Mutagenetix > Incidental Mutation

Incidental Mutation 'R9747:Cd36'

732203

Institutional Source

Beutler Lab

Gene Symbol

Cd36

Ensembl Gene

ENSMUSG00000002944

Gene Name

CD36 molecule

Synonyms

FAT, Scarb3, fatty acid translocase

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9747 (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 G at 18019732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 123 (E123A)

Ref Sequence

ENSEMBL: ENSMUSP00000080974 (fasta)

Gene Model

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

AlphaFold

Q08857

Predicted Effect

probably benign
Transcript: ENSMUST00000082367
AA Change: E123A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: E123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165232
AA Change: E123A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: E123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169095
AA Change: E123A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: E123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170051
AA Change: E123A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: E123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197574
AA Change: E123A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143107
Gene: ENSMUSG00000002944
AA Change: E123A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197890
AA Change: E123A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: E123A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,711 (GRCm39)	S701P	probably damaging	Het
Acsl1	A	G	8: 46,961,397 (GRCm39)	K114R	probably benign	Het
Adam11	A	G	11: 102,663,495 (GRCm39)	N275D	probably damaging	Het
Adamts19	G	A	18: 59,023,487 (GRCm39)	R294H	possibly damaging	Het
Adamts20	C	T	15: 94,180,943 (GRCm39)	C1666Y	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Ank1	A	G	8: 23,576,993 (GRCm39)	H195R	probably damaging	Het
Ank2	T	C	3: 126,752,667 (GRCm39)	T350A	probably damaging	Het
Asb3	T	A	11: 31,008,946 (GRCm39)	N243K	possibly damaging	Het
Atp10b	C	T	11: 43,088,339 (GRCm39)	T315I	probably benign	Het
Avl9	C	T	6: 56,730,825 (GRCm39)	S583F	probably damaging	Het
Bclaf1	A	G	10: 20,207,892 (GRCm39)	K700E	possibly damaging	Het
Brd10	C	A	19: 29,731,911 (GRCm39)	C367F	possibly damaging	Het
Cacna1i	G	A	15: 80,246,318 (GRCm39)	E571K	probably benign	Het
Casp1	T	A	9: 5,299,322 (GRCm39)	V17E	probably damaging	Het
Ccdc115	A	T	1: 34,478,001 (GRCm39)	D76E	probably benign	Het
Ccdc150	A	T	1: 54,299,107 (GRCm39)	R28*	probably null	Het
Cd5l	A	C	3: 87,275,104 (GRCm39)	Q214H	probably benign	Het
Cfap46	T	A	7: 139,191,907 (GRCm39)	H2370L	unknown	Het
Cftr	C	A	6: 18,285,636 (GRCm39)	T1148K	possibly damaging	Het
Col15a1	T	A	4: 47,312,208 (GRCm39)	L1341Q	probably damaging	Het
Col6a6	T	C	9: 105,661,239 (GRCm39)	E290G	probably benign	Het
D6Wsu163e	A	G	6: 126,938,977 (GRCm39)	E404G	probably benign	Het
Dchs1	A	T	7: 105,412,682 (GRCm39)	D1239E	probably damaging	Het
Dennd4b	C	T	3: 90,177,828 (GRCm39)	T430I	possibly damaging	Het
Dmgdh	C	T	13: 93,825,154 (GRCm39)	P159L	probably damaging	Het
Dmrt3	G	A	19: 25,600,003 (GRCm39)	D283N	probably damaging	Het
Dnttip1	A	G	2: 164,607,100 (GRCm39)	D247G	probably damaging	Het
Efhc1	A	T	1: 21,048,928 (GRCm39)	D447V	probably damaging	Het
Ehhadh	T	C	16: 21,585,138 (GRCm39)	K248E	probably benign	Het
Eif4enif1	T	C	11: 3,163,267 (GRCm39)	L34P	probably damaging	Het
Fer	T	C	17: 64,214,376 (GRCm39)	M103T	probably benign	Het
Gabrg1	T	C	5: 70,938,029 (GRCm39)	M197V	probably damaging	Het
Galnt5	C	A	2: 57,889,477 (GRCm39)	T359K	probably benign	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Gna12	T	C	5: 140,746,602 (GRCm39)	N281S	probably damaging	Het
Golgb1	C	T	16: 36,713,769 (GRCm39)	T250I	probably damaging	Het
Gpd1	A	G	15: 99,618,004 (GRCm39)	K130E	probably benign	Het
Gys2	A	T	6: 142,395,181 (GRCm39)	M428K	possibly damaging	Het
Hey2	A	C	10: 30,709,824 (GRCm39)	S310A	probably benign	Het
