Incidental Mutation 'R1345:Cd86'
| ID |
156478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd86
|
| Ensembl Gene |
ENSMUSG00000022901 |
| Gene Name |
CD86 antigen |
| Synonyms |
MB7-2, Ly-58, Cd28l2, Ly58, B70, B7.2, B7-2 |
| MMRRC Submission |
039410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R1345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36424231-36486443 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 36438686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089620]
[ENSMUST00000135280]
|
| AlphaFold |
P42082 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089620
|
| SMART Domains |
Protein: ENSMUSP00000087047
Gene: ENSMUSG00000022901
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
| Validation Efficiency |
100% (45/45) |
| 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 |
|---|
| 1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
| Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
| Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
| Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
| Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
| Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
| Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
| Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
| Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
| Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
| Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
| Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
| Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
| Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
| Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGGGTCAGTTTCAGGGCTAAG -3'
(R):5'- ACCTGCACGTCTAAGCAAGGTCAC -3'
Sequencing Primer
(F):5'- TCAGGGCTAAGACCATGTTTC -3'
(R):5'- GTCACCCGAAACCTAAGAAGATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation