|Institutional Source||Beutler Lab|
|Gene Name||tyrosine kinase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7759 (G1)|
|Chromosomal Location||21104068-21131243 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 21120258 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000150354 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000214864] [ENSMUST00000216874]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tyk2||
(F):5'- ACACAGCTAGACACTCGGTG -3'
(R):5'- AACAAGTGCTTGGTGGGAGC -3'
(F):5'- CTAGACACTCGGTGGGCAAG -3'
(R):5'- ATGAGTCCTGCTGAGCGC -3'