Incidental Mutation 'R1213:Cd80'
ID 99499
Institutional Source Beutler Lab
Gene Symbol Cd80
Ensembl Gene ENSMUSG00000075122
Gene Name CD80 antigen
Synonyms B7.1, Ly-53, Cd28l, Ly53, B7-1
MMRRC Submission 039282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R1213 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 38277793-38316682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38294245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 43 (S43P)
Ref Sequence ENSEMBL: ENSMUSP00000156252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099816] [ENSMUST00000231716] [ENSMUST00000232409]
AlphaFold Q00609
Predicted Effect probably damaging
Transcript: ENSMUST00000099816
AA Change: S43P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097404
Gene: ENSMUSG00000075122
AA Change: S43P

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 damaging
Transcript: ENSMUST00000231716
AA Change: S43P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000232409
AA Change: S43P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.2%
  • 20x: 87.9%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,853,055 (GRCm39) S142P probably damaging Het
Appl1 G A 14: 26,665,950 (GRCm39) A388V probably benign Het
Atp11a A G 8: 12,892,859 (GRCm39) R70G probably benign Het
Atrnl1 G A 19: 57,626,894 (GRCm39) V167I probably benign Het
Bfar T C 16: 13,505,308 (GRCm39) I106T possibly damaging Het
Cbx8 T C 11: 118,930,359 (GRCm39) probably null Het
Fat4 G A 3: 38,944,520 (GRCm39) A1138T probably benign Het
Fcgbpl1 T C 7: 27,857,098 (GRCm39) S2149P probably damaging Het
Fmo3 C A 1: 162,795,392 (GRCm39) G148W probably damaging Het
Ftdc2 A T 16: 58,458,057 (GRCm39) Y81* probably null Het
Krt78 T C 15: 101,860,245 (GRCm39) M224V probably benign Het
Moxd2 A G 6: 40,868,831 (GRCm39) probably benign Het
Or13n4 T A 7: 106,423,404 (GRCm39) T110S possibly damaging Het
Or2y14 T A 11: 49,405,421 (GRCm39) *319K probably null Het
Or6d15 A G 6: 116,559,827 (GRCm39) S27P probably benign Het
Pax6 G A 2: 105,516,258 (GRCm39) G179R probably benign Het
Rbm12 G A 2: 155,939,412 (GRCm39) Q287* probably null Het
Rtel1 T A 2: 180,993,128 (GRCm39) H703Q probably benign Het
Spag17 A G 3: 100,002,954 (GRCm39) R1893G probably benign Het
Synpo A G 18: 60,735,525 (GRCm39) V807A possibly damaging Het
Other mutations in Cd80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Cd80 APN 16 38,303,045 (GRCm39) missense probably benign 0.41
Prod UTSW 16 38,294,391 (GRCm39) nonsense probably null
FR4304:Cd80 UTSW 16 38,306,677 (GRCm39) small insertion probably benign
FR4340:Cd80 UTSW 16 38,306,678 (GRCm39) small insertion probably benign
FR4548:Cd80 UTSW 16 38,306,681 (GRCm39) small insertion probably benign
R0605:Cd80 UTSW 16 38,303,056 (GRCm39) missense probably benign 0.07
R1905:Cd80 UTSW 16 38,294,539 (GRCm39) missense probably damaging 1.00
R3124:Cd80 UTSW 16 38,294,255 (GRCm39) missense probably damaging 1.00
R5154:Cd80 UTSW 16 38,294,342 (GRCm39) missense probably benign 0.34
R5316:Cd80 UTSW 16 38,294,239 (GRCm39) nonsense probably null
R5730:Cd80 UTSW 16 38,303,097 (GRCm39) critical splice donor site probably null
R7022:Cd80 UTSW 16 38,306,866 (GRCm39) splice site probably null
R7447:Cd80 UTSW 16 38,294,251 (GRCm39) missense probably benign 0.10
R7806:Cd80 UTSW 16 38,294,315 (GRCm39) missense probably benign 0.02
R7971:Cd80 UTSW 16 38,294,391 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTCACATGGCaaggaactcgtcatataa -3'
(R):5'- GCTGTATGTGCCCCGGTCTGAA -3'

Sequencing Primer
(F):5'- ccttcccctccccttctc -3'
(R):5'- TCTGAAAGGACCAGGCCC -3'
Posted On 2014-01-15