|Institutional Source||Beutler Lab|
|Gene Name||fibroblast growth factor receptor 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4255 (G1)|
|Chromosomal Location||55152640-55168759 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 55166251 bp|
|Amino Acid Change||Valine to Methionine at position 593 (V593M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005452 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005452]|
|Predicted Effect||probably damaging
AA Change: V593M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V593M
|Meta Mutation Damage Score||0.9088|
|Coding Region Coverage||
|Validation Efficiency||93% (50/54)|
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 fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation are viable, healthy and overtly normal, except for a 10% weight reduction at weaning. Mice doubly homozygous for disruptions of Fgfr3 and Fgfr4 show novel phenotypes not seen in either single mutant, including dwarfismand defective respiratory alveogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fgfr4||
(F):5'- GAATCAGATGCGCAGTTGGG -3'
(R):5'- CAGGGTTAGCTGCAAATGTATGG -3'
(F):5'- GGATGCAAAGGACCACTCTTGC -3'
(R):5'- TTAGCTGCAAATGTATGGGAATG -3'