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

Genbank: NM_008824
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4207 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 150588229-150643878 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150622188 bp (GRCm38)
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: 109,981,725 Q17* probably null Het
Acap2 T A 16: 31,119,427 N293I probably damaging Het
Adgrg4 G A X: 56,918,749 V1893I possibly damaging Het
Aff1 T C 5: 103,818,988 probably null Het
Ap1b1 A G 11: 5,031,637 D515G probably damaging Het
Brk1 T C 6: 113,615,844 Y63H possibly damaging Het
Cand1 T C 10: 119,211,845 D580G probably damaging Het
Casp4 A G 9: 5,328,451 D311G probably benign Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Ctnnd2 G T 15: 30,972,827 V1033F probably damaging Het
Dhx29 G T 13: 112,927,949 A53S probably benign Het
Dis3 T G 14: 99,095,316 I227L probably benign Het
Efhc2 T C X: 17,230,550 N186S possibly damaging Het
Efl1 T C 7: 82,750,816 V592A probably damaging Het
Elovl7 A T 13: 108,282,506 Q224L possibly damaging Het
Fcgr3 T A 1: 171,054,075 K160N probably benign Het
Flg A G 3: 93,279,862 Y207C probably benign Het
Fmn2 A G 1: 174,581,955 T585A unknown Het
Gm7135 T C 1: 97,469,895 noncoding transcript Het
Gm8104 G T 14: 43,101,634 D94Y probably damaging Het
Hjurp G C 1: 88,277,215 probably benign Het
Ino80b G C 6: 83,122,333 P178R probably damaging Het
Kbtbd4 T C 2: 90,909,755 F495L probably damaging Het
Lingo2 T C 4: 35,709,810 I57V probably benign Het
Me2 T C 18: 73,791,085 K352R probably benign Het
Mthfsd A G 8: 121,105,626 V133A probably damaging Het
Nav2 T A 7: 49,572,298 probably null Het
Nav2 T A 7: 49,597,231 I2168N probably damaging Het
Nlrp10 T A 7: 108,924,341 D644V possibly damaging Het
Olfr1472 T C 19: 13,454,471 I15M probably benign Het
Olfr148 A G 9: 39,613,957 Y130C possibly damaging Het
Olfr15 T C 16: 3,839,570 L199P probably damaging Het
Oplah C T 15: 76,302,710 R635H probably damaging Het
Peli1 A G 11: 21,147,115 probably null Het
Pld5 T G 1: 175,993,875 T242P probably damaging Het
Rbm5 A G 9: 107,750,483 S420P probably benign Het
Rhag A T 17: 40,831,653 I250F probably damaging Het
Rnase4 A G 14: 51,105,005 K62R probably benign Het
Scaf4 C T 16: 90,260,215 V83I unknown Het
Slc24a2 A G 4: 87,227,205 V204A probably damaging Het
Slc5a8 G T 10: 88,911,413 L409F probably damaging Het
Spns3 A T 11: 72,538,361 V199E probably damaging Het
Sspo A G 6: 48,478,293 T3030A probably benign Het
Sstr2 A C 11: 113,624,656 T134P probably damaging Het
Stk39 G T 2: 68,220,920 T527K probably benign Het
Sult2a1 T A 7: 13,801,547 T194S probably benign Het
Tamm41 AGGG AGG 6: 115,012,359 probably benign Het
Trav7-3 A G 14: 53,443,746 T82A probably benign Het
Umodl1 G A 17: 30,959,367 V106I probably damaging Het
Vmn2r85 A C 10: 130,418,705 C703W probably damaging Het
Vmn2r92 G A 17: 18,184,261 V556M possibly damaging Het
Zfp292 T C 4: 34,806,079 I2322V probably benign Het
Zfp644 T C 5: 106,618,276 E93G probably damaging Het
Zfp81 C T 17: 33,334,916 C308Y probably damaging Het
Other mutations in Pfkfb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Pfkfb1 APN X 150622142 missense probably damaging 1.00
3-1:Pfkfb1 UTSW X 150608694 missense probably damaging 1.00
R0494:Pfkfb1 UTSW X 150634613 missense probably damaging 1.00
R4052:Pfkfb1 UTSW X 150622188 missense possibly damaging 0.64
R4208:Pfkfb1 UTSW X 150622188 missense possibly damaging 0.64
Z1187:Pfkfb1 UTSW X 150608631 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