Incidental Mutation 'R9632:Pfkfb3'
ID 725543
Institutional Source Beutler Lab
Gene Symbol Pfkfb3
Ensembl Gene ENSMUSG00000026773
Gene Name 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
Synonyms uPFK-2, E330010H22Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9632 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 11476241-11558882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 11486109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 459 (R459S)
Ref Sequence ENSEMBL: ENSMUSP00000137130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028114] [ENSMUST00000049849] [ENSMUST00000100411] [ENSMUST00000114844] [ENSMUST00000114845] [ENSMUST00000114846] [ENSMUST00000179584] [ENSMUST00000170196] [ENSMUST00000171188] [ENSMUST00000183869] [ENSMUST00000191668] [ENSMUST00000192949] [ENSMUST00000195779]
AlphaFold A7UAK5
Predicted Effect probably benign
Transcript: ENSMUST00000028114
SMART Domains Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.6e-110 PFAM
Pfam:KTI12 36 218 7e-9 PFAM
Pfam:AAA_33 37 191 1.7e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049849
SMART Domains Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.3e-110 PFAM
Pfam:KTI12 36 218 9.7e-9 PFAM
Pfam:AAA_33 37 191 1.9e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100411
SMART Domains Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 5.8e-110 PFAM
Pfam:KTI12 36 219 9.6e-9 PFAM
Pfam:AAA_33 37 191 2.4e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114844
AA Change: R459S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: R459S

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 6.6e-110 PFAM
Pfam:KTI12 36 218 1.1e-8 PFAM
Pfam:AAA_33 37 191 2.6e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114845
SMART Domains Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.6e-110 PFAM
Pfam:KTI12 36 218 7e-9 PFAM
Pfam:AAA_33 37 191 1.7e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114846
SMART Domains Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.1e-110 PFAM
Pfam:KTI12 36 219 9e-9 PFAM
Pfam:AAA_33 37 191 1.9e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179584
AA Change: R459S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: R459S

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.3e-110 PFAM
Pfam:KTI12 36 225 7e-9 PFAM
Pfam:AAA_33 37 191 1.5e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: R459S

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.4e-110 PFAM
Pfam:KTI12 36 218 9.9e-9 PFAM
Pfam:AAA_33 37 191 2e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171188
AA Change: R459S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: R459S

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.2e-110 PFAM
Pfam:KTI12 36 209 4.2e-8 PFAM
Pfam:AAA_33 37 167 1.8e-9 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183869
SMART Domains Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 2.3e-110 PFAM
Pfam:KTI12 36 225 7e-9 PFAM
Pfam:AAA_33 37 191 1.5e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191668
AA Change: R459S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: R459S

DomainStartEndE-ValueType
Pfam:6PF2K 24 246 3.6e-110 PFAM
Pfam:KTI12 36 218 1e-8 PFAM
Pfam:AAA_33 37 191 2.1e-10 PFAM
PGAM 248 395 5.09e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192949
SMART Domains Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 3 226 1.9e-107 PFAM
Pfam:KTI12 16 200 3.9e-6 PFAM
Pfam:AAA_33 17 171 1.9e-8 PFAM
PGAM 228 375 3.8e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195779
SMART Domains Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773

DomainStartEndE-ValueType
Pfam:6PF2K 3 159 1.3e-69 PFAM
Pfam:KTI12 16 212 1.8e-6 PFAM
Pfam:AAA_33 17 163 1.6e-9 PFAM
Pfam:6PF2K 158 242 2.2e-32 PFAM
Pfam:His_Phos_1 244 326 3.4e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 belongs to a family of bifunctional proteins that are 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 (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before E8 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,389,072 (GRCm39) I570T probably damaging Het
Adamtsl4 G A 3: 95,589,090 (GRCm39) T447I probably damaging Het
Ahcyl1 T A 3: 107,578,494 (GRCm39) I248F possibly damaging Het
Arhgef2 T C 3: 88,528,576 (GRCm39) I4T probably benign Het
Bin2 T C 15: 100,549,915 (GRCm39) D176G possibly damaging Het
Bptf T A 11: 106,952,545 (GRCm39) T2166S probably damaging Het
Cachd1 T A 4: 100,832,092 (GRCm39) N751K probably benign Het
Castor1 A G 11: 4,169,015 (GRCm39) K61E probably benign Het
CN725425 A T 15: 91,126,851 (GRCm39) T214S possibly damaging Het
Crtam A T 9: 40,895,671 (GRCm39) D218E probably benign Het
Ctsj C T 13: 61,151,828 (GRCm39) M76I probably benign Het
Cuedc1 C A 11: 88,060,955 (GRCm39) S99R possibly damaging Het
Cyp4a14 T A 4: 115,349,347 (GRCm39) I238F probably benign Het
Dnajb11 A T 16: 22,681,344 (GRCm39) I41F probably damaging Het
Drd3 A G 16: 43,643,135 (GRCm39) N425S probably damaging Het
Eci1 G C 17: 24,645,859 (GRCm39) G25R probably damaging Het
Etl4 A T 2: 20,666,749 (GRCm39) N52I probably benign Het
Fbxo34 T C 14: 47,768,724 (GRCm39) Y746H probably damaging Het
Fcgbpl1 A G 7: 27,841,726 (GRCm39) I554V probably benign Het
Fndc1 T C 17: 7,991,622 (GRCm39) I691M unknown Het
Fut8 A G 12: 77,440,507 (GRCm39) T165A probably benign Het
Galr1 A T 18: 82,424,103 (GRCm39) L58Q probably damaging Het
Glt28d2 T C 3: 85,779,059 (GRCm39) D138G probably benign Het
Gm11595 A T 11: 99,663,097 (GRCm39) C194* probably null Het
Gm14403 T A 2: 177,201,421 (GRCm39) N213K probably benign Het
Gmpr T C 13: 45,699,519 (GRCm39) V343A probably benign Het
Hacd1 T C 2: 14,040,678 (GRCm39) N152D possibly damaging Het
Hcn1 A G 13: 118,010,522 (GRCm39) S367G probably benign Het
Impg1 A G 9: 80,287,276 (GRCm39) V390A probably benign Het
Itpr1 T C 6: 108,382,481 (GRCm39) C1458R possibly damaging Het
Kif16b A T 2: 142,553,960 (GRCm39) V946E probably benign Het
Krt71 T C 15: 101,644,988 (GRCm39) E441G probably damaging Het
Lhcgr A G 17: 89,049,532 (GRCm39) F665L probably benign Het
Lrrc37 T A 11: 103,433,252 (GRCm39) S3306C unknown Het
Lzic T A 4: 149,573,141 (GRCm39) F98I probably damaging Het
Map3k8 A T 18: 4,339,546 (GRCm39) V275D probably damaging Het
Marchf8 C T 6: 116,378,405 (GRCm39) T113I possibly damaging Het
Mmp15 A G 8: 96,098,731 (GRCm39) probably null Het
Mpst A G 15: 78,294,469 (GRCm39) D67G probably damaging Het
Nanog T C 6: 122,684,799 (GRCm39) S20P probably benign Het
Ndufc2 T C 7: 97,056,102 (GRCm39) S67P probably damaging Het
Nrg1 T C 8: 32,407,621 (GRCm39) K204R possibly damaging Het
Nsf T A 11: 103,714,594 (GRCm39) K728N probably damaging Het
Nutm2 C A 13: 50,628,901 (GRCm39) P655H probably benign Het
Obscn G A 11: 58,943,397 (GRCm39) R4251C probably benign Het
Or10g9 A T 9: 39,912,172 (GRCm39) M117K probably damaging Het
Or11h4 C T 14: 50,974,199 (GRCm39) C140Y probably benign Het
Or4a15 T C 2: 89,193,065 (GRCm39) Y236C probably damaging Het
Or4c102 A T 2: 88,423,057 (GRCm39) Q303L probably benign Het
Or4c120 T C 2: 89,001,752 (GRCm39) probably benign Het
Or56a5 T A 7: 104,793,165 (GRCm39) T112S probably benign Het
Otog A T 7: 45,915,143 (GRCm39) Q836L probably benign Het
Pcdhb11 T C 18: 37,556,019 (GRCm39) F450L probably damaging Het
Pelp1 T C 11: 70,284,835 (GRCm39) E1011G unknown Het
Pgm1 T C 4: 99,843,918 (GRCm39) L567P probably damaging Het
Phf2 T A 13: 48,971,292 (GRCm39) D460V unknown Het
Polr1f G A 12: 33,479,723 (GRCm39) G24R possibly damaging Het
Pou5f1 G A 17: 35,819,731 (GRCm39) probably benign Het
Pou6f2 T C 13: 18,299,848 (GRCm39) R604G Het
Pramel5 T A 4: 143,999,545 (GRCm39) I181F probably benign Het
Ptprc T C 1: 138,008,627 (GRCm39) R687G probably damaging Het
Ptprz1 T A 6: 23,007,292 (GRCm39) H1618Q probably damaging Het
Qars1 G A 9: 108,391,582 (GRCm39) D618N probably damaging Het
Ripply3 A G 16: 94,134,139 (GRCm39) T68A probably benign Het
Rrad A G 8: 105,356,320 (GRCm39) M160T probably benign Het
Rtn1 A G 12: 72,350,961 (GRCm39) V416A probably damaging Het
Rttn A G 18: 89,035,334 (GRCm39) N736S possibly damaging Het
Sash1 A T 10: 8,615,969 (GRCm39) V631E probably damaging Het
Selenof T A 3: 144,283,370 (GRCm39) F33L probably benign Het
Serpinb6b A T 13: 33,155,532 (GRCm39) N82Y possibly damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Shpk G T 11: 73,104,238 (GRCm39) R129L probably damaging Het
Slc2a10 A C 2: 165,358,176 (GRCm39) I434L probably damaging Het
Slc30a6 G T 17: 74,730,059 (GRCm39) M316I probably benign Het
Slx4 A T 16: 3,803,969 (GRCm39) H948Q probably benign Het
Sncaip A G 18: 53,039,726 (GRCm39) E640G probably damaging Het
Sox7 G A 14: 64,185,509 (GRCm39) A182T probably benign Het
Spata31e5 T A 1: 28,817,120 (GRCm39) Y304F probably benign Het
Srcin1 A G 11: 97,442,648 (GRCm39) I60T probably benign Het
Srm C T 4: 148,676,039 (GRCm39) probably benign Het
Srrt A T 5: 137,296,689 (GRCm39) M447K possibly damaging Het
Stam A T 2: 14,122,204 (GRCm39) H101L probably damaging Het
Suz12 C T 11: 79,915,748 (GRCm39) T407M possibly damaging Het
Tbc1d10b A G 7: 126,807,036 (GRCm39) V167A probably benign Het
Trav16 T A 14: 53,980,910 (GRCm39) V33E possibly damaging Het
Tshr C T 12: 91,504,409 (GRCm39) P449L probably damaging Het
Ttc17 A G 2: 94,209,097 (GRCm39) V119A probably damaging Het
Ttc19 A G 11: 62,203,997 (GRCm39) I319M probably benign Het
Ttc6 A G 12: 57,664,299 (GRCm39) M351V probably benign Het
