Incidental Mutation 'R6889:Cd8a'
ID 537099
Institutional Source Beutler Lab
Gene Symbol Cd8a
Ensembl Gene ENSMUSG00000053977
Gene Name CD8 antigen, alpha chain
Synonyms Ly-35, Lyt-2, Ly-B, Ly-2
MMRRC Submission 044983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 71373427-71379173 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 71374562 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 169 (T169P)
Ref Sequence ENSEMBL: ENSMUSP00000068123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066747] [ENSMUST00000172321]
AlphaFold P01731
PDB Structure MURINE CD8AA ECTODOMAIN FRAGMENT IN COMPLEX WITH H-2KB/VSV8 [X-RAY DIFFRACTION]
The Crystal Structure of a TL/CD8aa Complex at 2.1A resolution:Implications for Memory T cell Generation, Co-receptor Preference and Affinity [X-RAY DIFFRACTION]
CD8alpha-alpha in complex with YTS 105.18 Fab [X-RAY DIFFRACTION]
Crystal structure of a CD8ab heterodimer [X-RAY DIFFRACTION]
Crystal structure of CD8alpha-beta in complex with YTS 156.7 FAB [X-RAY DIFFRACTION]
Crystal structure of the CD8 alpha beta/H-2Dd complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000066747
AA Change: T169P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068123
Gene: ENSMUSG00000053977
AA Change: T169P

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
IG 38 148 1.46e-5 SMART
transmembrane domain 195 217 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172321
AA Change: T169P

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131873
Gene: ENSMUSG00000053977
AA Change: T169P

