|Institutional Source||Beutler Lab|
|Gene Name||fer (fms/fps related) protein kinase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5936 (G1)|
|Chromosomal Location||63896018-64139494 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 63924063 bp|
|Amino Acid Change||Threonine to Serine at position 270 (T270S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000129]|
|Predicted Effect||probably benign
AA Change: T270S
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T270S
|Meta Mutation Damage Score||0.0579|
|Coding Region Coverage||
|Validation Efficiency||91% (77/85)|
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'- GTCACCAGTTACTGTCACTTGC -3'
(R):5'- GTAGGGCAATAACAGCACTCAC -3'
(F):5'- GGATGACTAAGGTGTATGCATATTC -3'
(R):5'- GTGCACAGTTCTGACTGT -3'