Ttn G A 2: 76,714,897 (GRCm39) R8026* probably null Het
Ttn A T 2: 76,750,210 (GRCm39) V3613E probably benign Het
Txndc16 T C 14: 45,400,467 (GRCm39) I345V probably benign Het
Ube3b T C 5: 114,553,370 (GRCm39) I914T probably benign Het
Vmn1r73 T C 7: 11,490,407 (GRCm39) F75S possibly damaging Het
Vmn2r54 A T 7: 12,363,753 (GRCm39) M380K possibly damaging Het
Zfp820 T C 17: 22,038,107 (GRCm39) Y407C probably damaging Het
Zic5 C T 14: 122,701,787 (GRCm39) A315T unknown Het
Zmiz1 C A 14: 25,663,411 (GRCm39) D1053E unknown Het
Other mutations in Pfkfb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Pfkfb3 APN 2 11,493,565 (GRCm39) missense probably damaging 1.00
IGL01651:Pfkfb3 APN 2 11,494,495 (GRCm39) missense probably damaging 0.97
IGL02010:Pfkfb3 APN 2 11,488,805 (GRCm39) missense probably benign
IGL02546:Pfkfb3 APN 2 11,493,589 (GRCm39) missense probably damaging 1.00
IGL03182:Pfkfb3 APN 2 11,506,474 (GRCm39) missense probably damaging 0.99
R1491:Pfkfb3 UTSW 2 11,498,747 (GRCm39) missense probably damaging 1.00
R2365:Pfkfb3 UTSW 2 11,498,713 (GRCm39) critical splice donor site probably null
R2919:Pfkfb3 UTSW 2 11,489,138 (GRCm39) missense probably benign 0.00
R2920:Pfkfb3 UTSW 2 11,489,138 (GRCm39) missense probably benign 0.00
R4709:Pfkfb3 UTSW 2 11,498,719 (GRCm39) missense probably damaging 1.00
R4863:Pfkfb3 UTSW 2 11,491,123 (GRCm39) missense probably benign
R4915:Pfkfb3 UTSW 2 11,495,109 (GRCm39) nonsense probably null
R5087:Pfkfb3 UTSW 2 11,488,825 (GRCm39) missense probably damaging 1.00
R5109:Pfkfb3 UTSW 2 11,491,162 (GRCm39) splice site probably benign
R5244:Pfkfb3 UTSW 2 11,489,660 (GRCm39) missense probably damaging 1.00
R5488:Pfkfb3 UTSW 2 11,489,480 (GRCm39) missense probably benign 0.00
R5573:Pfkfb3 UTSW 2 11,506,483 (GRCm39) missense probably benign 0.28
R5619:Pfkfb3 UTSW 2 11,489,470 (GRCm39) missense probably benign 0.00
R5757:Pfkfb3 UTSW 2 11,485,141 (GRCm39) missense probably damaging 0.99
R6015:Pfkfb3 UTSW 2 11,486,146 (GRCm39) critical splice acceptor site probably null
R7495:Pfkfb3 UTSW 2 11,487,312 (GRCm39) missense probably damaging 1.00
R7688:Pfkfb3 UTSW 2 11,497,450 (GRCm39) missense probably damaging 1.00
R7813:Pfkfb3 UTSW 2 11,486,719 (GRCm39) missense probably benign 0.12
R8682:Pfkfb3 UTSW 2 11,489,144 (GRCm39) missense probably benign 0.00
R8911:Pfkfb3 UTSW 2 11,487,254 (GRCm39) critical splice donor site probably null
R9103:Pfkfb3 UTSW 2 11,487,381 (GRCm39) missense probably damaging 1.00
R9198:Pfkfb3 UTSW 2 11,491,084 (GRCm39) missense probably damaging 1.00
R9423:Pfkfb3 UTSW 2 11,487,276 (GRCm39) missense probably damaging 1.00
R9682:Pfkfb3 UTSW 2 11,491,058 (GRCm39) missense probably benign 0.26
X0024:Pfkfb3 UTSW 2 11,487,366 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGGCTTTCTTCATTCAGCTAAC -3'
(R):5'- TCTTAGGAGACTCAGCACCTG -3'

Sequencing Primer
(F):5'- TAACTGAGCAGGTGCCCC -3'
(R):5'- GAGACTCAGCACCTGTCTCC -3'
Posted On 2022-09-12