Incidental Mutation 'IGL01723:Cd86'
ID105178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd86
Ensembl Gene ENSMUSG00000022901
Gene NameCD86 antigen
SynonymsB70, B7.2, Ly58, Cd28l2, Ly-58, MB7-2, B7-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01723
Quality Score
Status
Chromosome16
Chromosomal Location36603869-36666081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36607124 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 281 (L281S)
Ref Sequence ENSEMBL: ENSMUSP00000087047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089620]
Predicted Effect probably benign
Transcript: ENSMUST00000089620
AA Change: L281S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087047
Gene: ENSMUSG00000022901
AA Change: L281S

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,168 A705V probably benign Het
Abcc10 A T 17: 46,313,745 C728S probably damaging Het
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
BC067074 A T 13: 113,367,557 Q198L possibly damaging Het
C030048H21Rik A G 2: 26,254,768 S1316P possibly damaging Het
Cdon C T 9: 35,503,338 P1170S probably benign Het
Col11a2 T A 17: 34,061,280 probably benign Het
Cyp2j12 A G 4: 96,102,126 V401A possibly damaging Het
Cyp7a1 A T 4: 6,272,442 I257N probably damaging Het
Ddhd2 A T 8: 25,735,011 L593* probably null Het
Dnah8 T C 17: 30,708,471 L1367S probably damaging Het
Dsg4 G A 18: 20,466,510 V728M probably damaging Het
Dsp G A 13: 38,179,084 V447M probably damaging Het
Epx C T 11: 87,869,402 R462H probably damaging Het
Fgf18 T C 11: 33,134,332 T41A probably damaging Het
Fh1 G T 1: 175,601,542 A469D probably damaging Het
Hcn1 A C 13: 117,976,055 S852R probably damaging Het
Hmcn1 A T 1: 150,744,960 S1166R probably benign Het
Krt78 C T 15: 101,951,798 G228S possibly damaging Het
Lrrn4 T C 2: 132,870,061 E614G possibly damaging Het
Mettl9 T C 7: 121,052,269 I180T possibly damaging Het
Mgat2 A G 12: 69,185,641 T330A probably damaging Het
Myh13 T C 11: 67,369,219 probably benign Het
Nipbl G A 15: 8,335,071 T1283I possibly damaging Het
Nxpe4 A G 9: 48,398,598 D387G probably benign Het
Olfr1110 A G 2: 87,135,478 V281A probably benign Het
Olfr382 T A 11: 73,516,626 D191V probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcnt C T 10: 76,418,499 R832H possibly damaging Het
Ptprd A C 4: 76,243,673 S108R probably damaging Het
Ryr3 C T 2: 112,650,111 probably null Het
Slc22a4 C T 11: 53,988,845 V463M probably benign Het
Soga1 T C 2: 157,030,614 M938V probably benign Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Vmn2r44 T A 7: 8,377,916 H326L probably damaging Het
Vps13d A T 4: 145,173,145 M188K possibly damaging Het
Other mutations in Cd86
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Cd86 APN 16 36620953 missense probably benign 0.04
IGL01834:Cd86 APN 16 36607119 missense probably benign 0.20
IGL02554:Cd86 APN 16 36618485 missense probably benign 0.01
IGL02714:Cd86 APN 16 36620928 missense possibly damaging 0.49
R0032:Cd86 UTSW 16 36620873 missense probably damaging 0.96
R0032:Cd86 UTSW 16 36620873 missense probably damaging 0.96
R0315:Cd86 UTSW 16 36620944 missense possibly damaging 0.88
R0494:Cd86 UTSW 16 36618637 splice site probably benign
R1345:Cd86 UTSW 16 36618324 splice site probably null
R1459:Cd86 UTSW 16 36628988 missense probably benign 0.09
R1616:Cd86 UTSW 16 36628976 missense probably benign 0.00
R4436:Cd86 UTSW 16 36620832 missense probably benign 0.04
R4593:Cd86 UTSW 16 36606556 makesense probably null
R4612:Cd86 UTSW 16 36615330 missense probably benign 0.00
R6058:Cd86 UTSW 16 36629015 missense possibly damaging 0.91
R7140:Cd86 UTSW 16 36620901 missense probably benign 0.09
R7174:Cd86 UTSW 16 36606555 frame shift probably null
R7176:Cd86 UTSW 16 36606555 frame shift probably null
R7177:Cd86 UTSW 16 36606555 frame shift probably null
R7181:Cd86 UTSW 16 36606555 frame shift probably null
R7183:Cd86 UTSW 16 36606555 frame shift probably null
R7232:Cd86 UTSW 16 36606555 frame shift probably null
R7255:Cd86 UTSW 16 36606555 frame shift probably null
R7256:Cd86 UTSW 16 36606555 frame shift probably null
R7267:Cd86 UTSW 16 36606555 frame shift probably null
R8826:Cd86 UTSW 16 36615288 missense possibly damaging 0.45
Posted On2014-01-21