|Institutional Source||Beutler Lab|
|Gene Name||fer (fms/fps related) protein kinase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5724 (G1)|
|Chromosomal Location||63896018-64139494 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 63924157 bp|
|Amino Acid Change||Threonine to Lysine at position 301 (T301K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000129]|
|Predicted Effect||probably damaging
AA Change: T301K
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: T301K
|Meta Mutation Damage Score||0.172|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit elevated lipopolysaccharide-induced leukocyte adhesion and migration. Mutant cells also exhibit reduced phosphorylation of cortactin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fer||
(F):5'- CCTTTGGTATGCACTGCGA -3'
(R):5'- CAAAATGACTCTGCCACTAAGTACT -3'
(F):5'- TGCACTGCGATAGATTATGCTAG -3'
(R):5'- CTATGTTCCCAGCACTGAGAGTAG -3'