Incidental Mutation 'R9033:Pfkfb2'
ID 687167
Institutional Source Beutler Lab
Gene Symbol Pfkfb2
Ensembl Gene ENSMUSG00000026409
Gene Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Synonyms 4930568D07Rik, PFK-2/FBPase-2 gene B
MMRRC Submission 068862-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9033 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 130616919-130656990 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 130626475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 433 (K433*)
Ref Sequence ENSEMBL: ENSMUSP00000129747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050406] [ENSMUST00000066863] [ENSMUST00000169659] [ENSMUST00000171479] [ENSMUST00000185233] [ENSMUST00000186867] [ENSMUST00000187089] [ENSMUST00000188520] [ENSMUST00000189167] [ENSMUST00000189534] [ENSMUST00000191301] [ENSMUST00000191347]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000050406
AA Change: K412*
SMART Domains Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: K412*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 8.1e-107 PFAM
Pfam:KTI12 40 206 9.6e-8 PFAM
Pfam:AAA_33 42 198 3.1e-9 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000066863
AA Change: K433*
SMART Domains Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 207 3.5e-8 PFAM
Pfam:AAA_33 42 199 1.2e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000169659
AA Change: K433*
SMART Domains Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.3e-106 PFAM
Pfam:KTI12 41 207 4.3e-8 PFAM
Pfam:AAA_33 42 199 1.2e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171479
AA Change: K433*
SMART Domains Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 208 3.7e-8 PFAM
Pfam:AAA_33 42 199 1.1e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185233
AA Change: K433*
SMART Domains Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 207 3.5e-8 PFAM
Pfam:AAA_33 42 199 1.2e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186867
Predicted Effect probably null
Transcript: ENSMUST00000187089
AA Change: K433*
SMART Domains Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1e-103 PFAM
Pfam:KTI12 41 207 2.3e-5 PFAM
Pfam:AAA_33 42 199 1.4e-8 PFAM
PGAM 253 400 2.9e-20 SMART
Predicted Effect silent
Transcript: ENSMUST00000188520
SMART Domains Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 6.3e-107 PFAM
Pfam:KTI12 41 209 2.3e-8 PFAM
Pfam:AAA_33 42 199 6.4e-11 PFAM
PGAM 253 342 1.31e-5 SMART
Predicted Effect silent
Transcript: ENSMUST00000189167
SMART Domains Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 6.3e-107 PFAM
Pfam:KTI12 41 209 2.3e-8 PFAM
Pfam:AAA_33 42 199 6.4e-11 PFAM
PGAM 253 342 1.31e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000189534
AA Change: K433*
SMART Domains Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 208 3.7e-8 PFAM
Pfam:AAA_33 42 199 1.1e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191301
SMART Domains Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 181 9.5e-70 PFAM
Pfam:KTI12 41 183 3.2e-8 PFAM
Pfam:AAA_33 42 184 1.1e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000191347
AA Change: K433*
SMART Domains Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: K433*

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-103 PFAM
Pfam:KTI12 41 207 2.4e-5 PFAM
Pfam:AAA_33 42 199 1.6e-8 PFAM
PGAM 253 400 2.9e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (30/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,808,934 (GRCm39) G87D unknown Het
Actg1 T C 11: 120,237,826 (GRCm39) K238R probably benign Het
Arhgef10l G A 4: 140,321,463 (GRCm39) R115C probably damaging Het
Aspm T C 1: 139,405,865 (GRCm39) F1584S probably damaging Het
Atp2b4 C T 1: 133,634,725 (GRCm39) R1168H probably benign Het
Catsper1 G A 19: 5,387,864 (GRCm39) probably null Het
Chgb A C 2: 132,634,914 (GRCm39) K285N probably damaging Het
Csnk1g1 A G 9: 65,915,070 (GRCm39) Y243C probably damaging Het
