Incidental Mutation 'IGL01834:Cd86'
| ID |
154892 |
| 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 # |
IGL01834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36424231-36486443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36427481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 283
(R283W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089620]
|
| AlphaFold |
P42082 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089620
AA Change: R283W
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087047
Gene: ENSMUSG00000022901
AA Change: R283W
| 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: ENSMUST00000154485
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,348,183 (GRCm39) |
I634V |
possibly damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,234,595 (GRCm39) |
|
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,489 (GRCm39) |
Q243L |
probably benign |
Het |
| C2cd6 |
G |
A |
1: 59,036,604 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,137,251 (GRCm39) |
|
probably null |
Het |
| Cd2ap |
T |
A |
17: 43,137,252 (GRCm39) |
|
probably null |
Het |
| CK137956 |
T |
A |
4: 127,840,442 (GRCm39) |
K421N |
probably damaging |
Het |
| Coro2b |
G |
A |
9: 62,338,639 (GRCm39) |
T193I |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,325,824 (GRCm39) |
|
probably benign |
Het |
| Fas |
A |
G |
19: 34,296,003 (GRCm39) |
T149A |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,273,468 (GRCm39) |
I121F |
probably damaging |
Het |
| Hes3 |
C |
T |
4: 152,371,557 (GRCm39) |
A106T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,105 (GRCm39) |
Y253H |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,802,731 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
C |
A |
1: 134,417,158 (GRCm39) |
R557S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,600,453 (GRCm39) |
T315A |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,122,066 (GRCm39) |
Y272C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,538,071 (GRCm39) |
I1202V |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,026,140 (GRCm39) |
K87* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,293,140 (GRCm39) |
T632A |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,807,901 (GRCm39) |
H1630Q |
possibly damaging |
Het |
| Myo9b |
T |
C |
8: 71,808,962 (GRCm39) |
I1767T |
probably damaging |
Het |
| Naprt |
A |
G |
15: 75,765,648 (GRCm39) |
F92S |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,668 (GRCm39) |
I11N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,860 (GRCm39) |
Y291C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,556,564 (GRCm39) |
T306A |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,711,279 (GRCm39) |
F12S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,692 (GRCm39) |
N613Y |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,925,446 (GRCm39) |
I731T |
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,046,832 (GRCm39) |
T465I |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,454,773 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,610,311 (GRCm39) |
I607L |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,720,073 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,885,293 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,147 (GRCm39) |
T377A |
possibly damaging |
Het |
| Sympk |
G |
T |
7: 18,777,360 (GRCm39) |
A537S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,739,898 (GRCm39) |
S518P |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,475 (GRCm39) |
K45E |
probably benign |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,554 (GRCm39) |
F124L |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,061,576 (GRCm39) |
Y133H |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,354 (GRCm39) |
E578D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,567,133 (GRCm39) |
|
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,811,371 (GRCm39) |
N510D |
probably benign |
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 |
|
|
IGL02554:Cd86
|
APN |
16 |
36,438,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02714:Cd86
|
APN |
16 |
36,441,290 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
2014-02-04 |
Incidental Mutation