Incidental Mutation 'R7971:Cd80'
ID 650632
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 046014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R7971 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38277793-38316682 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 38294391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 91 (Y91*)
Ref Sequence ENSEMBL: ENSMUSP00000097404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099816] [ENSMUST00000231716] [ENSMUST00000232409]
AlphaFold Q00609
PDB Structure Crystal structure of T cell costimulatory ligand B7-1 (CD80) [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000099816
AA Change: Y91*
SMART Domains Protein: ENSMUSP00000097404
Gene: ENSMUSG00000075122
AA Change: Y91*

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 null
Transcript: ENSMUST00000231716
AA Change: Y91*
Predicted Effect probably null
Transcript: ENSMUST00000232409
AA Change: Y91*
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik G A 11: 81,754,526 (GRCm39) A16T unknown Het
Abcc1 T A 16: 14,266,443 (GRCm39) D880E probably benign Het
Adamts2 G A 11: 50,647,523 (GRCm39) V299I probably damaging Het
Akap6 T C 12: 53,186,578 (GRCm39) S1331P probably damaging Het
Alms1 T C 6: 85,605,661 (GRCm39) L1968S probably benign Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Cacnb2 A T 2: 14,976,409 (GRCm39) M277L possibly damaging Het
Cfap46 A G 7: 139,215,043 (GRCm39) S1561P unknown Het
Clasp1 C T 1: 118,449,559 (GRCm39) R647W probably damaging Het
Creld1 T C 6: 113,468,933 (GRCm39) V299A probably benign Het
Csk C A 9: 57,535,970 (GRCm39) G260V probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dgkg G A 16: 22,388,966 (GRCm39) Q403* probably null Het
Dnaaf2 T C 12: 69,244,119 (GRCm39) D314G probably damaging Het
Dsp T A 13: 38,376,499 (GRCm39) L1428Q probably damaging Het
Fastkd1 A G 2: 69,537,703 (GRCm39) V293A probably benign Het
Gm4353 C A 7: 115,682,747 (GRCm39) S278I possibly damaging Het
Hmgb2 A G 8: 57,966,168 (GRCm39) M75V possibly damaging Het
Hoxa4 G A 6: 52,168,711 (GRCm39) probably benign Het
Ifi206 A T 1: 173,298,976 (GRCm39) W877R unknown Het
Ifi44 T A 3: 151,454,857 (GRCm39) I123F possibly damaging Het
Kcnh6 A G 11: 105,908,353 (GRCm39) Y323C probably damaging Het
Lars1 T C 18: 42,351,631 (GRCm39) T858A probably benign Het
Mest T A 6: 30,740,734 (GRCm39) I38N Het
Npy2r A T 3: 82,448,175 (GRCm39) I200N probably damaging Het
Olfm4 T A 14: 80,259,240 (GRCm39) M496K probably damaging Het
Olfml2a A T 2: 38,831,794 (GRCm39) probably null Het
Omd A T 13: 49,743,730 (GRCm39) H260L probably benign Het
Or8c16 G T 9: 38,130,843 (GRCm39) L238F probably benign Het
Pigk C A 3: 152,450,176 (GRCm39) Q274K probably benign Het
Pmpca G A 2: 26,283,164 (GRCm39) G352R probably damaging Het
Prex1 C T 2: 166,423,859 (GRCm39) S1181N probably damaging Het
Prkg2 A T 5: 99,079,873 (GRCm39) F762Y probably damaging Het
Rcc1l A G 5: 134,194,208 (GRCm39) S250P probably damaging Het
Rufy1 A T 11: 50,312,498 (GRCm39) F152Y probably damaging Het
Scaf1 T A 7: 44,652,965 (GRCm39) T1179S unknown Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Shroom3 C T 5: 93,098,933 (GRCm39) S1471L probably damaging Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Slc13a4 A G 6: 35,248,695 (GRCm39) L484P probably damaging Het
Slc35a1 T C 4: 34,664,161 (GRCm39) D319G probably benign Het
Synm T C 7: 67,384,983 (GRCm39) E893G possibly damaging Het
Tatdn2 A G 6: 113,687,235 (GRCm39) probably null Het
Thada T A 17: 84,580,197 (GRCm39) D1419V possibly damaging Het
Tmem87b A G 2: 128,692,250 (GRCm39) D535G probably null Het
Tnfrsf25 A C 4: 152,204,193 (GRCm39) Q378P probably damaging Het
Trim34a T C 7: 103,897,025 (GRCm39) C30R probably damaging Het
Triml2 T C 8: 43,643,313 (GRCm39) S212P probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign 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
R1213:Cd80 UTSW 16 38,294,245 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TCTAGCTTCATGCACCGTGG -3'
(R):5'- GGAGAATCCTACCAACCTTTGATG -3'

Sequencing Primer
(F):5'- ATGCACCGTGGTTAGTCAC -3'
(R):5'- CCAACCTTTGATGGACAACTTTAC -3'
Posted On 2020-09-15