|Institutional Source||Beutler Lab|
|Gene Name||lymphocyte cytosolic protein 2|
|Synonyms||twm, SLP76, SLP-76|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0281 (G1)|
|Chromosomal Location||34046920-34092295 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 34069854 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000104952 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052413] [ENSMUST00000109329]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (104/106)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]
PHENOTYPE: T cell development is blocked and T cell receptor signaling impaired in homozygous point mutants. Double positive thymocyte and single positive T cell numbers are much reduced. Both positive and negative thymocyte selection is abnormal. Mice have high IgG and IgE levels and exhibit autoimmunity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lcp2||
(F):5'- CCAGTCTTGAAAGACCCAAGTCCAG -3'
(R):5'- TGATGGTGGCTTAACTCCATGACG -3'
(F):5'- tctcttaacgatcccattaccc -3'
(R):5'- gctgagtagtagagagagaaacc -3'