|Institutional Source||Beutler Lab|
|Gene Name||lemur tyrosine kinase 2|
|Synonyms||AATYK2, A330101P12Rik, KPI2, cprk, KPI-2, 2900041G10Rik, BREK|
|Is this an essential gene?||Possibly non essential (E-score: 0.480)|
|Stock #||R6544 (G1)|
|Chromosomal Location||144100436-144188204 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 144173806 bp|
|Amino Acid Change||Histidine to Arginine at position 448 (H448R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048238 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041804]|
|Predicted Effect||possibly damaging
AA Change: H448R
PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: H448R
|Meta Mutation Damage Score||0.0959|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lmtk2||
(F):5'- TTGTTAACGTCCCCTGTGTG -3'
(R):5'- TCCACTGGGAAGAACATGCTG -3'
(F):5'- CAGGTACGAAGTGCTGCAGTTC -3'
(R):5'- CTGGAGTAAGACAGGGCTTCATCTG -3'