Incidental Mutation 'R5836:Cd8a'
ID 449587
Institutional Source Beutler Lab
Gene Symbol Cd8a
Ensembl Gene ENSMUSG00000053977
Gene Name CD8 subunit alpha
Synonyms Lyt-2, Ly-B, Ly-35, Ly-2
MMRRC Submission 043222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5836 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71350411-71356155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71350775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 80 (V80A)
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 possibly damaging
Transcript: ENSMUST00000066747
AA Change: V80A

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068123
Gene: ENSMUSG00000053977
AA Change: V80A

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 benign
Transcript: ENSMUST00000172321
AA Change: V80A

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131873
Gene: ENSMUSG00000053977
AA Change: V80A

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 noncoding transcript
Transcript: ENSMUST00000205022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205054
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G T 17: 36,272,918 (GRCm39) A243D possibly damaging Het
Azin2 C T 4: 128,842,670 (GRCm39) G128D probably damaging Het
Babam1 A G 8: 71,855,687 (GRCm39) E260G probably benign Het
Brwd1 A T 16: 95,865,958 (GRCm39) S275T probably damaging Het
Clec4a3 T C 6: 122,929,861 (GRCm39) F12S possibly damaging Het
Dennd2b A T 7: 109,140,552 (GRCm39) S225T possibly damaging Het
Dnah5 A C 15: 28,383,738 (GRCm39) N2987H probably damaging Het
Dock9 A G 14: 121,918,763 (GRCm39) F78S probably damaging Het
Eml3 A G 19: 8,918,659 (GRCm39) T885A possibly damaging Het
Esr1 T C 10: 4,662,817 (GRCm39) V145A probably benign Het
Gm5108 A G 5: 68,101,953 (GRCm39) probably benign Het
Gpr179 T C 11: 97,229,882 (GRCm39) S758G probably benign Het
Heatr1 T A 13: 12,423,617 (GRCm39) L538Q probably damaging Het
Ikzf2 A G 1: 69,578,546 (GRCm39) I176T probably damaging Het
Lrp3 A G 7: 34,902,747 (GRCm39) V533A probably damaging Het
Nkx2-5 A T 17: 27,058,063 (GRCm39) V297E possibly damaging Het
Or13a19 G A 7: 139,902,827 (GRCm39) V72I probably benign Het
Or2y16 T C 11: 49,335,353 (GRCm39) L225P probably damaging Het
Or8g23 T C 9: 38,971,918 (GRCm39) T15A probably benign Het
Pclo T A 5: 14,728,549 (GRCm39) probably benign Het
Pdgfra T C 5: 75,324,435 (GRCm39) W97R possibly damaging Het
Plekha5 T C 6: 140,372,250 (GRCm39) Y67H probably damaging Het
Plin5 A T 17: 56,422,549 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Prickle1 T A 15: 93,400,898 (GRCm39) K529* probably null Het
Ptbp2 G A 3: 119,519,746 (GRCm39) T107I probably damaging Het
Ptpn12 C T 5: 21,214,544 (GRCm39) W197* probably null Het
Rhobtb1 T C 10: 69,105,819 (GRCm39) V128A probably damaging Het
Ryr2 T C 13: 11,618,618 (GRCm39) T3866A probably damaging Het
Serpina3m T C 12: 104,355,509 (GRCm39) Y59H probably damaging Het
Slc12a6 T C 2: 112,172,343 (GRCm39) V414A possibly damaging Het
Slc34a1 T C 13: 55,561,278 (GRCm39) M581T probably benign Het
Slco1c1 A G 6: 141,515,040 (GRCm39) Y596C probably damaging Het
Stoml1 T C 9: 58,168,123 (GRCm39) L278P probably benign Het
Tecpr2 C T 12: 110,897,945 (GRCm39) A399V possibly damaging Het
Tmem229a T C 6: 24,955,016 (GRCm39) E246G probably damaging Het
Vmn1r224 A T 17: 20,639,953 (GRCm39) I177L probably benign Het
Zswim5 C T 4: 116,842,000 (GRCm39) T860I probably benign Het
Other mutations in Cd8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Cd8a APN 6 71,350,691 (GRCm39) missense probably benign 0.04
IGL02342:Cd8a APN 6 71,350,723 (GRCm39) missense probably damaging 1.00
Alfalfa UTSW 6 71,350,712 (GRCm39) missense probably damaging 0.99
Sprouts UTSW 6 71,350,913 (GRCm39) missense probably damaging 0.97
wenzhou UTSW 6 71,350,856 (GRCm39) missense probably benign 0.02
PIT4618001:Cd8a UTSW 6 71,350,661 (GRCm39) missense possibly damaging 0.94
R0212:Cd8a UTSW 6 71,350,633 (GRCm39) missense probably benign 0.01
R1158:Cd8a UTSW 6 71,350,712 (GRCm39) missense probably damaging 0.99
R1813:Cd8a UTSW 6 71,350,947 (GRCm39) missense possibly damaging 0.47
R4541:Cd8a UTSW 6 71,350,856 (GRCm39) missense probably benign 0.02
R6390:Cd8a UTSW 6 71,350,913 (GRCm39) missense probably damaging 0.97
R6889:Cd8a UTSW 6 71,351,546 (GRCm39) missense probably damaging 1.00
R7773:Cd8a UTSW 6 71,350,799 (GRCm39) missense probably benign 0.01
Z1088:Cd8a UTSW 6 71,350,670 (GRCm39) missense possibly damaging 0.85
Z1177:Cd8a UTSW 6 71,351,577 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GCTGGGTGAGTCGATTATCC -3'
(R):5'- TTTCTGAAGGACTGGCACG -3'

Sequencing Primer
(F):5'- TTATCCTGGGGAGTGGAGAAGC -3'
(R):5'- ACTGAAGTACATCACCGAGTTG -3'
Posted On 2016-12-20