Incidental Mutation 'R4207:Pfkfb1'
ID 319003
Institutional Source Beutler Lab
Gene Symbol Pfkfb1
Ensembl Gene ENSMUSG00000025271
Gene Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Synonyms PFK-2/FBPase-2 gene A
MMRRC Submission 041036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4207 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 149371225-149426874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149405184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 208 (D208V)
Ref Sequence ENSEMBL: ENSMUSP00000108333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080884] [ENSMUST00000112713] [ENSMUST00000153221]
AlphaFold P70266
Predicted Effect probably benign
Transcript: ENSMUST00000080884
AA Change: D185V

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079692
Gene: ENSMUSG00000025271
AA Change: D185V

DomainStartEndE-ValueType
Pfam:Zeta_toxin 2 135 2.6e-8 PFAM
Pfam:6PF2K 7 228 3.1e-106 PFAM
Pfam:AAA_33 21 177 1.1e-11 PFAM
PGAM 230 377 8.92e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112713
AA Change: D208V

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108333
Gene: ENSMUSG00000025271
AA Change: D208V

DomainStartEndE-ValueType
Pfam:6PF2K 30 251 2.7e-106 PFAM
Pfam:AAA_33 44 199 1.6e-10 PFAM
PGAM 253 400 8.92e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150783
Predicted Effect probably benign
Transcript: ENSMUST00000153221
AA Change: D185V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115844
Gene: ENSMUSG00000025271
AA Change: D185V

DomainStartEndE-ValueType
Pfam:Zeta_toxin 2 136 2.3e-9 PFAM
Pfam:6PF2K 7 198 1.5e-91 PFAM
Pfam:KTI12 20 181 5.4e-8 PFAM
Pfam:AAA_33 21 177 1.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154528
Meta Mutation Damage Score 0.7252 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI

 All alleles(4) : Gene trapped(4)
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Acap2 T A 16: 30,938,245 (GRCm39) N293I probably damaging Het
Adgrg4 G A X: 55,964,109 (GRCm39) V1893I possibly damaging Het
Aff1 T C 5: 103,966,854 (GRCm39) probably null Het
Ap1b1 A G 11: 4,981,637 (GRCm39) D515G probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Cand1 T C 10: 119,047,750 (GRCm39) D580G probably damaging Het
Casp4 A G 9: 5,328,451 (GRCm39) D311G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctnnd2 G T 15: 30,972,973 (GRCm39) V1033F probably damaging Het
Dhx29 G T 13: 113,064,483 (GRCm39) A53S probably benign Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Efl1 T C 7: 82,400,024 (GRCm39) V592A probably damaging Het
Elovl7 A T 13: 108,419,040 (GRCm39) Q224L possibly damaging Het
Fcgr3 T A 1: 170,881,644 (GRCm39) K160N probably benign Het
Flg A G 3: 93,187,169 (GRCm39) Y207C probably benign Het
Fmn2 A G 1: 174,409,521 (GRCm39) T585A unknown Het
Gm7135 T C 1: 97,397,620 (GRCm39) noncoding transcript Het
Gm8104 G T 14: 42,959,091 (GRCm39) D94Y probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kbtbd4 T C 2: 90,740,099 (GRCm39) F495L probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Mthfsd A G 8: 121,832,365 (GRCm39) V133A probably damaging Het
Nav2 T A 7: 49,246,979 (GRCm39) I2168N probably damaging Het
Nav2 T A 7: 49,222,046 (GRCm39) probably null Het
Nlrp10 T A 7: 108,523,548 (GRCm39) D644V possibly damaging Het
Oplah C T 15: 76,186,910 (GRCm39) R635H probably damaging Het
Or10n1 A G 9: 39,525,253 (GRCm39) Y130C possibly damaging Het
Or2c1 T C 16: 3,657,434 (GRCm39) L199P probably damaging Het
Or5b117 T C 19: 13,431,835 (GRCm39) I15M probably benign Het
Peli1 A G 11: 21,097,115 (GRCm39) probably null Het
Pld5 T G 1: 175,821,441 (GRCm39) T242P probably damaging Het
Rbm5 A G 9: 107,627,682 (GRCm39) S420P probably benign Het
Rhag A T 17: 41,142,544 (GRCm39) I250F probably damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Scaf4 C T 16: 90,057,103 (GRCm39) V83I unknown Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Slc5a8 G T 10: 88,747,275 (GRCm39) L409F probably damaging Het
Spns3 A T 11: 72,429,187 (GRCm39) V199E probably damaging Het
Sspo A G 6: 48,455,227 (GRCm39) T3030A probably benign Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Stk39 G T 2: 68,051,264 (GRCm39) T527K probably benign Het
Sult2a1 T A 7: 13,535,472 (GRCm39) T194S probably benign Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Umodl1 G A 17: 31,178,341 (GRCm39) V106I probably damaging Het
Vmn2r85 A C 10: 130,254,574 (GRCm39) C703W probably damaging Het
Vmn2r92 G A 17: 18,404,523 (GRCm39) V556M possibly damaging Het
Zfp292 T C 4: 34,806,079 (GRCm39) I2322V probably benign Het
Zfp644 T C 5: 106,766,142 (GRCm39) E93G probably damaging Het
Zfp81 C T 17: 33,553,890 (GRCm39) C308Y probably damaging Het
Other mutations in Pfkfb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Pfkfb1 APN X 149,405,138 (GRCm39) missense probably damaging 1.00
3-1:Pfkfb1 UTSW X 149,391,690 (GRCm39) missense probably damaging 1.00
R0494:Pfkfb1 UTSW X 149,417,609 (GRCm39) missense probably damaging 1.00
R4052:Pfkfb1 UTSW X 149,405,184 (GRCm39) missense possibly damaging 0.64
R4208:Pfkfb1 UTSW X 149,405,184 (GRCm39) missense possibly damaging 0.64
Z1187:Pfkfb1 UTSW X 149,391,627 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTAACATACAGCCCAACTTAAGC -3'
(R):5'- AACATCGAGGTAACACTGCC -3'

Sequencing Primer
(F):5'- GTCTCTGAAGGTCATTTCCAAGTAC -3'
(R):5'- CACTGCCTCATGGAAAATTGGACTG -3'
Posted On 2015-06-10