Incidental Mutation 'R6404:Cd3e'
ID 518896
Institutional Source Beutler Lab
Gene Symbol Cd3e
Ensembl Gene ENSMUSG00000032093
Gene Name CD3 antigen, epsilon polypeptide
Synonyms CD3epsilon, CD3, T3e
MMRRC Submission 044549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6404 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44910038-44920925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44912426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 106 (E106V)
Ref Sequence ENSEMBL: ENSMUSP00000099896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102832]
AlphaFold P22646
PDB Structure CD3 Epsilon and gamma Ectodomain Fragment Complex in Single-Chain Construct [SOLUTION NMR]
CD3 EPSILON AND DELTA ECTODOMAIN FRAGMENT COMPLEX IN SINGLE-CHAIN CONSTRUCT [SOLUTION NMR]
Mouse CD3epsilon Cytoplasmic Tail [SOLUTION NMR]
Crystal structure of mouse cd3epsilon in complex with antibody 2C11 Fab [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000102832
AA Change: E106V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099896
Gene: ENSMUSG00000032093
AA Change: E106V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 33 90 3.79e-13 SMART
transmembrane domain 111 133 N/A INTRINSIC
ITAM 167 187 2.96e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214762
Meta Mutation Damage Score 0.7763 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (40/41)
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 the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous null for this mutation lack peripherial T cells and have a block of thymocyte development at the DN3 stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,484,892 (GRCm39) D1540G probably benign Het
Adamts7 A T 9: 90,062,509 (GRCm39) probably null Het
Apol10a C A 15: 77,373,241 (GRCm39) F292L probably benign Het
Atp13a4 A T 16: 29,290,719 (GRCm39) Y243* probably null Het
Cc2d2a A G 5: 43,861,416 (GRCm39) N660D possibly damaging Het
Ccdc57 T C 11: 120,785,538 (GRCm39) T466A probably benign Het
Ccdc74a A T 16: 17,467,889 (GRCm39) N249Y possibly damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Csmd2 T C 4: 128,415,743 (GRCm39) Y2691H possibly damaging Het
Dmxl2 T C 9: 54,282,820 (GRCm39) R2786G probably damaging Het
Dpyd A G 3: 119,059,606 (GRCm39) T768A probably benign Het
Endou T A 15: 97,610,012 (GRCm39) Q428L probably damaging Het
Fam13c T C 10: 70,284,646 (GRCm39) probably null Het
Fhip1b G A 7: 105,034,198 (GRCm39) R478* probably null Het
Frmd5 G A 2: 121,379,699 (GRCm39) R70* probably null Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm4131 T A 14: 62,718,598 (GRCm39) R3* probably null Het
Habp4 A G 13: 64,330,000 (GRCm39) T302A possibly damaging Het
Ift81 A T 5: 122,749,069 (GRCm39) D27E probably damaging Het
Iqcf3 T C 9: 106,430,083 (GRCm39) I107V probably benign Het
Iqgap2 A G 13: 95,865,985 (GRCm39) I298T probably benign Het
Lilrb4b A G 10: 51,361,825 (GRCm39) D199G probably damaging Het
Lsm8 C T 6: 18,848,739 (GRCm39) S3F possibly damaging Het
Meox1 T C 11: 101,769,482 (GRCm39) E238G probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Neb T C 2: 52,097,737 (GRCm39) Y901C probably damaging Het
Nfat5 A G 8: 108,097,220 (GRCm39) M121V probably benign Het
Notch2 G A 3: 97,989,314 (GRCm39) G278D probably damaging Het
Or4c121 T C 2: 89,023,906 (GRCm39) I157M probably damaging Het
Pbld2 T A 10: 62,890,107 (GRCm39) S172T probably damaging Het
Pla2g7 T A 17: 43,905,688 (GRCm39) Y83N probably damaging Het
Plxnb1 A T 9: 108,945,705 (GRCm39) I2079F probably damaging Het
Rara T C 11: 98,851,839 (GRCm39) F17L probably benign Het
Skint5 G A 4: 113,799,806 (GRCm39) T121I probably damaging Het
Slco6c1 T C 1: 97,046,330 (GRCm39) Y251C probably damaging Het
Slmap T A 14: 26,143,566 (GRCm39) probably null Het
Uba2 A T 7: 33,853,985 (GRCm39) L319Q probably damaging Het
Vmn2r96 A T 17: 18,817,793 (GRCm39) I457F probably damaging Het
Zfp57 A T 17: 37,320,716 (GRCm39) H190L probably damaging Het
Zfp738 A G 13: 67,819,179 (GRCm39) S271P possibly damaging Het
Zp2 A T 7: 119,734,765 (GRCm39) H474Q possibly damaging Het
Other mutations in Cd3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
cadence UTSW 9 44,912,426 (GRCm39) missense probably damaging 1.00
tumormouse UTSW 9 45,006,150 (GRCm38) intron probably benign
R0504:Cd3e UTSW 9 44,913,552 (GRCm39) missense probably benign
R3237:Cd3e UTSW 9 44,913,608 (GRCm39) nonsense probably null
R6054:Cd3e UTSW 9 44,913,459 (GRCm39) missense possibly damaging 0.87
R6374:Cd3e UTSW 9 44,920,661 (GRCm39) missense probably benign 0.41
R6701:Cd3e UTSW 9 44,912,351 (GRCm39) missense probably damaging 1.00
R7403:Cd3e UTSW 9 44,913,590 (GRCm39) missense probably benign 0.00
X0025:Cd3e UTSW 9 44,912,274 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GAATCTGCTGTAGACTTGGTGC -3'
(R):5'- TCCTCATTGGACACCACTGC -3'

Sequencing Primer
(F):5'- AGGCTAGATGTCTCCTGACC -3'
(R):5'- CCACTGCAGGAAAGACTCTGG -3'
Posted On 2018-05-24