Incidental Mutation 'R4593:Cd86'
| ID |
344236 |
| 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 |
041809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4593 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36424231-36486443 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 36426918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 310
(*310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089620]
|
| AlphaFold |
P42082 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089620
AA Change: *310R
|
| SMART Domains |
Protein: ENSMUSP00000087047
Gene: ENSMUSG00000022901
AA Change: *310R
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (45/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
| Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
| Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
| Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
| Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
| Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
| Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
| Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
| Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
| Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
possibly 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 |
|
|
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 |
|
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'- ACACTGCCACCTGTTTATGG -3'
(R):5'- AGGGTGGTTTTATGTCCAACATTAG -3'
Sequencing Primer
(F):5'- CACCTGTTTATGGCTACTTTCC -3'
(R):5'- TCCTGGGGATGCAGAAAA -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation