Incidental Mutation 'R6194:Pfkfb2'
ID 502765
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 044334-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6194 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 130616919-130656990 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 130625624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 519 (*519Q)
Ref Sequence ENSEMBL: ENSMUSP00000140551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050406] [ENSMUST00000066863] [ENSMUST00000169659] [ENSMUST00000171479] [ENSMUST00000185233] [ENSMUST00000186867] [ENSMUST00000188520] [ENSMUST00000189534] [ENSMUST00000191301] [ENSMUST00000189167] [ENSMUST00000187089] [ENSMUST00000191347]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000050406
AA Change: *498Q
SMART Domains Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: *498Q

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: *519Q
SMART Domains Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: *519Q

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: *519Q
SMART Domains Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: *519Q

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 benign
Transcript: ENSMUST00000171479
SMART Domains Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409

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: *519Q
SMART Domains Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: *519Q

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 benign
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 probably benign
Transcript: ENSMUST00000189534
SMART Domains Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409

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 benign
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 benign
Transcript: ENSMUST00000187089
SMART Domains Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409

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 probably benign
Transcript: ENSMUST00000191347
SMART Domains Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409

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: 99.5%
  • 20x: 98.6%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,309,033 (GRCm39) I90V probably benign Het
Afap1l2 T A 19: 56,911,383 (GRCm39) R370S probably damaging Het
Alcam A G 16: 52,088,761 (GRCm39) Y537H probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asap1 A G 15: 64,001,058 (GRCm39) S508P probably damaging Het
Atg5 T C 10: 44,170,612 (GRCm39) L86P probably damaging Het
Atp13a5 G A 16: 29,127,057 (GRCm39) P502S probably damaging Het
AW209491 T A 13: 14,811,705 (GRCm39) I186K possibly damaging Het
Baz1b T C 5: 135,272,744 (GRCm39) Y1354H probably damaging Het
Card6 A T 15: 5,127,926 (GRCm39) S1157T unknown Het
Chil6 A G 3: 106,312,192 (GRCm39) probably null Het
Chrna1 A G 2: 73,400,816 (GRCm39) V238A probably benign Het
Cluap1 A G 16: 3,747,770 (GRCm39) S308G probably benign Het
Cntnap4 A G 8: 113,602,061 (GRCm39) D1155G probably damaging Het
Cptp A G 4: 155,951,098 (GRCm39) F123L probably damaging Het
Elapor1 T C 3: 108,373,095 (GRCm39) I600V probably benign Het
Fbxw2 G A 2: 34,697,416 (GRCm39) T317I probably damaging Het
Gc A T 5: 89,589,438 (GRCm39) V197E probably benign Het
Gusb C T 5: 130,018,906 (GRCm39) V577M possibly damaging Het
Hectd1 A T 12: 51,795,228 (GRCm39) N2400K probably damaging Het
Hnrnph1 T A 11: 50,274,104 (GRCm39) D340E possibly damaging Het
Hs3st1 C A 5: 39,771,748 (GRCm39) K298N probably damaging Het
Hunk A T 16: 90,293,283 (GRCm39) T522S probably damaging Het
Ifit3 T C 19: 34,565,027 (GRCm39) F191S probably benign Het
Ifnab T A 4: 88,609,362 (GRCm39) K35* probably null Het
Ifnab G T 4: 88,609,363 (GRCm39) N34K probably damaging Het
Ighmbp2 C A 19: 3,312,003 (GRCm39) R917L possibly damaging Het
Igkv13-84 C T 6: 68,916,916 (GRCm39) A71V possibly damaging Het
Irag1 T C 7: 110,498,901 (GRCm39) N377D probably damaging Het
Lim2 T A 7: 43,085,086 (GRCm39) C159S probably damaging Het
Lrrc56 T C 7: 140,785,564 (GRCm39) Y147H probably damaging Het
Ltn1 A G 16: 87,212,698 (GRCm39) L621P probably damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mboat2 T A 12: 24,996,637 (GRCm39) S213R probably benign Het
Mmel1 T A 4: 154,967,673 (GRCm39) C99* probably null Het
Myo9a A G 9: 59,777,033 (GRCm39) I1144V probably benign Het
Naa15 A G 3: 51,370,721 (GRCm39) T612A probably benign Het
Naalad2 C T 9: 18,262,443 (GRCm39) V362I probably benign Het
Nbeal1 A T 1: 60,296,643 (GRCm39) I1178F possibly damaging Het
Nras C A 3: 102,966,269 (GRCm39) A11E probably damaging Het
Or13f5 T A 4: 52,825,779 (GRCm39) C127* probably null Het
Or56a3b G T 7: 104,771,377 (GRCm39) V238L probably benign Het
Pcdhb7 A G 18: 37,475,199 (GRCm39) T112A probably damaging Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Prodh A T 16: 17,890,381 (GRCm39) H515Q probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Rbks T C 5: 31,824,234 (GRCm39) E87G probably benign Het
Scyl1 G T 19: 5,820,334 (GRCm39) Q167K possibly damaging Het
Serpina3i T A 12: 104,232,762 (GRCm39) D222E probably benign Het
Slc36a4 T A 9: 15,638,172 (GRCm39) C199* probably null Het
Slx1b C T 7: 126,291,503 (GRCm39) R187H possibly damaging Het
Stxbp5 A G 10: 9,693,083 (GRCm39) F348L probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tfpt A T 7: 3,632,026 (GRCm39) L28Q probably damaging Het
Trap1 G A 16: 3,872,664 (GRCm39) T335M possibly damaging Het
Zcchc2 T A 1: 105,918,847 (GRCm39) F110I probably damaging Het
Zfp345 A T 2: 150,314,551 (GRCm39) C329S probably 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
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
R9033:Pfkfb2 UTSW 1 130,626,475 (GRCm39) nonsense probably null
R9739:Pfkfb2 UTSW 1 130,624,815 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCGGGTGACGTGTTTACACTAG -3'
(R):5'- TCACGTATGTGGTGTCCCTC -3'

Sequencing Primer
(F):5'- CGTGTTTACACTAGAGAATGGC -3'
(R):5'- GAGCCAAACCCCTGTAAGGATG -3'
Posted On 2018-02-27