Incidental Mutation 'R3237:Cd3e'
ID 259099
Institutional Source Beutler Lab
Gene Symbol Cd3e
Ensembl Gene ENSMUSG00000032093
Gene Name CD3 antigen, epsilon polypeptide
Synonyms CD3epsilon, CD3, T3e
MMRRC Submission 040619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3237 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44910038-44920925 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 44913608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 42 (C42*)
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 null
Transcript: ENSMUST00000102832
AA Change: C42*
SMART Domains Protein: ENSMUSP00000099896
Gene: ENSMUSG00000032093
AA Change: C42*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217486
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccm2 G A 11: 6,520,090 (GRCm39) V53I probably benign Het
Cd4 A T 6: 124,844,633 (GRCm39) I384N probably benign Het
Ceacam11 T A 7: 17,707,379 (GRCm39) F54L probably benign Het
Cfap46 A G 7: 139,197,506 (GRCm39) S2122P probably damaging Het
Clptm1 A G 7: 19,369,271 (GRCm39) S461P probably damaging Het
Dlat T C 9: 50,549,331 (GRCm39) T518A possibly damaging Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Fam181a T G 12: 103,282,348 (GRCm39) C84W possibly damaging Het
Gask1a C T 9: 121,793,935 (GRCm39) P30S possibly damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Inpp5b A G 4: 124,674,279 (GRCm39) R329G probably benign Het
Klrb1f A T 6: 129,031,306 (GRCm39) I168L possibly damaging Het
Lama4 A T 10: 38,973,175 (GRCm39) I1581F probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lyzl4 T C 9: 121,413,233 (GRCm39) D65G probably benign Het
Med29 A G 7: 28,092,046 (GRCm39) probably benign Het
Myrip C A 9: 120,270,473 (GRCm39) D574E possibly damaging Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Nlrp9a A T 7: 26,270,810 (GRCm39) K892* probably null Het
Nsd1 T A 13: 55,460,701 (GRCm39) H2309Q possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Optn T C 2: 5,039,014 (GRCm39) S370G probably damaging Het
Pbrm1 T C 14: 30,754,432 (GRCm39) F151L probably damaging Het
Plekhs1 A T 19: 56,453,032 (GRCm39) probably null Het
Rpn1 A G 6: 88,080,396 (GRCm39) K565R probably benign Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr1 C T 7: 28,769,075 (GRCm39) probably null Het
Scai C T 2: 39,040,326 (GRCm39) probably benign Het
Scap C G 9: 110,208,650 (GRCm39) P564A probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Slc41a3 T C 6: 90,613,847 (GRCm39) Y226H probably benign Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Sned1 G A 1: 93,186,725 (GRCm39) R180Q probably benign Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
St8sia3 T C 18: 64,402,886 (GRCm39) F175S probably damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Syngap1 T A 17: 27,176,067 (GRCm39) Y118* probably null Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba3 G T 6: 97,163,201 (GRCm39) T319K probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zc3hav1 A G 6: 38,296,650 (GRCm39) L751S probably damaging Het
Zfp804b T C 5: 6,819,239 (GRCm39) M1275V probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably 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
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
R6404:Cd3e UTSW 9 44,912,426 (GRCm39) missense probably damaging 1.00
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'- ATACTGAATGTGTGGCCCCG -3'
(R):5'- GTCAGGACACCTCTCTACCAAG -3'

Sequencing Primer
(F):5'- AATGTGTGGCCCCGGAGAAC -3'
(R):5'- TCTCTACCAAGCAAACCTCG -3'
Posted On 2015-01-23