Incidental Mutation 'R1530:Fbp2'
ID 166580
Institutional Source Beutler Lab
Gene Symbol Fbp2
Ensembl Gene ENSMUSG00000021456
Gene Name fructose bisphosphatase 2
Synonyms FBPase muscle, Fbp-1
MMRRC Submission 039569-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R1530 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 62984698-63006214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 62984973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 316 (P316R)
Ref Sequence ENSEMBL: ENSMUSP00000021907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021907]
AlphaFold P70695
Predicted Effect probably damaging
Transcript: ENSMUST00000021907
AA Change: P316R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: P316R

DomainStartEndE-ValueType
Pfam:FBPase 12 334 1.1e-138 PFAM
Pfam:Inositol_P 31 127 5.2e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b T C 5: 137,567,640 (GRCm39) C425R probably damaging Het
Adam15 A G 3: 89,257,137 (GRCm39) S20P probably damaging Het
Adgra3 G A 5: 50,118,479 (GRCm39) T1023I probably benign Het
Angel2 T A 1: 190,671,285 (GRCm39) V46E probably damaging Het
Ankrd13c T A 3: 157,697,358 (GRCm39) M321K probably damaging Het
Atad2b C T 12: 4,992,018 (GRCm39) R206* probably null Het
Atp10b T A 11: 43,088,351 (GRCm39) F319Y probably benign Het
AW554918 A G 18: 25,533,161 (GRCm39) R272G probably damaging Het
Bpi T A 2: 158,103,065 (GRCm39) I70N probably damaging Het
Brca1 T C 11: 101,415,521 (GRCm39) D871G probably damaging Het
Capn3 G A 2: 120,312,689 (GRCm39) A160T probably damaging Het
Cenpe T C 3: 134,952,663 (GRCm39) L1451P possibly damaging Het
Chmp7 A G 14: 69,969,937 (GRCm39) M1T probably null Het
Csrnp1 G C 9: 119,802,612 (GRCm39) Q200E possibly damaging Het
Dscam G A 16: 96,621,074 (GRCm39) P545S probably damaging Het
Erap1 A G 13: 74,794,662 (GRCm39) E107G probably benign Het
Errfi1 A G 4: 150,949,843 (GRCm39) I49V probably benign Het
Fam171b T C 2: 83,710,533 (GRCm39) L735S probably damaging Het
Fancm T A 12: 65,139,264 (GRCm39) probably null Het
Fcer2a C A 8: 3,732,976 (GRCm39) G255V probably damaging Het
Fhip2a T A 19: 57,374,737 (GRCm39) I704N probably damaging Het
Fzd2 T C 11: 102,496,134 (GRCm39) S193P probably benign Het
Gak A G 5: 108,772,059 (GRCm39) V86A probably damaging Het
Gas2l3 A G 10: 89,269,631 (GRCm39) I7T probably benign Het
Gbp11 T C 5: 105,475,355 (GRCm39) H331R probably damaging Het
Gpr19 C T 6: 134,846,961 (GRCm39) V241M probably damaging Het
Grk6 G A 13: 55,606,612 (GRCm39) A437T probably damaging Het
Hip1 T C 5: 135,473,634 (GRCm39) D253G probably damaging Het
Ifna9 G C 4: 88,510,409 (GRCm39) Q72E possibly damaging Het
Il1r1 A G 1: 40,351,521 (GRCm39) T384A probably benign Het
Ip6k1 C A 9: 107,922,761 (GRCm39) C221* probably null Het
Kcna1 C A 6: 126,619,494 (GRCm39) E275D probably benign Het
Kcnt2 C T 1: 140,411,970 (GRCm39) Q468* probably null Het
Kin T C 2: 10,097,150 (GRCm39) V333A probably damaging Het
Leprot G T 4: 101,513,484 (GRCm39) V91L probably benign Het
Mettl21c A G 1: 44,056,344 (GRCm39) probably null Het
Myom2 T C 8: 15,172,384 (GRCm39) F1161S probably damaging Het
Ndor1 A G 2: 25,138,921 (GRCm39) L321P probably benign Het
Nipal2 A T 15: 34,625,168 (GRCm39) *72K probably null Het
Nol3 T C 8: 106,005,858 (GRCm39) V84A probably benign Het
Or2y16 C T 11: 49,334,732 (GRCm39) S18L probably benign Het
Or4c101 A T 2: 88,389,827 (GRCm39) I5F probably benign Het
Or8b42 T C 9: 38,341,620 (GRCm39) I14T probably damaging Het
Pcare A G 17: 72,056,473 (GRCm39) V1068A probably benign Het
Pdgfra T A 5: 75,349,671 (GRCm39) probably null Het
Pik3cb T C 9: 98,936,026 (GRCm39) D802G probably damaging Het
Plac8l1 A T 18: 42,311,996 (GRCm39) V141E probably damaging Het
Plxnb2 A G 15: 89,051,395 (GRCm39) S275P probably benign Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rapgef6 T A 11: 54,552,009 (GRCm39) I959K probably damaging Het
Scn5a T C 9: 119,324,628 (GRCm39) K1400R probably damaging Het
Sel1l A G 12: 91,793,458 (GRCm39) S263P probably damaging Het
Setd5 G A 6: 113,086,874 (GRCm39) V34I probably damaging Het
Slc34a1 A G 13: 24,003,052 (GRCm39) D234G probably damaging Het
Spink5 T A 18: 44,148,738 (GRCm39) S934T probably damaging Het
St18 A C 1: 6,915,793 (GRCm39) probably null Het
St3gal4 T C 9: 34,963,592 (GRCm39) I239V probably benign Het
Stag3 C T 5: 138,295,674 (GRCm39) T399I probably damaging Het
Syt11 T C 3: 88,669,674 (GRCm39) K6E probably damaging Het
Taf15 T C 11: 83,378,122 (GRCm39) Y121H possibly damaging Het
Tdh T C 14: 63,733,504 (GRCm39) Y113C probably damaging Het
Tgfbr1 T A 4: 47,410,688 (GRCm39) W406R probably damaging Het
Tgm6 A G 2: 129,993,202 (GRCm39) I563V possibly damaging Het
Tmem131 A G 1: 36,866,090 (GRCm39) probably null Het
Tmub2 T C 11: 102,178,312 (GRCm39) S72P probably benign Het
Trappc13 G A 13: 104,286,651 (GRCm39) T202I probably damaging Het
Trim9 T C 12: 70,319,202 (GRCm39) E449G probably damaging Het
Trip11 C A 12: 101,879,026 (GRCm39) G21V unknown Het
Ttll12 G A 15: 83,472,856 (GRCm39) R127C probably damaging Het
Vmn2r125 A T 4: 156,703,447 (GRCm39) Y275F probably damaging Het
Xrcc5 A G 1: 72,369,103 (GRCm39) D319G probably damaging Het
Zc3h14 T G 12: 98,751,262 (GRCm39) C159W probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfhx3 C T 8: 109,675,121 (GRCm39) P2057L probably damaging Het
Other mutations in Fbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Fbp2 APN 13 62,989,698 (GRCm39) missense possibly damaging 0.90
IGL01284:Fbp2 APN 13 62,988,099 (GRCm39) missense probably benign 0.32
R0020:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0062:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0063:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0064:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0064:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0218:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0219:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R0241:Fbp2 UTSW 13 63,001,862 (GRCm39) missense probably damaging 1.00
R2069:Fbp2 UTSW 13 63,001,875 (GRCm39) missense possibly damaging 0.68
R2091:Fbp2 UTSW 13 63,006,021 (GRCm39) missense probably damaging 0.99
R2192:Fbp2 UTSW 13 63,006,056 (GRCm39) missense possibly damaging 0.88
R3943:Fbp2 UTSW 13 62,989,607 (GRCm39) missense possibly damaging 0.66
R4092:Fbp2 UTSW 13 62,988,174 (GRCm39) missense possibly damaging 0.94
R4124:Fbp2 UTSW 13 63,002,755 (GRCm39) missense probably damaging 1.00
R4508:Fbp2 UTSW 13 62,989,679 (GRCm39) missense probably damaging 0.96
R4841:Fbp2 UTSW 13 63,002,727 (GRCm39) missense probably benign 0.29
R5576:Fbp2 UTSW 13 62,985,005 (GRCm39) missense probably benign 0.00
R5893:Fbp2 UTSW 13 62,984,916 (GRCm39) missense probably benign 0.03
R6989:Fbp2 UTSW 13 63,005,991 (GRCm39) missense probably damaging 0.99
R7156:Fbp2 UTSW 13 62,989,675 (GRCm39) missense probably benign 0.02
R7340:Fbp2 UTSW 13 62,985,061 (GRCm39) missense probably damaging 0.98
R7366:Fbp2 UTSW 13 62,985,012 (GRCm39) missense possibly damaging 0.90
R7413:Fbp2 UTSW 13 62,985,067 (GRCm39) missense probably benign 0.00
R8855:Fbp2 UTSW 13 62,989,709 (GRCm39) missense probably benign 0.00
R8866:Fbp2 UTSW 13 62,989,709 (GRCm39) missense probably benign 0.00
R9136:Fbp2 UTSW 13 63,002,840 (GRCm39) missense possibly damaging 0.90
R9233:Fbp2 UTSW 13 62,989,622 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- AGGGAAAGGCTCAGCATTTCATAGC -3'
(R):5'- GGATTCACACAGACAGCTCAGCAG -3'

Sequencing Primer
(F):5'- GTTGTTCATGACAGAAGACCC -3'
(R):5'- AGACAGCTCAGCAGTTCAC -3'
Posted On 2014-04-13