Incidental Mutation 'R4208:Pfkfb1'
ID 319052
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 041037-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4208 (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: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,910,060 (GRCm39) L284P probably benign Het
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ace2 A G X: 162,952,581 (GRCm39) I110V probably benign Het
Adamts12 A G 15: 11,071,840 (GRCm39) H128R probably benign Het
Aoc1l2 A T 6: 48,908,581 (GRCm39) D527V probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
B4galnt3 A G 6: 120,192,063 (GRCm39) S557P probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Casp12 T C 9: 5,346,629 (GRCm39) L52P probably damaging Het
Cep126 C T 9: 8,100,822 (GRCm39) E571K probably damaging Het
Cfhr1 A G 1: 139,475,616 (GRCm39) probably benign Het
Cmah A G 13: 24,601,410 (GRCm39) probably null Het
Col10a1 C T 10: 34,271,539 (GRCm39) P504S probably damaging Het
Ctnna3 T A 10: 64,795,557 (GRCm39) D758E probably benign Het
Cyp2c65 T C 19: 39,079,099 (GRCm39) S393P probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null 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
F13b G T 1: 139,444,079 (GRCm39) W471L probably damaging Het
Fam181a A G 12: 103,282,173 (GRCm39) D26G probably damaging Het
Gabpb2 A G 3: 95,111,245 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,879 (GRCm39) noncoding transcript Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Lars1 T C 18: 42,362,768 (GRCm39) E557G probably benign Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Lsr A G 7: 30,672,519 (GRCm39) I27T probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Mpp3 T C 11: 101,891,426 (GRCm39) T571A probably benign Het
Or4c1 A T 2: 89,133,270 (GRCm39) I222N probably damaging Het
Or52n3 A G 7: 104,530,810 (GRCm39) T299A probably damaging Het
Padi1 C A 4: 140,544,538 (GRCm39) V552L possibly damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
RP24-126A19.1 C A 5: 146,832,606 (GRCm39) R123L noncoding transcript Het
Scn10a T A 9: 119,445,842 (GRCm39) E1438V probably damaging Het
Sfmbt2 T A 2: 10,547,793 (GRCm39) D458E probably damaging Het
Slitrk3 T A 3: 72,958,490 (GRCm39) Y94F possibly damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging 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
Trbv23 A T 6: 41,193,022 (GRCm39) I6F probably benign Het
Vmn1r87 A G 7: 12,866,185 (GRCm39) V34A probably benign Het
Zc3h7a C T 16: 10,982,508 (GRCm39) E6K possibly damaging Het
Zfp606 G A 7: 12,228,102 (GRCm39) C683Y 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
R4207: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'- ACTGCCTCATGGAAAATTGGAC -3'

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