Incidental Mutation 'R5656:Fbp1'
ID 442348
Institutional Source Beutler Lab
Gene Symbol Fbp1
Ensembl Gene ENSMUSG00000069805
Gene Name fructose bisphosphatase 1
Synonyms Fbp-2, FBPase brain isoform, Fbp3, FBPase liver
MMRRC Submission 043302-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R5656 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 62864753-62888282 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 62875196 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 96 (V96L)
Ref Sequence ENSEMBL: ENSMUSP00000090564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092888] [ENSMUST00000134814] [ENSMUST00000150013]
AlphaFold Q9QXD6
Predicted Effect probably damaging
Transcript: ENSMUST00000092888
AA Change: V96L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: V96L

DomainStartEndE-ValueType
Pfam:FBPase 12 334 7.3e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134814
SMART Domains Protein: ENSMUSP00000115703
Gene: ENSMUSG00000069805

DomainStartEndE-ValueType
Pfam:FBPase 12 57 3.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150013
SMART Domains Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805

DomainStartEndE-ValueType
Pfam:FBPase 1 71 5.3e-35 PFAM
Pfam:FBPase 70 130 2.7e-26 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 105,709,512 (GRCm38) S139G probably benign Het
Adrb3 T C 8: 27,227,377 (GRCm38) D348G probably damaging Het
Atg2b A G 12: 105,621,328 (GRCm38) V1959A probably benign Het
Bicral G A 17: 46,808,369 (GRCm38) T742M probably damaging Het
Bub1b T A 2: 118,605,431 (GRCm38) I60N probably damaging Het
Ccdc162 A G 10: 41,569,934 (GRCm38) V414A probably benign Het
Cd22 T G 7: 30,869,773 (GRCm38) Y612S probably damaging Het
Cd68 T A 11: 69,664,421 (GRCm38) I320F probably damaging Het
Clca3a2 A T 3: 144,797,632 (GRCm38) N852K probably benign Het
Cpa6 T A 1: 10,329,514 (GRCm38) H363L probably benign Het
Ddx18 A T 1: 121,561,358 (GRCm38) L320Q probably damaging Het
Dnah5 A G 15: 28,421,064 (GRCm38) D3849G probably benign Het
Eci1 T A 17: 24,437,309 (GRCm38) N164K probably damaging Het
Efs T C 14: 54,917,127 (GRCm38) T552A probably damaging Het
Gtf3c1 T A 7: 125,662,654 (GRCm38) N1139I probably benign Het
Gucy1b2 T C 14: 62,422,981 (GRCm38) Y152C probably damaging Het
Gxylt1 A T 15: 93,245,661 (GRCm38) L362Q probably damaging Het
Iqcd A G 5: 120,605,126 (GRCm38) probably null Het
Klhl41 T A 2: 69,683,532 (GRCm38) I585N possibly damaging Het
Map6 A G 7: 99,336,298 (GRCm38) K470E probably damaging Het
Mast3 T C 8: 70,786,221 (GRCm38) T496A probably damaging Het
Mbd6 A T 10: 127,285,286 (GRCm38) probably benign Het
Melk A G 4: 44,312,237 (GRCm38) K183R possibly damaging Het
Mta1 T C 12: 113,123,139 (GRCm38) V152A probably damaging Het
Naa35 G A 13: 59,622,866 (GRCm38) probably benign Het
Nav3 A C 10: 109,764,633 (GRCm38) S1378A probably damaging Het
Ncapd3 T A 9: 27,051,645 (GRCm38) D415E possibly damaging Het
Nlrp4f G A 13: 65,190,871 (GRCm38) R651* probably null Het
Or1e1f T A 11: 73,964,710 (GRCm38) M34K probably damaging Het
Or5b121 A G 19: 13,530,380 (GRCm38) T280A probably benign Het
Or5p72 A G 7: 108,422,618 (GRCm38) I16V probably benign Het
P2rx7 A T 5: 122,673,717 (GRCm38) R364W probably damaging Het
Phactr2 T C 10: 13,388,703 (GRCm38) D2G probably benign Het
Phc3 G T 3: 30,965,866 (GRCm38) S28R probably damaging Het
Ppfia1 A T 7: 144,519,974 (GRCm38) probably null Het