Ifi47	T	C	11: 48,987,367 (GRCm39)	V378A	possibly damaging	Het
Ighv8-12	A	G	12: 115,611,640 (GRCm39)	S95P	probably damaging	Het
Igkv1-131	G	T	6: 67,743,215 (GRCm39)	T56K	probably damaging	Het
Igsf23	T	C	7: 19,675,839 (GRCm39)	N127S	probably benign	Het
Iqgap2	T	A	13: 95,821,505 (GRCm39)	N546I	probably damaging	Het
Irf9	A	G	14: 55,844,045 (GRCm39)	H270R	probably benign	Het
Itga6	C	T	2: 71,656,871 (GRCm39)	S375L	probably damaging	Het
Jak1	T	C	4: 101,016,087 (GRCm39)	E857G	probably benign	Het
Kbtbd8	A	G	6: 95,098,838 (GRCm39)	T116A	possibly damaging	Het
Kif5a	T	C	10: 127,074,622 (GRCm39)	I570V	probably benign	Het
Klhdc10	T	C	6: 30,439,859 (GRCm39)	M154T	possibly damaging	Het
Krtap6-2	A	G	16: 89,216,776 (GRCm39)	Y64H	unknown	Het
Lce1l	C	T	3: 92,757,828 (GRCm39)	C10Y	unknown	Het
Lrrc72	A	G	12: 36,264,371 (GRCm39)	Y29H	probably damaging	Het
Ltbp2	A	T	12: 84,915,515 (GRCm39)	N181K	probably damaging	Het
Ly75	A	G	2: 60,136,672 (GRCm39)		probably null	Het
Mpped1	A	G	15: 83,684,305 (GRCm39)	Y109C	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,458 (GRCm39)	V267I	probably benign	Het
Muc4	T	A	16: 32,754,698 (GRCm38)	V1524E	probably benign	Het
Nabp2	T	A	10: 128,237,610 (GRCm39)	R208*	probably null	Het
Ndst3	A	G	3: 123,340,461 (GRCm39)	F786L	possibly damaging	Het
Nos2	C	T	11: 78,822,472 (GRCm39)	P123S	probably damaging	Het
Nrcam	T	A	12: 44,645,192 (GRCm39)	V1198E	probably damaging	Het
Oacyl	A	G	18: 65,880,962 (GRCm39)	Q592R	possibly damaging	Het
Or10ak9	C	T	4: 118,726,217 (GRCm39)	P80S	probably damaging	Het
Or5as1	T	A	2: 86,980,898 (GRCm39)	T36S	probably benign	Het
Pcdhgc4	A	G	18: 37,951,026 (GRCm39)	Y814C	probably benign	Het
Pcm1	A	C	8: 41,757,135 (GRCm39)	H1349P	probably benign	Het
Pcsk6	T	A	7: 65,633,470 (GRCm39)	D567E	probably damaging	Het
Pdgfd	T	C	9: 6,337,310 (GRCm39)	V214A	probably benign	Het
Plekhg3	A	T	12: 76,611,367 (GRCm39)	N270I	probably damaging	Het
Rasgrf1	T	A	9: 89,877,047 (GRCm39)	V804E	probably benign	Het
Rbl1	G	T	2: 157,033,966 (GRCm39)	L371I	probably damaging	Het
Rcl1	T	A	19: 29,105,482 (GRCm39)	I223N	probably damaging	Het
Saa4	C	T	7: 46,381,077 (GRCm39)	G15E	probably damaging	Het
Selenbp1	T	C	3: 94,844,648 (GRCm39)	S102P	probably damaging	Het
Setx	G	T	2: 29,064,377 (GRCm39)	E232*	probably null	Het
Sik2	A	G	9: 50,810,058 (GRCm39)	F502L	possibly damaging	Het
Slamf9	A	T	1: 172,305,782 (GRCm39)	I272F	unknown	Het
Slc33a1	A	T	3: 63,861,424 (GRCm39)	D259E	probably benign	Het
Slc41a3	A	G	6: 90,621,138 (GRCm39)	I393V	probably benign	Het
Slk	A	G	19: 47,608,346 (GRCm39)	D433G	possibly damaging	Het
Spata13	C	T	14: 60,929,240 (GRCm39)	P266L	probably benign	Het
Speer4c1	T	A	5: 15,916,652 (GRCm39)	Q105L	probably benign	Het
Srgap1	T	A	10: 121,761,771 (GRCm39)	I126F	probably damaging	Het
Srgap1	A	G	10: 121,628,579 (GRCm39)	S818P	probably benign	Het
Tbpl2	A	T	2: 23,981,104 (GRCm39)	C232*	probably null	Het
Tctn3	T	G	19: 40,599,743 (GRCm39)	N153T	possibly damaging	Het
Tdrd1	T	A	19: 56,847,101 (GRCm39)	V914E	probably benign	Het
Tmem200b	A	G	4: 131,649,359 (GRCm39)	H93R	possibly damaging	Het
Tmem33	T	G	5: 67,425,922 (GRCm39)	N155K	possibly damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo2	A	G	8: 85,781,988 (GRCm39)	D869G	probably benign	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Ttn	C	T	2: 76,594,293 (GRCm39)	V20552I	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vmn2r92	T	C	17: 18,405,201 (GRCm39)	F782L	possibly damaging	Het
Zfc3h1	G	A	10: 115,244,821 (GRCm39)	D765N	possibly damaging	Het
Zfp472	T	A	17: 33,196,271 (GRCm39)	H115Q	possibly damaging	Het
Zmynd11	T	A	13: 9,739,244 (GRCm39)	N514I	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
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
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'- GGCTGATTGGGTCATCTATCC -3'
(R):5'- GCCAGAGATGTCTCACTAGC -3'

Sequencing Primer
(F):5'- CTGATTGGGTCATCTATCCAGATAAC -3'
(R):5'- GCCAGAGATGTCTCACTAGCTAATC -3'

Posted On

2022-11-14