|Institutional Source||Beutler Lab|
|Gene Name||PTK2 protein tyrosine kinase 2|
|Synonyms||FRNK, FAK, Fadk|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4594 (G1)|
|Chromosomal Location||73205102-73423280 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 73206196 bp|
|Amino Acid Change||Alanine to Valine at position 1004 (A1004V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105663 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110036] [ENSMUST00000226988]|
|Predicted Effect||probably damaging
AA Change: A1004V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A1004V
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: A1007V
PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|Meta Mutation Damage Score||0.8326|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene, but the full-length natures of only four of them have been determined. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele die before or during organogenesis with growth retardation, abnormal embryonic and extra embryonic tissue development, and abnormal vascular development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptk2||
(F):5'- TGGTGGAATGCTAGAGAAGATCTC -3'
(R):5'- ACTTCTAAGGAAAGTTTCTTCCAGG -3'
(F):5'- CTAGAGAAGATCTCCCAAAGGGC -3'
(R):5'- GCTCAAAGACAGACTCAG -3'