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
IG 38 148 1.46e-5 SMART
transmembrane domain 195 217 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Animals homozygous for a mutation in this gene lack CD8+CD4- cytotoxic T cells in the thymus and spleen and do not mount a cytotoxic response to alloantigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,943,053 (GRCm38) D103E probably benign Het
Abcc3 A T 11: 94,375,555 (GRCm38) S70T possibly damaging Het
Atp6v0a1 A G 11: 101,029,183 (GRCm38) Y214C possibly damaging Het
Azi2 A G 9: 118,049,895 (GRCm38) probably null Het
BC067074 C A 13: 113,318,378 (GRCm38) S319R probably damaging Het
Cacnb2 T A 2: 14,986,015 (GRCm38) V636E possibly damaging Het
Cfap44 G A 16: 44,404,132 (GRCm38) V68I probably benign Het
Eea1 G T 10: 96,037,478 (GRCm38) C1134F probably benign Het
Ehmt2 T G 17: 34,912,772 (GRCm38) F1192V probably damaging Het
Emc1 T C 4: 139,365,350 (GRCm38) F531L probably damaging Het
Eme1 G A 11: 94,650,477 (GRCm38) T173I probably benign Het
Gli2 A T 1: 118,844,416 (GRCm38) C520S probably damaging Het
Gm43302 T C 5: 105,280,138 (GRCm38) K186E probably benign Het
Gpr108 A T 17: 57,236,990 (GRCm38) N405K probably damaging Het
Hmgcl C A 4: 135,955,642 (GRCm38) T135N probably benign Het
Hydin G A 8: 110,532,856 (GRCm38) D2487N possibly damaging Het
Igfl3 G T 7: 18,179,800 (GRCm38) R25L probably benign Het
Igsf10 A C 3: 59,331,933 (GRCm38) S276A probably benign Het
Kctd1 A G 18: 14,973,988 (GRCm38) S211P probably damaging Het
Kctd7 A T 5: 130,152,501 (GRCm38) Q255L probably benign Het
Lrig1 A G 6: 94,625,063 (GRCm38) Y270H probably benign Het
Muc5ac C T 7: 141,809,744 (GRCm38) probably benign Het
Myh15 A G 16: 49,153,111 (GRCm38) N1248S possibly damaging Het
Nod1 A G 6: 54,944,109 (GRCm38) F408S probably benign Het
Nrp1 T C 8: 128,493,057 (GRCm38) F652S probably damaging Het
Olfr1338 G A 4: 118,754,307 (GRCm38) T79I probably damaging Het
Olfr487 A T 7: 108,211,918 (GRCm38) F204I probably benign Het
Olfr574 A T 7: 102,948,768 (GRCm38) H91L possibly damaging Het
Olfr821 T C 10: 130,034,532 (GRCm38) M302T probably benign Het
Opa1 G T 16: 29,620,868 (GRCm38) R792L probably benign Het
Pcdha6 G T 18: 36,968,343 (GRCm38) L196F probably damaging Het
Pdia2 A T 17: 26,196,970 (GRCm38) Y347* probably null Het
Pdpr G T 8: 111,124,613 (GRCm38) probably null Het
Pigt T A 2: 164,507,331 (GRCm38) L518Q probably damaging Het
Ppfibp2 A C 7: 107,737,981 (GRCm38) D591A possibly damaging Het
Prrg2 G A 7: 45,059,989 (GRCm38) T97M possibly damaging Het
Qars A G 9: 108,513,183 (GRCm38) T428A probably damaging Het
Rai1 T C 11: 60,185,715 (GRCm38) F202L probably damaging Het
Rars A T 11: 35,808,486 (GRCm38) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,579,925 (GRCm38) probably benign Het
Slc16a6 A C 11: 109,455,040 (GRCm38) F382V probably damaging Het
Slc30a7 T C 3: 115,954,153 (GRCm38) T330A probably damaging Het
Smc1b A T 15: 85,067,759 (GRCm38) L1157Q probably damaging Het
Snx4 G T 16: 33,251,470 (GRCm38) A4S possibly damaging Het
Sv2b A C 7: 75,125,767 (GRCm38) probably null Het
Syt9 A T 7: 107,425,286 (GRCm38) I129L probably damaging Het
Ttbk2 T C 2: 120,773,353 (GRCm38) E198G probably damaging Het
Ubr3 A T 2: 69,944,300 (GRCm38) D488V possibly damaging Het
Ush2a T A 1: 188,797,871 (GRCm38) C3286S probably damaging Het
Vill A G 9: 119,065,882 (GRCm38) D56G possibly damaging Het
Vmn1r41 A T 6: 89,747,370 (GRCm38) I298F probably damaging Het
Vmn2r2 A T 3: 64,117,267 (GRCm38) V631D probably damaging Het
Vmn2r32 A G 7: 7,472,574 (GRCm38) S437P possibly damaging Het
Vmn2r53 A G 7: 12,601,142 (GRCm38) V197A probably benign Het
Wasf1 A T 10: 40,920,369 (GRCm38) I32F probably damaging Het
Wasf2 G T 4: 133,194,730 (GRCm38) A387S unknown Het
Wdr92 G A 11: 17,222,309 (GRCm38) V133M probably damaging Het
Zbtb14 G A 17: 69,387,679 (GRCm38) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm38) A37S probably damaging Het
Zfp532 A G 18: 65,686,990 (GRCm38) E882G possibly damaging Het
Other mutations in Cd8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Cd8a APN 6 71,373,707 (GRCm38) missense probably benign 0.04
IGL02342:Cd8a APN 6 71,373,739 (GRCm38) missense probably damaging 1.00
Alfalfa UTSW 6 71,373,728 (GRCm38) missense probably damaging 0.99
Sprouts UTSW 6 71,373,929 (GRCm38) missense probably damaging 0.97
wenzhou UTSW 6 71,373,872 (GRCm38) missense probably benign 0.02
PIT4618001:Cd8a UTSW 6 71,373,677 (GRCm38) missense possibly damaging 0.94
R0212:Cd8a UTSW 6 71,373,649 (GRCm38) missense probably benign 0.01
R1158:Cd8a UTSW 6 71,373,728 (GRCm38) missense probably damaging 0.99
R1813:Cd8a UTSW 6 71,373,963 (GRCm38) missense possibly damaging 0.47
R4541:Cd8a UTSW 6 71,373,872 (GRCm38) missense probably benign 0.02
R5836:Cd8a UTSW 6 71,373,791 (GRCm38) missense possibly damaging 0.48
R6390:Cd8a UTSW 6 71,373,929 (GRCm38) missense probably damaging 0.97
R7773:Cd8a UTSW 6 71,373,815 (GRCm38) missense probably benign 0.01
Z1088:Cd8a UTSW 6 71,373,686 (GRCm38) missense possibly damaging 0.85
Z1177:Cd8a UTSW 6 71,374,593 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CTTCCTCTAGTTAAAAGCTAGGAAACG -3'
(R):5'- TCACAGGCGAAGTCCAATCC -3'

Sequencing Primer
(F):5'- AAGCTAGGAAACGGCTCCTTCTTG -3'
(R):5'- CTTCACTGACAAGATCCGAATGAATG -3'
Posted On 2018-10-18