Incidental Mutation 'IGL02490:Pfkfb2'
ID 295578
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02490
Quality Score
Status
Chromosome 1
Chromosomal Location 130616919-130656990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130628589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 339 (Y339F)
Ref Sequence ENSEMBL: ENSMUSP00000140355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050406] [ENSMUST00000066863] [ENSMUST00000169659] [ENSMUST00000171479] [ENSMUST00000185233] [ENSMUST00000186867] [ENSMUST00000189167] [ENSMUST00000188520] [ENSMUST00000189534] [ENSMUST00000191347] [ENSMUST00000187089] [ENSMUST00000191301]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050406
AA Change: Y339F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000066863
AA Change: Y339F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000169659
AA Change: Y339F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000171479
AA Change: Y339F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000185233
AA Change: Y339F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000189167
AA Change: Y339F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000188520
AA Change: Y339F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000189534
AA Change: Y339F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: Y339F

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 damaging
Transcript: ENSMUST00000191347
AA Change: Y339F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: Y339F

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
Predicted Effect probably damaging
Transcript: ENSMUST00000187089
AA Change: Y339F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: Y339F

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: 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
Coding Region Coverage
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P 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
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
R9033:Pfkfb2 UTSW 1 130,626,475 (GRCm39) nonsense probably null
R9739:Pfkfb2 UTSW 1 130,624,815 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16