Incidental Mutation 'IGL00510:Fbp2'
ID4294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbp2
Ensembl Gene ENSMUSG00000021456
Gene Namefructose bisphosphatase 2
SynonymsFbp-1, FBPase muscle
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.275) question?
Stock #IGL00510
Quality Score
Status
Chromosome13
Chromosomal Location62836877-62858422 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62841884 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 203 (I203V)
Ref Sequence ENSEMBL: ENSMUSP00000021907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021907]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021907
AA Change: I203V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: I203V

DomainStartEndE-ValueType
Pfam:FBPase 12 334 1.1e-138 PFAM
Pfam:Inositol_P 31 127 5.2e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus controls electrophoretic variation of fructose bisphosphatase isozymes in muscle. Isozymes of kidney, liver and testis are not affected. P, SEA, SWR and Peru-Coppock have a slow migrating band; SM, C3H/He, C57BL/Go, CE and DBA/2 have a fast migrating band. Heterozygotes are intermediate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,289,907 N357S probably damaging Het
Akap4 A G X: 7,076,624 T389A probably damaging Het
Aldh3a1 A G 11: 61,213,596 E103G probably damaging Het
Aldh3b3 C A 19: 3,965,863 Q278K probably benign Het
Ap3m2 A T 8: 22,797,227 probably null Het
Asxl3 G T 18: 22,523,565 C1544F probably damaging Het
Chd7 A G 4: 8,801,404 D716G probably damaging Het
Dennd1b G T 1: 139,102,071 R322L probably damaging Het
Dnah7a C T 1: 53,501,542 V2558M probably damaging Het
Gnai1 T A 5: 18,291,619 D102V probably benign Het
Gtf2h1 C T 7: 46,819,210 T524I possibly damaging Het
Hinfp G A 9: 44,297,766 R352C probably damaging Het
Lpin1 G A 12: 16,553,992 H613Y probably benign Het
Med29 C T 7: 28,390,841 A110T possibly damaging Het
Myo9a T C 9: 59,832,181 probably benign Het
Nlgn1 G T 3: 25,436,490 P329T probably benign Het
Osmr G T 15: 6,823,631 Y593* probably null Het
Otx2 T C 14: 48,658,735 T289A probably benign Het
Pkn2 T C 3: 142,799,019 T799A probably damaging Het
Plcb1 T A 2: 135,251,756 V163D possibly damaging Het
Rgs3 G A 4: 62,701,180 A501T possibly damaging Het
Rnf103 T C 6: 71,509,749 S455P probably damaging Het
Slc9c1 A G 16: 45,539,639 T19A probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spryd7 T A 14: 61,545,741 N111Y probably damaging Het
Zfp687 A G 3: 95,008,447 S1005P probably damaging Het
Other mutations in Fbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Fbp2 APN 13 62840285 missense probably benign 0.32
R0020:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0062:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0063:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0064:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0064:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0218:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0219:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R0241:Fbp2 UTSW 13 62854048 missense probably damaging 1.00
R1530:Fbp2 UTSW 13 62837159 missense probably damaging 1.00
R2069:Fbp2 UTSW 13 62854061 missense possibly damaging 0.68
R2091:Fbp2 UTSW 13 62858207 missense probably damaging 0.99
R2192:Fbp2 UTSW 13 62858242 missense possibly damaging 0.88
R3943:Fbp2 UTSW 13 62841793 missense possibly damaging 0.66
R4092:Fbp2 UTSW 13 62840360 missense possibly damaging 0.94
R4124:Fbp2 UTSW 13 62854941 missense probably damaging 1.00
R4508:Fbp2 UTSW 13 62841865 missense probably damaging 0.96
R4841:Fbp2 UTSW 13 62854913 missense probably benign 0.29
R5576:Fbp2 UTSW 13 62837191 missense probably benign 0.00
R5893:Fbp2 UTSW 13 62837102 missense probably benign 0.03
R6989:Fbp2 UTSW 13 62858177 missense probably damaging 0.99
R7156:Fbp2 UTSW 13 62841861 missense probably benign 0.02
R7340:Fbp2 UTSW 13 62837247 missense probably damaging 0.98
R7366:Fbp2 UTSW 13 62837198 missense possibly damaging 0.90
R7413:Fbp2 UTSW 13 62837253 missense probably benign 0.00
Posted On2012-04-20