Incidental Mutation 'R5730:Cd80'
ID 452733
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 043191-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R5730 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 38277793-38316682 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 38303097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099816] [ENSMUST00000099816] [ENSMUST00000231716] [ENSMUST00000231716] [ENSMUST00000232409] [ENSMUST00000232409]
AlphaFold Q00609
Predicted Effect probably null
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: 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 null
Transcript: ENSMUST00000231716
Predicted Effect probably null
Transcript: ENSMUST00000232409
Predicted Effect probably null
Transcript: ENSMUST00000232409
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,617 (GRCm39) V2967A possibly damaging Het
Apaf1 A T 10: 90,856,633 (GRCm39) I858K possibly damaging Het
Baiap3 T C 17: 25,466,498 (GRCm39) T466A probably benign Het
Brca2 T A 5: 150,492,470 (GRCm39) S3162T possibly damaging Het
Brd1 T G 15: 88,601,248 (GRCm39) N462T probably benign Het
Carm1 G A 9: 21,491,636 (GRCm39) R235H probably benign Het
Clip4 A G 17: 72,117,954 (GRCm39) Y333C probably damaging Het
Col7a1 T C 9: 108,801,310 (GRCm39) probably null Het
Csmd1 G A 8: 16,235,206 (GRCm39) Q1206* probably null Het
Cyp17a1 A G 19: 46,661,095 (GRCm39) I63T possibly damaging Het
Diaph1 A G 18: 38,036,829 (GRCm39) Y119H unknown Het
Dst T G 1: 34,156,607 (GRCm39) probably null Het
Fgfr1 A G 8: 26,063,827 (GRCm39) T785A probably damaging Het
Gm1553 A G 10: 82,323,945 (GRCm39) F94S unknown Het
Gpbar1 A G 1: 74,318,195 (GRCm39) N146S probably damaging Het
Gpc5 A G 14: 116,025,726 (GRCm39) T588A possibly damaging Het
Gramd2a A G 9: 59,618,489 (GRCm39) H9R probably damaging Het
Klk1b11 G A 7: 43,424,199 (GRCm39) S6N probably benign Het
Lrp1 A G 10: 127,419,703 (GRCm39) S969P probably benign Het
Lyz2 G T 10: 117,114,587 (GRCm39) A114E probably damaging Het
Madd T C 2: 90,988,454 (GRCm39) D1193G probably damaging Het
Mrpl39 C T 16: 84,529,322 (GRCm39) G107R probably damaging Het
Mthfd2 C T 6: 83,294,441 (GRCm39) R24H probably benign Het
Or2q1 C T 6: 42,795,094 (GRCm39) R230* probably null Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Ovch2 A G 7: 107,392,606 (GRCm39) C246R probably damaging Het
Phf14 A T 6: 11,953,319 (GRCm39) I353F possibly damaging Het
Ppp2r5a C T 1: 191,104,732 (GRCm39) V105I probably benign Het
Prr14l T C 5: 32,950,947 (GRCm39) T1949A probably damaging Het
Prss48 T G 3: 85,904,563 (GRCm39) M212L possibly damaging Het
Pstk A T 7: 130,975,503 (GRCm39) D152V probably damaging Het
Scn2a C A 2: 65,512,882 (GRCm39) S214* probably null Het
Scn3a T G 2: 65,325,604 (GRCm39) N971T probably benign Het
Syne3 T C 12: 104,927,713 (GRCm39) I250V probably benign Het
Synpo2 T C 3: 122,907,768 (GRCm39) D516G probably benign Het
Tcea3 T C 4: 135,992,204 (GRCm39) V209A probably benign Het
Tnr A G 1: 159,715,892 (GRCm39) S885G probably benign Het
Trak2 T C 1: 58,960,966 (GRCm39) D188G probably damaging Het
Tubb1 A G 2: 174,299,562 (GRCm39) I415V probably benign Het
Virma T A 4: 11,542,154 (GRCm39) M1580K probably benign Het
Vmn1r120 A T 7: 20,786,934 (GRCm39) I259N possibly damaging Het
Vmn1r64 G A 7: 5,887,522 (GRCm39) T7I 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
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'- CCACAGGTACATACTGAAGAGGTG -3'
(R):5'- TGAGTGGCCAGAACATGATG -3'

Sequencing Primer
(F):5'- TACATACTGAAGAGGTGTAGGATG -3'
(R):5'- AGCCCTACTTACAGTGTC -3'
Posted On 2017-01-03