Incidental Mutation 'R7420:Cd36'
| ID |
575591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd36
|
| Ensembl Gene |
ENSMUSG00000002944 |
| Gene Name |
CD36 molecule |
| Synonyms |
FAT, Scarb3, fatty acid translocase |
| MMRRC Submission |
045498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R7420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
17986688-18093799 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 17993272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 393
(V393L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082367]
[ENSMUST00000165232]
[ENSMUST00000169095]
[ENSMUST00000170051]
[ENSMUST00000197890]
|
| AlphaFold |
Q08857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082367
AA Change: V393L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080974
Gene: ENSMUSG00000002944
AA Change: V393L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
14 |
463 |
2.5e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165232
AA Change: V393L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126300
Gene: ENSMUSG00000002944
AA Change: V393L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
12 |
465 |
2.5e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169095
AA Change: V393L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131832
Gene: ENSMUSG00000002944
AA Change: V393L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
12 |
465 |
2.5e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170051
AA Change: V393L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133008
Gene: ENSMUSG00000002944
AA Change: V393L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
12 |
465 |
2.5e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197890
AA Change: V393L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143061
Gene: ENSMUSG00000002944
AA Change: V393L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
12 |
465 |
2.5e-149 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,141,303 (GRCm39) |
V6A |
probably benign |
Het |
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,209,378 (GRCm39) |
T274I |
probably benign |
Het |
| Atad5 |
A |
T |
11: 79,986,688 (GRCm39) |
T592S |
probably benign |
Het |
| Bud13 |
C |
T |
9: 46,199,113 (GRCm39) |
P158L |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,361,613 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cd79a |
A |
T |
7: 24,596,971 (GRCm39) |
R9* |
probably null |
Het |
| Cep164 |
T |
C |
9: 45,679,840 (GRCm39) |
H1131R |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,037,980 (GRCm39) |
S321T |
probably benign |
Het |
| Chrnd |
T |
A |
1: 87,122,543 (GRCm39) |
V217E |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,462 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
T |
C |
5: 87,927,865 (GRCm39) |
S60P |
possibly damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,369,623 (GRCm39) |
A1618T |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,008,233 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,100,687 (GRCm39) |
T546S |
possibly damaging |
Het |
| Fam135a |
A |
G |
1: 24,051,567 (GRCm39) |
S1443P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,627,664 (GRCm39) |
P179Q |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,868,431 (GRCm39) |
T647A |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,669 (GRCm39) |
N1494S |
probably benign |
Het |
| Gm4952 |
G |
A |
19: 12,604,265 (GRCm39) |
G226R |
probably damaging |
Het |
| Gm5460 |
T |
A |
14: 33,758,714 (GRCm39) |
F156I |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,115,909 (GRCm39) |
V849D |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,292,005 (GRCm39) |
D111G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,105,761 (GRCm39) |
D895G |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
| Kdm5b |
T |
C |
1: 134,532,235 (GRCm39) |
V471A |
probably benign |
Het |
| Klhdc8b |
A |
G |
9: 108,326,317 (GRCm39) |
Y239H |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,454,022 (GRCm39) |
T229A |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,504,451 (GRCm39) |
S2506T |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,341,993 (GRCm39) |
L656P |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,013,773 (GRCm39) |
|
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,739 (GRCm39) |
S497P |
probably benign |
Het |
| Or2ag1b |
G |
A |
7: 106,288,227 (GRCm39) |
A237V |
possibly damaging |
Het |
| Or8b44 |
G |
T |
9: 38,410,359 (GRCm39) |
L131F |
probably benign |
Het |
| Otud4 |
C |
A |
8: 80,390,737 (GRCm39) |
T418K |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,256 (GRCm39) |
N462D |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,278 (GRCm39) |
S497P |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,507 (GRCm39) |
F121L |
probably null |
Het |
| Prxl2c |
C |
T |
13: 64,445,131 (GRCm39) |
G164D |
possibly damaging |
Het |
| Sdad1 |
G |
A |
5: 92,453,596 (GRCm39) |
A64V |
possibly damaging |
Het |
| Selenop |
G |
T |
15: 3,309,052 (GRCm39) |
A335S |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,271 (GRCm39) |
N448S |
probably benign |
Het |
| Shcbp1 |
G |
A |
8: 4,798,737 (GRCm39) |
T394I |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,138,648 (GRCm39) |
A276E |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Speg |
T |
A |
1: 75,407,549 (GRCm39) |
S3185R |
probably damaging |
Het |
| Tmem100 |
A |
T |
11: 89,926,579 (GRCm39) |
*135Y |
probably null |
Het |
| Ube2o |
A |
T |
11: 116,430,898 (GRCm39) |
F1001I |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,527,985 (GRCm39) |
D148G |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,736 (GRCm39) |
T648A |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,944 (GRCm39) |
L687P |
possibly damaging |
Het |
| Zcchc14 |
ACCGCCGCCGCCGCCGCC |
ACCGCCGCCGCCGCC |
8: 122,378,530 (GRCm39) |
|
probably benign |
Het |
| Zfp800 |
A |
G |
6: 28,243,718 (GRCm39) |
S416P |
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 |
|
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'- TGGATATAGGATGCATAGAAGTACC -3'
(R):5'- AGGACTCTAATTTCTCAGCCTTAAG -3'
Sequencing Primer
(F):5'- TAGGATGCATAGAAGTACCCCCAAC -3'
(R):5'- CTGAAAAGCTAAATTCTGGCTAT -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation