Incidental Mutation 'IGL02524:Cd80'
ID296985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd80
Ensembl Gene ENSMUSG00000075122
Gene NameCD80 antigen
SynonymsLy53, B7-1, Ly-53, Cd28l, B7.1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02524
Quality Score
Status
Chromosome16
Chromosomal Location38455561-38496335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38482683 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 164 (V164A)
Ref Sequence ENSEMBL: ENSMUSP00000156252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099816] [ENSMUST00000231716] [ENSMUST00000232409]
Predicted Effect probably benign
Transcript: ENSMUST00000099816
AA Change: V258A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097404
Gene: ENSMUSG00000075122
AA Change: V258A

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
IG 39 138 5.08e-5 SMART
Pfam:Ig_3 140 223 3.5e-5 PFAM
Pfam:C2-set_2 145 230 1.4e-20 PFAM
transmembrane domain 249 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231716
AA Change: V258A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000232409
AA Change: V164A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutation of this gene results in a 70% reduction in the mixed lymphocyte response in LPS- and dextran sulfate-stimulated B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415O20Rik G A 15: 98,571,125 probably null Het
Abca8a A G 11: 110,078,815 probably benign Het
Acvr1 T C 2: 58,448,307 probably benign Het
Asap3 A T 4: 136,238,616 T453S probably damaging Het
Ccdc110 C T 8: 45,941,942 P290L probably benign Het
Ccdc127 A G 13: 74,352,897 N11S probably damaging Het
Ctnna3 T C 10: 64,260,826 I381T possibly damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Etnppl A G 3: 130,630,671 probably benign Het
Far2 T A 6: 148,150,658 L145Q probably damaging Het
Fdxr A G 11: 115,271,260 probably null Het
Jmy A G 13: 93,472,760 V347A probably damaging Het
Kcns2 A G 15: 34,838,835 I115V probably benign Het
Kif2a A G 13: 106,964,355 L627S possibly damaging Het
Krtap26-1 A G 16: 88,647,479 S85P possibly damaging Het
Ldlr C A 9: 21,733,681 D168E probably damaging Het
Lrrc8e T G 8: 4,235,392 L539R probably damaging Het
Mmp8 A G 9: 7,560,505 E61G probably damaging Het
Msh2 T C 17: 87,678,357 F121L probably benign Het
Myh4 A G 11: 67,249,240 K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 F246S probably benign Het
Nynrin C T 14: 55,871,474 A1346V possibly damaging Het
Olfr1055 A C 2: 86,347,342 C141W probably damaging Het
P2rx1 C T 11: 73,009,648 P196L probably damaging Het
Pbx3 T C 2: 34,370,818 probably benign Het
Psen2 A T 1: 180,245,667 S30T probably benign Het
Rack1 T C 11: 48,803,471 V166A probably benign Het
Rpgrip1 A G 14: 52,121,054 T206A probably benign Het
Rrp7a A G 15: 83,118,178 probably benign Het
Slco1b2 C T 6: 141,671,072 T377I probably benign Het
Sult2a6 A T 7: 14,236,686 S162T possibly damaging Het
Syt2 A G 1: 134,741,965 K115E probably benign Het
Tet1 A G 10: 62,878,646 S457P probably damaging Het
Trbv3 A G 6: 41,048,665 E63G possibly damaging Het
Unc13d T C 11: 116,070,319 Y404C probably damaging Het
Usp32 G A 11: 85,010,011 R1128* probably null Het
Vps4a G A 8: 107,036,751 probably benign Het
Ythdc2 T A 18: 44,847,854 H505Q probably damaging Het
Ywhab T A 2: 164,016,137 L208Q probably damaging Het
Zfyve16 T C 13: 92,504,514 K1241E probably benign Het
Other mutations in Cd80
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Cd80 UTSW 16 38486315 small insertion probably benign
FR4340:Cd80 UTSW 16 38486316 small insertion probably benign
FR4548:Cd80 UTSW 16 38486319 small insertion probably benign
R0605:Cd80 UTSW 16 38482694 missense probably benign 0.07
R1213:Cd80 UTSW 16 38473883 missense probably damaging 0.99
R1905:Cd80 UTSW 16 38474177 missense probably damaging 1.00
R3124:Cd80 UTSW 16 38473893 missense probably damaging 1.00
R5154:Cd80 UTSW 16 38473980 missense probably benign 0.34
R5316:Cd80 UTSW 16 38473877 nonsense probably null
R5730:Cd80 UTSW 16 38482735 critical splice donor site probably null
Posted On2015-04-16