Mutagenetix > Incidental Mutation

Incidental Mutation 'R7081:Cd36'

549515

Institutional Source

Beutler Lab

Gene Symbol

Cd36

Ensembl Gene

ENSMUSG00000002944

Gene Name

CD36 molecule

Synonyms

FAT, Scarb3, fatty acid translocase

MMRRC Submission

045175-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R7081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17986688-18093799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18019702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 133 (D133G)

Ref Sequence

ENSEMBL: ENSMUSP00000080974 (fasta)

Gene Model

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

AlphaFold

Q08857

Predicted Effect

probably damaging
Transcript: ENSMUST00000082367
AA Change: D133G

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

SMART Domains

Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: D133G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165232
AA Change: D133G

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

SMART Domains

Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: D133G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169095
AA Change: D133G

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

SMART Domains

Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: D133G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170051
AA Change: D133G

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

SMART Domains

Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: D133G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197574
AA Change: D133G

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

SMART Domains

Protein: ENSMUSP00000143107
Gene: ENSMUSG00000002944
AA Change: D133G

Domain	Start	End	E-Value	Type
Pfam:CD36	12	142	1.8e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197890
AA Change: D133G

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

SMART Domains

Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: D133G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,361,951 (GRCm39)	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,984,263 (GRCm39)	N664K	probably benign	Het
Adh7	A	G	3: 137,934,606 (GRCm39)	D343G	probably benign	Het
Als2cl	G	A	9: 110,723,650 (GRCm39)	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,786,644 (GRCm39)	I334R	probably damaging	Het
Ankrd45	A	G	1: 160,978,863 (GRCm39)	N101D	probably benign	Het
Arhgef10	C	T	8: 15,047,547 (GRCm39)	Q1137*	probably null	Het
Asap3	T	A	4: 135,968,881 (GRCm39)		probably null	Het
Bmp2k	T	C	5: 97,212,820 (GRCm39)	S568P	unknown	Het
C4b	A	C	17: 34,954,417 (GRCm39)	F917L	probably benign	Het
Cacna1e	A	T	1: 154,576,129 (GRCm39)	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,264,146 (GRCm39)	I543F	probably benign	Het
Chd4	T	C	6: 125,106,948 (GRCm39)	V1911A	unknown	Het
Cplx4	A	T	18: 66,100,538 (GRCm39)		probably null	Het
Cyp1a2	A	T	9: 57,586,272 (GRCm39)	D415E	possibly damaging	Het
Cyp3a57	T	C	5: 145,318,183 (GRCm39)	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,601,025 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,671,285 (GRCm39)	I35F	probably damaging	Het
Efna4	A	T	3: 89,241,601 (GRCm39)	L206Q	unknown	Het
Eif2a	T	C	3: 58,449,139 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,063,801 (GRCm39)	F612L	probably damaging	Het
Fbxw21	A	G	9: 108,990,990 (GRCm39)	L23P	probably damaging	Het
Fcamr	A	T	1: 130,740,949 (GRCm39)	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,983,644 (GRCm39)	R106H	probably benign	Het
Galr2	T	A	11: 116,173,874 (GRCm39)	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,701,399 (GRCm39)	S22L	unknown	Het
Gnpat	T	C	8: 125,590,008 (GRCm39)	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,328,344 (GRCm39)	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Ifna12	T	C	4: 88,521,440 (GRCm39)	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,631,373 (GRCm39)	D683E	probably benign	Het
Krit1	T	C	5: 3,873,651 (GRCm39)	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,098,723 (GRCm39)	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,079,074 (GRCm39)	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,348,781 (GRCm39)	N2638S	unknown	Het
Lrrc40	T	C	3: 157,742,442 (GRCm39)	V27A	probably damaging	Het
Map4k1	T	C	7: 28,690,574 (GRCm39)	V355A	probably benign	Het
Mylk3	T	C	8: 86,091,422 (GRCm39)	I128V	probably benign	Het
Myo1c	A	G	11: 75,551,789 (GRCm39)	D289G	probably benign	Het
Mypn	A	G	10: 62,970,737 (GRCm39)	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,746,407 (GRCm39)	P99L	possibly damaging	Het
Nlrp10	A	C	7: 108,523,855 (GRCm39)	S542A	probably benign	Het
Noc2l	T	A	4: 156,331,477 (GRCm39)	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,759,105 (GRCm39)	I355F	probably benign	Het
Nup210	A	G	6: 91,037,647 (GRCm39)	V742A	possibly damaging	Het
Nup50l	A	G	6: 96,142,798 (GRCm39)	V82A	possibly damaging	Het
Olig2	T	A	16: 91,023,307 (GRCm39)	L7Q	probably damaging	Het
Or51f23b	A	T	7: 102,402,395 (GRCm39)	I247N	probably benign	Het
Or8u10	A	T	2: 85,915,939 (GRCm39)	F61I	probably damaging	Het
Parpbp	A	T	10: 87,929,517 (GRCm39)	W444R	probably damaging	Het
Plekhg3	A	G	12: 76,625,019 (GRCm39)	E1287G	probably benign	Het
Pramel16	T	C	4: 143,675,848 (GRCm39)	D326G	probably damaging	Het
Pramel56	T	A	5: 95,022,641 (GRCm39)	N107K	possibly damaging	Het
Prrc2b	A	T	2: 32,103,075 (GRCm39)	Q851L	probably benign	Het
Psg21	C	T	7: 18,388,774 (GRCm39)	W106*	probably null	Het
Rab18	T	G	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rbm19	T	A	5: 120,261,216 (GRCm39)		probably null	Het
Rhobtb1	T	C	10: 69,102,127 (GRCm39)	V136A	probably benign	Het
Rsph4a	G	A	10: 33,785,189 (GRCm39)	V367I	probably damaging	Het
Sec24b	T	C	3: 129,781,391 (GRCm39)	N1161S	probably benign	Het
Sgcd	C	A	11: 47,016,428 (GRCm39)	G145*	probably null	Het
Sin3a	A	G	9: 57,001,755 (GRCm39)	K134R	probably null	Het
Slc9b2	A	G	3: 135,027,698 (GRCm39)	E108G	probably benign	Het
Stk24	A	T	14: 121,531,706 (GRCm39)	S317T	probably benign	Het
Stra8	T	A	6: 34,911,302 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,928,376 (GRCm39)	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,211,264 (GRCm39)	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,770,903 (GRCm39)	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,769,884 (GRCm39)	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,292,581 (GRCm39)	N667K	possibly damaging	Het
Zfp1005	A	G	2: 150,110,189 (GRCm39)	H293R	possibly damaging	Het
Zfp609	A	G	9: 65,609,723 (GRCm39)	V1080A	possibly damaging	Het
Zhx1	C	T	15: 57,917,734 (GRCm39)	V171I	probably benign	Het

Other mutations in Cd36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGATTGGGTCATCTATCCAGATAAC -3'
(R):5'- TTGCCAGAGATGTCTCACTAGC -3'

Sequencing Primer
(F):5'- GCTCTGAAATGGTCCAAG -3'
(R):5'- TGCCAGAGATGTCTCACTAGCTAATC -3'

Posted On

2019-05-15