Dpysl5 G T 5: 30,948,941 (GRCm39) D399Y probably damaging Het
Enam A G 5: 88,646,475 (GRCm39) R259G probably benign Het
Foxf2 C T 13: 31,810,085 (GRCm39) P8L unknown Het
Fpr1 C T 17: 18,097,691 (GRCm39) W99* probably null Het
Itprid2 A G 2: 79,465,938 (GRCm39) S19G probably damaging Het
Kansl1 A G 11: 104,248,356 (GRCm39) S533P probably benign Het
Klhl25 T A 7: 75,516,681 (GRCm39) M529K probably damaging Het
Mtss2 G A 8: 111,465,651 (GRCm39) R697H probably damaging Het
Nup210l G A 3: 90,105,396 (GRCm39) V1515I probably benign Het
Pcdh15 T C 10: 74,302,138 (GRCm39) F926L probably damaging Het
Pirb G C 7: 3,720,584 (GRCm39) Q305E probably benign Het
Pld5 T C 1: 175,967,585 (GRCm39) D90G probably damaging Het
Rergl T C 6: 139,471,900 (GRCm39) Y83C probably damaging Het
Rorb G A 19: 18,965,422 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Shank2 A G 7: 143,965,236 (GRCm39) Q948R probably damaging Het
Slc4a5 C T 6: 83,237,457 (GRCm39) R147* probably null Het
Tdpoz6 T C 3: 93,600,168 (GRCm39) Y67C probably damaging Het
Tdrd7 G T 4: 46,007,468 (GRCm39) D507Y probably damaging Het
Tspan31 C A 10: 126,904,349 (GRCm39) probably benign Het
Usp40 T C 1: 87,923,499 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,606,414 (GRCm39) Y311N probably benign Het
Zbtb11 T A 16: 55,818,492 (GRCm39) S639T probably benign Het
Zfp52 T C 17: 21,780,655 (GRCm39) F168L possibly damaging Het
Other mutations in Pfkfb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Pfkfb2 APN 1 130,633,107 (GRCm39) splice site probably benign
IGL02273:Pfkfb2 APN 1 130,635,319 (GRCm39) missense probably damaging 1.00
IGL02369:Pfkfb2 APN 1 130,628,572 (GRCm39) missense probably damaging 0.99
IGL02469:Pfkfb2 APN 1 130,627,774 (GRCm39) missense probably damaging 1.00
IGL02490:Pfkfb2 APN 1 130,628,589 (GRCm39) missense probably damaging 1.00
R0080:Pfkfb2 UTSW 1 130,642,279 (GRCm39) missense probably benign 0.20
R0616:Pfkfb2 UTSW 1 130,634,159 (GRCm39) splice site probably null
R1458:Pfkfb2 UTSW 1 130,635,927 (GRCm39) missense possibly damaging 0.89
R1490:Pfkfb2 UTSW 1 130,625,626 (GRCm39) splice site probably null
R1548:Pfkfb2 UTSW 1 130,625,820 (GRCm39) missense probably benign
R1554:Pfkfb2 UTSW 1 130,634,209 (GRCm39) missense probably damaging 1.00
R2143:Pfkfb2 UTSW 1 130,626,460 (GRCm39) missense probably benign 0.00
R2144:Pfkfb2 UTSW 1 130,626,460 (GRCm39) missense probably benign 0.00
R2145:Pfkfb2 UTSW 1 130,626,460 (GRCm39) missense probably benign 0.00
R2212:Pfkfb2 UTSW 1 130,635,269 (GRCm39) missense probably damaging 1.00
R2938:Pfkfb2 UTSW 1 130,633,147 (GRCm39) missense possibly damaging 0.95
R4650:Pfkfb2 UTSW 1 130,633,200 (GRCm39) missense possibly damaging 0.67
R4683:Pfkfb2 UTSW 1 130,634,221 (GRCm39) critical splice acceptor site probably null
R5153:Pfkfb2 UTSW 1 130,629,527 (GRCm39) missense probably damaging 1.00
R5914:Pfkfb2 UTSW 1 130,627,832 (GRCm39) missense probably damaging 1.00
R5976:Pfkfb2 UTSW 1 130,635,816 (GRCm39) nonsense probably null
R6194:Pfkfb2 UTSW 1 130,625,624 (GRCm39) makesense probably null
R6285:Pfkfb2 UTSW 1 130,635,299 (GRCm39) nonsense probably null
R6956:Pfkfb2 UTSW 1 130,635,337 (GRCm39) missense probably damaging 1.00
R6971:Pfkfb2 UTSW 1 130,628,533 (GRCm39) missense probably damaging 1.00
R7723:Pfkfb2 UTSW 1 130,635,325 (GRCm39) missense probably damaging 1.00
R8475:Pfkfb2 UTSW 1 130,624,816 (GRCm39) missense probably benign
R8704:Pfkfb2 UTSW 1 130,625,780 (GRCm39) missense probably benign 0.12
R8846:Pfkfb2 UTSW 1 130,625,648 (GRCm39) missense probably benign
R8884:Pfkfb2 UTSW 1 130,634,213 (GRCm39) missense probably damaging 0.96
R9739:Pfkfb2 UTSW 1 130,624,815 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAACGGTTTCATCTTTGCCTC -3'
(R):5'- TTGAGCTTCCTCTTGATGGC -3'

Sequencing Primer
(F):5'- CATCTTTGCCTCTTGGAAATAAAGAG -3'
(R):5'- GAGCTTCCTCTTGATGGCTTTTC -3'
Posted On 2021-11-19