Incidental Mutation 'R7022:Cd80'
ID 568345
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 045123-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R7022 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 38277793-38316682 bp(+) (GRCm39)
Type of Mutation splice site (57 bp from exon)
DNA Base Change (assembly) A to G at 38306866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099816] [ENSMUST00000231716] [ENSMUST00000232409]
AlphaFold Q00609
Predicted Effect probably benign
Transcript: ENSMUST00000099816
SMART Domains Protein: ENSMUSP00000097404
Gene: ENSMUSG00000075122

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
Predicted Effect probably benign
Transcript: ENSMUST00000232409
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,974,326 (GRCm39) S203T probably damaging Het
Adat1 A T 8: 112,716,494 (GRCm39) M76K probably damaging Het
Ankrd33 G C 15: 101,014,780 (GRCm39) V56L probably benign Het
Ascc3 T A 10: 50,592,725 (GRCm39) L1134I possibly damaging Het
C3 T G 17: 57,524,286 (GRCm39) D948A probably damaging Het
Ccdc121rt3 A C 5: 112,503,395 (GRCm39) M103R probably benign Het
Ccdc40 A G 11: 119,122,612 (GRCm39) E138G possibly damaging Het
Cdca7 T A 2: 72,309,873 (GRCm39) probably null Het
Chit1 A G 1: 134,079,030 (GRCm39) S447G probably benign Het
Cmya5 C T 13: 93,205,786 (GRCm39) probably null Het
Cnnm2 A T 19: 46,750,989 (GRCm39) I260F probably damaging Het
Cnnm2 T A 19: 46,847,379 (GRCm39) probably null Het
Col1a2 T C 6: 4,534,639 (GRCm39) L881P unknown Het
Crebbp A T 16: 3,935,187 (GRCm39) S901T probably damaging Het
Dcun1d2 T C 8: 13,321,637 (GRCm39) Y158C probably damaging Het
Dnhd1 C T 7: 105,370,005 (GRCm39) P4477S probably benign Het
Donson A G 16: 91,478,218 (GRCm39) Y428H probably damaging Het
Dsp G T 13: 38,375,716 (GRCm39) W1167L probably benign Het
Elmo2 C T 2: 165,136,961 (GRCm39) V592M probably damaging Het
Enpp3 T A 10: 24,702,093 (GRCm39) E60D probably damaging Het
Erfl A T 7: 24,631,089 (GRCm39) probably null Het
Fam83b TAAGA T 9: 76,409,394 (GRCm39) probably null Het
Fbxo38 A G 18: 62,669,295 (GRCm39) C52R probably damaging Het
Gm10912 T C 2: 103,897,055 (GRCm39) W65R probably damaging Het
Gm43518 A T 5: 124,074,490 (GRCm39) M44L probably benign Het
Gnb1 T A 4: 155,637,913 (GRCm39) D212E probably damaging Het
Gnl1 A G 17: 36,299,620 (GRCm39) N597S probably damaging Het
Gprin1 T G 13: 54,886,855 (GRCm39) E473A probably benign Het
Ighv1-69 T A 12: 115,586,834 (GRCm39) M100L probably benign Het
Igkv14-100 T C 6: 68,496,193 (GRCm39) S29P probably damaging Het
Ints6 A G 14: 62,951,786 (GRCm39) V232A probably damaging Het
Jup A G 11: 100,270,379 (GRCm39) L376P probably damaging Het
Kdr A T 5: 76,132,920 (GRCm39) Y119* probably null Het
Kif1a T G 1: 92,993,820 (GRCm39) T377P probably benign Het
Lama5 C A 2: 179,822,524 (GRCm39) V2850L probably damaging Het
Lrp2 T C 2: 69,313,552 (GRCm39) Y2393C probably damaging Het
Mfsd13a C T 19: 46,356,763 (GRCm39) Q255* probably null Het
Msh3 A C 13: 92,372,096 (GRCm39) D891E probably damaging Het
Msl2 A G 9: 100,957,335 (GRCm39) N2D possibly damaging Het
Myo19 T C 11: 84,791,373 (GRCm39) L476P probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Nfasc C A 1: 132,548,787 (GRCm39) K293N probably damaging Het
Npbwr1 A T 1: 5,987,319 (GRCm39) L65Q probably damaging Het
Nrbp1 T A 5: 31,401,825 (GRCm39) D34E probably damaging Het
Nup205 T A 6: 35,220,871 (GRCm39) V1891D probably benign Het
Or51g2 T A 7: 102,623,175 (GRCm39) N8I possibly damaging Het
Or5g29 T A 2: 85,420,942 (GRCm39) D19E probably benign Het
Or5k1b T C 16: 58,581,482 (GRCm39) N19S probably benign Het
Or8g22 G T 9: 38,958,379 (GRCm39) C156* probably null Het
Oscp1 G A 4: 125,976,783 (GRCm39) probably null Het
Pcdhgb7 A G 18: 37,886,086 (GRCm39) T419A probably damaging Het
Pdzph1 T C 17: 59,281,121 (GRCm39) D387G probably benign Het
Phc1 A G 6: 122,311,990 (GRCm39) F56S probably damaging Het
Pik3c2g A G 6: 139,599,061 (GRCm39) E59G possibly damaging Het
Prickle1 G T 15: 93,398,752 (GRCm39) T692K possibly damaging Het
Rbm45 T A 2: 76,206,738 (GRCm39) L250Q probably damaging Het
Ror1 T A 4: 100,265,108 (GRCm39) M194K probably damaging Het
Rrbp1 T A 2: 143,799,722 (GRCm39) probably null Het
Rundc3b T C 5: 8,562,348 (GRCm39) K340R probably null Het
Scn1a T A 2: 66,148,243 (GRCm39) T1101S probably damaging Het
Sdk1 C G 5: 142,080,412 (GRCm39) probably null Het
Skic2 A G 17: 35,064,183 (GRCm39) F501S possibly damaging Het
Slc20a1 T A 2: 129,041,979 (GRCm39) M114K probably damaging Het
Sorl1 A C 9: 41,881,047 (GRCm39) I2158S probably benign Het
Strip1 A T 3: 107,534,111 (GRCm39) F174L probably benign Het
Sucnr1 A T 3: 59,993,699 (GRCm39) I76L probably benign Het
Syt17 C T 7: 118,007,242 (GRCm39) V412I probably benign Het
Tie1 T A 4: 118,346,850 (GRCm39) H18L probably benign Het
Tpp1 T G 7: 105,398,129 (GRCm39) K345Q probably damaging Het
Trcg1 G A 9: 57,148,852 (GRCm39) M141I possibly damaging Het
Trpc4ap T C 2: 155,499,742 (GRCm39) N260S probably benign Het
Vps41 C A 13: 19,026,438 (GRCm39) T512K possibly damaging Het
Vps52 A T 17: 34,178,293 (GRCm39) M147L probably benign Het
Ywhaq A G 12: 21,441,752 (GRCm39) probably benign Het
Zfp619 A G 7: 39,184,387 (GRCm39) N139S 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
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'- CTGTTTCAGAAGAAATGAGGCAAGC -3'
(R):5'- GACTAGGCACCTCTCCTTTTAG -3'

Sequencing Primer
(F):5'- GCAGAGAAACAAACAACAGCCTTAC -3'
(R):5'- AGGCACCTCTCCTTTTAGTGACAG -3'
Posted On 2019-07-03