Incidental Mutation 'R6230:Fn3krp'
ID 504631
Institutional Source Beutler Lab
Gene Symbol Fn3krp
Ensembl Gene ENSMUSG00000039253
Gene Name fructosamine 3 kinase related protein
Synonyms
MMRRC Submission 044359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6230 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 121312227-121322114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121316418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 111 (H111N)
Ref Sequence ENSEMBL: ENSMUSP00000038061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038096]
AlphaFold Q8K274
Predicted Effect probably damaging
Transcript: ENSMUST00000038096
AA Change: H111N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038061
Gene: ENSMUSG00000039253
AA Change: H111N

DomainStartEndE-ValueType
Pfam:Fructosamin_kin 1 309 6e-81 PFAM
Pfam:APH 22 267 1.5e-12 PFAM
Meta Mutation Damage Score 0.8866 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.1%
Validation Efficiency 100% (49/49)
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
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,024,452 (GRCm39) T948A probably benign Het
Arhgef12 T C 9: 42,900,261 (GRCm39) I871V probably benign Het
Atf1 T C 15: 100,130,705 (GRCm39) V25A possibly damaging Het
Atp23 G A 10: 126,723,431 (GRCm39) H224Y probably benign Het
Ccpg1 A G 9: 72,919,638 (GRCm39) T418A probably benign Het
Col27a1 T C 4: 63,142,519 (GRCm39) I69T probably damaging Het
Cspp1 T C 1: 10,147,422 (GRCm39) S328P probably benign Het
Cttnbp2nl C T 3: 104,918,655 (GRCm39) E62K probably damaging Het
Cyp2c39 T C 19: 39,525,246 (GRCm39) F183S probably damaging Het
Dync2li1 T C 17: 84,955,078 (GRCm39) S246P probably damaging Het
Ext2 A G 2: 93,592,965 (GRCm39) I413T probably damaging Het
Fam174a T C 1: 95,241,951 (GRCm39) V137A probably damaging Het
Flg T A 3: 93,186,782 (GRCm39) V78E probably damaging Het
Focad T C 4: 88,260,441 (GRCm39) I899T unknown Het
Foxq1 T C 13: 31,743,491 (GRCm39) Y198H probably damaging Het
Gm21060 A T 19: 61,285,449 (GRCm39) M20K probably benign Het
Kif16b A T 2: 142,691,832 (GRCm39) N217K probably damaging Het
Klkb1 A G 8: 45,736,252 (GRCm39) Y162H probably benign Het
Kntc1 T A 5: 123,927,072 (GRCm39) probably null Het
Madd C T 2: 90,973,866 (GRCm39) probably null Het
Mast2 T A 4: 116,183,295 (GRCm39) H258L probably damaging Het
Musk T C 4: 58,367,576 (GRCm39) V598A probably damaging Het
Nexn T A 3: 151,943,912 (GRCm39) Q539L probably damaging Het
Nf2 T C 11: 4,758,262 (GRCm39) K130E possibly damaging Het
Nlrp14 A T 7: 106,781,024 (GRCm39) I74F probably benign Het
Omg T C 11: 79,393,784 (GRCm39) I25V probably benign Het
Or56b35 A G 7: 104,963,289 (GRCm39) H26R possibly damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Parp4 A G 14: 56,844,990 (GRCm39) D627G probably damaging Het
Pdia6 A G 12: 17,327,214 (GRCm39) E126G probably benign Het
Ppp1r2 T A 16: 31,079,418 (GRCm39) D127V possibly damaging Het
Pramel17 T A 4: 101,694,411 (GRCm39) E157D probably damaging Het
Rgs22 A G 15: 36,100,176 (GRCm39) S304P probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr2 T C 13: 11,674,993 (GRCm39) Y3378C probably damaging Het
Shoc1 T C 4: 59,099,345 (GRCm39) N116D probably benign Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smurf2 T C 11: 106,759,330 (GRCm39) probably null Het
Tanc1 T C 2: 59,672,375 (GRCm39) F1348L probably damaging Het
Tars3 A T 7: 65,336,184 (GRCm39) probably null Het
Tmem213 A T 6: 38,091,551 (GRCm39) S52C probably damaging Het
Ttn T C 2: 76,749,778 (GRCm39) D3757G probably benign Het
Usp16 C T 16: 87,261,686 (GRCm39) P101S possibly damaging Het
Usp19 G A 9: 108,379,140 (GRCm39) M1318I probably damaging Het
Vmn1r75 G A 7: 11,614,966 (GRCm39) A233T probably damaging Het
Vsir A T 10: 60,193,857 (GRCm39) N107Y probably damaging Het
Zfp160 T C 17: 21,246,707 (GRCm39) V419A probably benign Het
Zfp808 A T 13: 62,320,136 (GRCm39) H455L probably benign Het
Other mutations in Fn3krp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Fn3krp APN 11 121,312,380 (GRCm39) missense probably damaging 1.00
IGL01633:Fn3krp APN 11 121,320,533 (GRCm39) nonsense probably null
IGL02123:Fn3krp APN 11 121,320,270 (GRCm39) missense probably benign 0.00
IGL03189:Fn3krp APN 11 121,320,456 (GRCm39) missense probably damaging 1.00
R0278:Fn3krp UTSW 11 121,312,406 (GRCm39) missense probably damaging 1.00
R1927:Fn3krp UTSW 11 121,315,803 (GRCm39) missense probably damaging 0.99
R3744:Fn3krp UTSW 11 121,317,531 (GRCm39) critical splice donor site probably null
R4471:Fn3krp UTSW 11 121,317,499 (GRCm39) missense probably benign 0.01
R4850:Fn3krp UTSW 11 121,315,879 (GRCm39) missense possibly damaging 0.56
R5027:Fn3krp UTSW 11 121,320,274 (GRCm39) missense probably benign 0.01
R5162:Fn3krp UTSW 11 121,320,410 (GRCm39) missense probably damaging 1.00
R5444:Fn3krp UTSW 11 121,312,430 (GRCm39) critical splice donor site probably null
R7183:Fn3krp UTSW 11 121,312,431 (GRCm39) critical splice donor site probably null
R8802:Fn3krp UTSW 11 121,315,813 (GRCm39) missense probably damaging 0.99
R9765:Fn3krp UTSW 11 121,312,304 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- AGGATTCCTGTTGTGTGCCAC -3'
(R):5'- GGATGCACTGTACCAATCATACCC -3'

Sequencing Primer
(F):5'- GTTGTGTGCCACCACCC -3'
(R):5'- GCTCACTGCACTGCAAATGTG -3'
Posted On 2018-02-28