Incidental Mutation 'IGL02714:Cd86'
ID |
304685 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd86
|
Ensembl Gene |
ENSMUSG00000022901 |
Gene Name |
CD86 antigen |
Synonyms |
MB7-2, Ly-58, Cd28l2, Ly58, B70, B7.2, B7-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL02714
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
36424231-36486443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36441290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 59
(D59G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089620]
[ENSMUST00000135280]
|
AlphaFold |
P42082 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089620
AA Change: D59G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087047 Gene: ENSMUSG00000022901 AA Change: D59G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IGv
|
35 |
112 |
1.76e-8 |
SMART |
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
transmembrane domain
|
246 |
263 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135280
|
SMART Domains |
Protein: ENSMUSP00000117756 Gene: ENSMUSG00000022901
Domain | Start | End | E-Value | Type |
IGv
|
40 |
117 |
1.76e-8 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011] PHENOTYPE: Homozygous null mice on an NOD background display a phenotype similar to human Guillain-Barre Syndrome, exhibiting severe peripheral nervous system inflammation, sciatic nerve demyelination, elevated auto-antibodies to myelin protein zero, hindlimb paralysis, and weak forelimb grip. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcam |
T |
A |
7: 19,492,732 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
Ckmt2 |
A |
G |
13: 92,006,427 (GRCm39) |
M306T |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,220,542 (GRCm39) |
E744G |
probably damaging |
Het |
Gpr139 |
T |
A |
7: 118,744,342 (GRCm39) |
D81V |
possibly damaging |
Het |
Lsg1 |
T |
C |
16: 30,404,368 (GRCm39) |
|
probably null |
Het |
Ly9 |
A |
G |
1: 171,432,686 (GRCm39) |
V109A |
possibly damaging |
Het |
Mcm3ap |
T |
A |
10: 76,346,867 (GRCm39) |
S1806T |
probably benign |
Het |
Met |
T |
A |
6: 17,491,851 (GRCm39) |
Y204* |
probably null |
Het |
Or8b35 |
T |
A |
9: 37,904,382 (GRCm39) |
I198N |
possibly damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,111,568 (GRCm39) |
S798P |
possibly damaging |
Het |
Ppp2r5b |
C |
T |
19: 6,284,737 (GRCm39) |
R42H |
probably damaging |
Het |
Prg2 |
T |
A |
2: 84,813,849 (GRCm39) |
I220N |
probably damaging |
Het |
Prph |
A |
G |
15: 98,954,747 (GRCm39) |
D271G |
probably damaging |
Het |
Rassf9 |
T |
A |
10: 102,348,424 (GRCm39) |
L9Q |
possibly damaging |
Het |
Rpap3 |
A |
G |
15: 97,594,458 (GRCm39) |
Y157H |
possibly damaging |
Het |
Tacstd2 |
A |
T |
6: 67,512,053 (GRCm39) |
I213N |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,511,506 (GRCm39) |
L248P |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,850,260 (GRCm39) |
I1268N |
probably damaging |
Het |
Zp1 |
C |
T |
19: 10,895,976 (GRCm39) |
G220D |
probably damaging |
Het |
|
Other mutations in Cd86 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01464:Cd86
|
APN |
16 |
36,441,315 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01723:Cd86
|
APN |
16 |
36,427,486 (GRCm39) |
missense |
probably benign |
|
IGL01834:Cd86
|
APN |
16 |
36,427,481 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02554:Cd86
|
APN |
16 |
36,438,847 (GRCm39) |
missense |
probably benign |
0.01 |
R0032:Cd86
|
UTSW |
16 |
36,441,235 (GRCm39) |
missense |
probably damaging |
0.96 |
R0032:Cd86
|
UTSW |
16 |
36,441,235 (GRCm39) |
missense |
probably damaging |
0.96 |
R0315:Cd86
|
UTSW |
16 |
36,441,306 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0494:Cd86
|
UTSW |
16 |
36,438,999 (GRCm39) |
splice site |
probably benign |
|
R1345:Cd86
|
UTSW |
16 |
36,438,686 (GRCm39) |
splice site |
probably null |
|
R1459:Cd86
|
UTSW |
16 |
36,449,350 (GRCm39) |
missense |
probably benign |
0.09 |
R1616:Cd86
|
UTSW |
16 |
36,449,338 (GRCm39) |
missense |
probably benign |
0.00 |
R4436:Cd86
|
UTSW |
16 |
36,441,194 (GRCm39) |
missense |
probably benign |
0.04 |
R4593:Cd86
|
UTSW |
16 |
36,426,918 (GRCm39) |
makesense |
probably null |
|
R4612:Cd86
|
UTSW |
16 |
36,435,692 (GRCm39) |
missense |
probably benign |
0.00 |
R6058:Cd86
|
UTSW |
16 |
36,449,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7140:Cd86
|
UTSW |
16 |
36,441,263 (GRCm39) |
missense |
probably benign |
0.09 |
R7174:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7176:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7177:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7181:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7183:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7232:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7255:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7256:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R7267:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
R8826:Cd86
|
UTSW |
16 |
36,435,650 (GRCm39) |
missense |
possibly damaging |
0.45 |
R9595:Cd86
|
UTSW |
16 |
36,441,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |