 A G 1: 91,518,297 D384G probably damaging Het
Trank1 A G 9: 111,365,520 T871A possibly damaging Het
Vegfa T C 17: 46,025,421 M258V possibly damaging Het
Zbtb49 A G 5: 38,210,616 probably null Het
Other mutations in Cd36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Cd36 APN 5 17787702 missense probably damaging 0.99
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
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
R8677:Cd36 UTSW 5 17820495 missense probably damaging 1.00
R9460:Cd36 UTSW 5 17795610 missense probably null 0.10
R9526:Cd36 UTSW 5 17797035 missense probably damaging 0.99
R9747:Cd36 UTSW 5 17814734 missense probably benign 0.19
V7580:Cd36 UTSW 5 17820528 frame shift probably null
Z1088:Cd36 UTSW 5 17795575 splice site probably null
Posted On 2013-10-07