|Institutional Source||Beutler Lab|
|Gene Name||PTK7 protein tyrosine kinase 7|
|Synonyms||8430404F20Rik, mPTK7/CCK4, chz|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3824 (G1)|
|Chromosomal Location||46564451-46629504 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46565378 bp|
|Amino Acid Change||Isoleucine to Threonine at position 1049 (I1049T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043703 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044442]|
|Predicted Effect||probably damaging
AA Change: I1049T
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: I1049T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5553|
|Coding Region Coverage||
|Validation Efficiency||95% (62/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die perinatally with defects in neural tube closure and planar cell polarity in the ear. ENU-induced mutant mice show omphalocele, impaired neural tube, heart and lung development, rib defects, polydactyly, failed eyelid closure and altered cell polarity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptk7||
(F):5'- CTGCCAGTCTTCAGCAATGC -3'
(R):5'- GTCCCTGAGAGAATACCATGG -3'
(F):5'- CAATGCCTGCTGTGCTTG -3'
(R):5'- TCAATCCCCAGCAGGTATTG -3'