|Institutional Source||Beutler Lab|
|Gene Name||pre T cell antigen receptor alpha|
|Synonyms||pTalpha, pT[a], pT-alpha|
|Is this an essential gene?||Not available|
|Stock #||R4913 (G1)|
|Chromosomal Location||46755663-46763712 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46758648 bp|
|Amino Acid Change||Leucine to Proline at position 99 (L99P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035683 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041012]|
|Predicted Effect||probably damaging
AA Change: L99P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L99P
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for a knock-out allele show thymus hypoplasia, arrested T cell differentiation, decreased DN4 cell number, and increased DN3 T cell number. Homozygotes for a knock-in allele show decreased double-positive T cell count, increased DN3 number, and increased gamma-delta T cell number. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptcra||
(F):5'- TTACATGCCCAGTGCCTAC -3'
(R):5'- TCACACTGCTGGTAGATGGAAG -3'
(F):5'- GGTAGCCCATATTTATAATCCAGCAC -3'
(R):5'- CTGGTAGATGGAAGGCAGCAC -3'