|Institutional Source||Beutler Lab|
|Gene Name||PTK6 protein tyrosine kinase 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5806 (G1)|
|Chromosomal Location||181193721-181202789 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 181199730 bp|
|Amino Acid Change||Isoleucine to Valine at position 129 (I129V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016511 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016511]|
|Predicted Effect||possibly damaging
AA Change: I129V
PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: I129V
|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 cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptk6||
(F):5'- CTGGGCAACTATGTCACAGAG -3'
(R):5'- TGGCCTATGTGTCATGGAAGC -3'
(F):5'- CTATGTCACAGAGGAGCCAGTG -3'
(R):5'- CTTGTGGCCTAATACCCTAGGAG -3'