|Institutional Source||Beutler Lab|
|Gene Name||fructosamine 3 kinase related protein|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R5162 (G1)|
|Chromosomal Location||121421401-121431288 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 121429584 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 252 (F252L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038061 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038096]|
|Predicted Effect||probably damaging
AA Change: F252L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: F252L
|Meta Mutation Damage Score||0.512|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fn3krp||
(F):5'- TTACACCTCCGTATGGTTGGC -3'
(R):5'- AGCCAGTTCATTTGCTGAGATTC -3'
(F):5'- GGCCACTTTGTTTAAGGCTC -3'
(R):5'- CCTCATTATGTTTAGAGAGGATCCC -3'