Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00529:Cd36'

6483

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 #

IGL00529

Quality Score

Status

Chromosome

Chromosomal Location

17986688-18093799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17992700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 413 (I413T)

Ref Sequence

ENSEMBL: ENSMUSP00000143061 (fasta)

Gene Model

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

AlphaFold

Q08857

Predicted Effect

probably damaging
Transcript: ENSMUST00000082367
AA Change: I413T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: I413T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165232
AA Change: I413T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: I413T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169095
AA Change: I413T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: I413T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170051
AA Change: I413T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: I413T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197890
AA Change: I413T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: I413T

Domain	Start	End	E-Value	Type
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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,797 (GRCm39)		probably benign	Het
Fancm	A	G	12: 65,177,191 (GRCm39)		probably benign	Het
Golim4	A	T	3: 75,793,618 (GRCm39)	N599K	probably damaging	Het
Herc2	T	C	7: 55,807,501 (GRCm39)	V2530A	probably benign	Het
Inpp5k	A	G	11: 75,522,030 (GRCm39)		probably benign	Het
Nt5c	A	T	11: 115,382,151 (GRCm39)	L76*	probably null	Het
Slc25a4	T	C	8: 46,662,346 (GRCm39)	D104G	probably damaging	Het
Smchd1	A	G	17: 71,701,794 (GRCm39)	V1066A	probably benign	Het
Snapc1	A	G	12: 74,011,429 (GRCm39)	T32A	probably benign	Het
Usp32	G	A	11: 84,885,252 (GRCm39)	A1265V	probably damaging	Het

Other mutations in Cd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20