Incidental Mutation 'PIT4618001:Cd8a'
ID 555692
Institutional Source Beutler Lab
Gene Symbol Cd8a
Ensembl Gene ENSMUSG00000053977
Gene Name CD8 subunit alpha
Synonyms Lyt-2, Ly-B, Ly-35, Ly-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # PIT4618001 (G1)
Quality Score 205.009
Status Not validated
Chromosome 6
Chromosomal Location 71350411-71356155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71350661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 42 (D42G)
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: D42G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068123
Gene: ENSMUSG00000053977
AA Change: D42G

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 possibly damaging
Transcript: ENSMUST00000172321
AA Change: D42G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131873
Gene: ENSMUSG00000053977
AA Change: D42G

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: 93.4%
  • 3x: 91.0%
  • 10x: 85.9%
  • 20x: 75.2%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,693,575 (GRCm39) D64V probably damaging Het
Ankdd1a A C 9: 65,414,932 (GRCm39) I268S possibly damaging Het
Atad3a C T 4: 155,834,595 (GRCm39) R402Q probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Cd200l1 A G 16: 45,264,297 (GRCm39) F87S probably benign Het
Cd55 C T 1: 130,384,606 (GRCm39) V206I probably benign Het
Cemip G T 7: 83,593,147 (GRCm39) F1185L probably benign Het
Cfap58 A G 19: 47,963,953 (GRCm39) D527G probably damaging Het
Cyp2a12 C A 7: 26,734,198 (GRCm39) S377Y probably benign Het
Dapk2 A G 9: 66,175,968 (GRCm39) D289G probably benign Het
Efcab6 G A 15: 83,867,647 (GRCm39) A277V probably benign Het
Ephx2 A T 14: 66,339,671 (GRCm39) F250L probably damaging Het
Flg2 A T 3: 93,111,088 (GRCm39) S1039C unknown Het
Gramd1a A G 7: 30,832,021 (GRCm39) V674A probably benign Het
Gtf2a1 A C 12: 91,534,543 (GRCm39) V237G probably benign Het
I830077J02Rik G A 3: 105,833,886 (GRCm39) T90M probably damaging Het
Jagn1 T A 6: 113,424,398 (GRCm39) L90H probably damaging Het
Mdn1 G T 4: 32,746,527 (GRCm39) A4158S probably benign Het
Myh11 G A 16: 14,018,930 (GRCm39) A1839V Het
Olr1 G A 6: 129,476,869 (GRCm39) A132V probably damaging Het
Paqr3 A T 5: 97,251,330 (GRCm39) H131Q possibly damaging Het
Pde4b A T 4: 102,460,009 (GRCm39) T397S probably benign Het
Pon1 A G 6: 5,168,349 (GRCm39) C353R probably damaging Het
Ppie G A 4: 123,032,661 (GRCm39) T43I probably null Het
Prr5l A G 2: 101,588,875 (GRCm39) F92L probably damaging Het
Rai14 T C 15: 10,575,242 (GRCm39) Y601C probably damaging Het
Rasal1 A G 5: 120,808,441 (GRCm39) D491G probably damaging Het
Rbm12b1 T A 4: 12,145,441 (GRCm39) V471E probably damaging Het
Rpusd2 T C 2: 118,868,933 (GRCm39) L452P possibly damaging Het
Scgb2b24 A T 7: 33,438,036 (GRCm39) C24S probably damaging Het
Slc17a5 C T 9: 78,445,530 (GRCm39) V468M possibly damaging Het
Tcp10c A G 17: 13,576,772 (GRCm39) K117R possibly damaging Het
Ubash3b A G 9: 40,927,923 (GRCm39) S584P probably benign Het
Vps13b C T 15: 35,709,386 (GRCm39) R1778C probably damaging Het
Ythdc2 A G 18: 44,967,665 (GRCm39) I220M probably benign Het
Zfp474 C A 18: 52,771,476 (GRCm39) T43K probably damaging Het
Zscan4-ps3 G A 7: 11,347,261 (GRCm39) M432I 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
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
R5836:Cd8a UTSW 6 71,350,775 (GRCm39) missense possibly damaging 0.48
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'- AAAGGAGCAGTTTCCCCGAC -3'
(R):5'- ACGAATTCAGCTTCTCGTCC -3'

Sequencing Primer
(F):5'- GAGCAGTTTCCCCGACCCTAC -3'
(R):5'- CGTCCCACGTTATCTTGTTGTGG -3'
Posted On 2019-06-07