Prdm10 C T 9: 31,353,417 (GRCm38) T667M probably benign Het
Pwwp2b T A 7: 139,255,971 (GRCm38) S443T possibly damaging Het
Pzp T C 6: 128,490,072 (GRCm38) T1113A probably damaging Het
Rapgef6 A G 11: 54,636,136 (GRCm38) E551G possibly damaging Het
Sec23ip A G 7: 128,776,784 (GRCm38) Y774C probably damaging Het
Setdb2 T C 14: 59,419,118 (GRCm38) D266G probably damaging Het
Shank1 T C 7: 44,352,886 (GRCm38) V1343A probably benign Het
Slf2 T A 19: 44,973,235 (GRCm38) D1064E probably benign Het
Slu7 A G 11: 43,443,418 (GRCm38) K424E probably benign Het
Smg1 A T 7: 118,154,664 (GRCm38) probably benign Het
Sptlc2 A T 12: 87,346,761 (GRCm38) L264Q probably damaging Het
Sra1 A G 18: 36,678,407 (GRCm38) S93P probably damaging Het
Sult1c2 T C 17: 53,964,652 (GRCm38) E169G probably benign Het
Sv2a A G 3: 96,185,572 (GRCm38) D196G probably damaging Het
Tbc1d22b A G 17: 29,594,780 (GRCm38) I362M probably damaging Het
Tenm3 T C 8: 48,228,762 (GRCm38) D2611G probably damaging Het
Tmem43 T C 6: 91,480,708 (GRCm38) F191L probably benign Het
Trbv13-2 T A 6: 41,121,694 (GRCm38) Y68N probably benign Het
Ttn T G 2: 76,774,654 (GRCm38) D18312A possibly damaging Het
Ublcp1 A G 11: 44,465,606 (GRCm38) V95A probably damaging Het
Usp17ld A G 7: 103,250,840 (GRCm38) V295A probably damaging Het
Vmn1r29 T A 6: 58,308,167 (GRCm38) L291M possibly damaging Het
Vsig10l C T 7: 43,464,151 (GRCm38) R176* probably null Het
Zbtb46 A G 2: 181,423,417 (GRCm38) probably null Het
Zfp644 A G 5: 106,637,982 (GRCm38) V233A probably benign Het
Other mutations in Fbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Fbp1 APN 13 62,867,379 (GRCm38) missense probably damaging 0.99
IGL02224:Fbp1 APN 13 62,888,007 (GRCm38) missense probably damaging 1.00
IGL02751:Fbp1 APN 13 62,875,143 (GRCm38) splice site probably null
IGL02887:Fbp1 APN 13 62,869,080 (GRCm38) missense probably benign
fruko UTSW 13 62,875,261 (GRCm38) missense probably damaging 1.00
PIT4362001:Fbp1 UTSW 13 62,867,380 (GRCm38) missense probably damaging 0.99
R0400:Fbp1 UTSW 13 62,865,068 (GRCm38) missense probably benign 0.04
R0656:Fbp1 UTSW 13 62,871,285 (GRCm38) missense probably benign 0.23
R1672:Fbp1 UTSW 13 62,867,431 (GRCm38) missense probably damaging 0.98
R2420:Fbp1 UTSW 13 62,871,306 (GRCm38) missense probably benign 0.00
R2422:Fbp1 UTSW 13 62,871,306 (GRCm38) missense probably benign 0.00
R3859:Fbp1 UTSW 13 62,865,116 (GRCm38) missense probably damaging 1.00
R4474:Fbp1 UTSW 13 62,875,261 (GRCm38) missense probably damaging 1.00
R4990:Fbp1 UTSW 13 62,865,074 (GRCm38) missense probably benign 0.09
R4991:Fbp1 UTSW 13 62,865,074 (GRCm38) missense probably benign 0.09
R4992:Fbp1 UTSW 13 62,865,074 (GRCm38) missense probably benign 0.09
R6463:Fbp1 UTSW 13 62,865,010 (GRCm38) missense possibly damaging 0.52
R7381:Fbp1 UTSW 13 62,865,053 (GRCm38) missense probably benign 0.01
R7448:Fbp1 UTSW 13 62,872,750 (GRCm38) missense possibly damaging 0.83
R8309:Fbp1 UTSW 13 62,869,017 (GRCm38) missense probably benign
R8318:Fbp1 UTSW 13 62,865,011 (GRCm38) missense probably benign 0.00
R8781:Fbp1 UTSW 13 62,869,017 (GRCm38) missense probably benign
R8962:Fbp1 UTSW 13 62,875,253 (GRCm38) missense probably benign 0.37
R9605:Fbp1 UTSW 13 62,871,209 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAATGCAACCTCTGGGACTAAG -3'
(R):5'- TTCATGGTTGCTCTCATCGAGG -3'

Sequencing Primer
(F):5'- TGCAACCTCTGGGACTAAGGTAAG -3'
(R):5'- CTCTCATCGAGGCTCTGGTG -3'
Posted On 2016-11-09