|Institutional Source||Beutler Lab|
|Gene Name||CD3 antigen, delta polypeptide|
|Is this an essential gene?||Probably non essential (E-score: 0.163)|
|Stock #||R6362 (G1)|
|Chromosomal Location||44981786-44987339 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 44986291 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 157 (D157N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034602 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034602] [ENSMUST00000214715]|
|Predicted Effect||probably damaging
AA Change: D157N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D157N
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired early thymic development, small numbers of peripheral TCR-alpha/beta+ T cells, and failure of T lymphocyte transition from double-positive to single-positive developmental stages. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd3d||
(F):5'- AGGTTCAAGCACTGCTGAAG -3'
(R):5'- AGACAACTCTCAATCCATGCTTTG -3'
(F):5'- AGCAGCTGTATCAGGTAAGCCC -3'
(R):5'- CATGCTTTGGAAAACACAGGC -3'