Incidental Mutation 'R7044:Pfkp'
ID 547222
Institutional Source Beutler Lab
Gene Symbol Pfkp
Ensembl Gene ENSMUSG00000021196
Gene Name phosphofructokinase, platelet
Synonyms 9330125N24Rik, 1200015H23Rik, PFK-C
MMRRC Submission 045143-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R7044 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 6579768-6648777 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6581567 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 151 (W151R)
Ref Sequence ENSEMBL: ENSMUSP00000114439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000021614] [ENSMUST00000138703] [ENSMUST00000142972] [ENSMUST00000154100] [ENSMUST00000222485]
AlphaFold Q9WUA3
Predicted Effect probably benign
Transcript: ENSMUST00000021611
SMART Domains Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193

DomainStartEndE-ValueType
Pfam:Peptidase_M16 93 188 1.8e-7 PFAM
Pfam:Peptidase_M16_C 244 431 4.7e-27 PFAM
M16C_associated 504 752 2.8e-114 SMART
Pfam:Peptidase_M16_C 771 958 2.8e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000021614
AA Change: W750R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: W750R

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:PFK 25 332 4.7e-114 PFAM
Pfam:PFK 411 696 1.2e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133041
SMART Domains Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196

DomainStartEndE-ValueType
Pfam:PFK 1 66 4.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138703
AA Change: W750R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: W750R

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:PFK 24 334 6.7e-136 PFAM
Pfam:PFK 410 698 1.1e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142972
AA Change: W151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114439
Gene: ENSMUSG00000021196
AA Change: W151R

DomainStartEndE-ValueType
PDB:4OMT|A 1 179 2e-68 PDB
SCOP:d1pfka_ 2 158 7e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154100
Predicted Effect probably benign
Transcript: ENSMUST00000222485
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
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 phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C T 1: 37,612,280 (GRCm38) D1169N possibly damaging Het
Ankrd6 T A 4: 32,815,260 (GRCm38) Q448L possibly damaging Het
Appl1 A G 14: 26,928,677 (GRCm38) S513P possibly damaging Het
Cdhr2 A T 13: 54,733,321 (GRCm38) K1066* probably null Het
Ckap5 T C 2: 91,577,601 (GRCm38) I824T probably benign Het
Ctbp2 T C 7: 133,015,102 (GRCm38) R35G possibly damaging Het
Dcdc2c T C 12: 28,470,494 (GRCm38) probably benign Het
Eya1 T A 1: 14,231,410 (GRCm38) probably null Het
Fam105a A G 15: 27,657,235 (GRCm38) probably benign Het
Fam207a T C 10: 77,514,392 (GRCm38) D35G possibly damaging Het
Fat4 G C 3: 39,010,810 (GRCm38) A4972P probably benign Het
Fat4 C T 3: 39,010,811 (GRCm38) A4972V probably benign Het
Fbxl8 T A 8: 105,267,015 (GRCm38) M1K probably null Het
Glyat T C 19: 12,650,265 (GRCm38) S75P probably benign Het
Gm3543 T A 14: 41,980,066 (GRCm38) I154F probably damaging Het
Gm4565 T A 7: 22,583,370 (GRCm38) M8L probably benign Het
Gpr179 T C 11: 97,349,790 (GRCm38) Q269R probably benign Het
Hfe2 C A 3: 96,527,474 (GRCm38) H176Q possibly damaging Het
Ikzf2 T C 1: 69,538,901 (GRCm38) H483R possibly damaging Het
Il25 G A 14: 54,933,158 (GRCm38) A63T probably benign Het
Krt27 T A 11: 99,346,814 (GRCm38) N366I probably benign Het
Mfge8 A G 7: 79,142,520 (GRCm38) V219A probably benign Het
Nrbp1 T C 5: 31,249,946 (GRCm38) V373A probably damaging Het
Olfr1186 A G 2: 88,526,486 (GRCm38) N301S probably benign Het
Pcdh20 A G 14: 88,469,171 (GRCm38) I231T probably damaging Het
Pikfyve T C 1: 65,246,854 (GRCm38) I1084T probably benign Het
Poteg T C 8: 27,449,895 (GRCm38) C27R probably damaging Het
Ptprz1 G A 6: 23,044,346 (GRCm38) V1266M probably damaging Het
Rpa1 T C 11: 75,312,802 (GRCm38) D358G probably damaging Het
Snapc4 A G 2: 26,369,953 (GRCm38) S495P probably damaging Het
Surf6 A G 2: 26,899,356 (GRCm38) I123T probably damaging Het
Sybu A T 15: 44,677,695 (GRCm38) S324T possibly damaging Het
Trim3 A T 7: 105,618,214 (GRCm38) S319R probably damaging Het
Trmt11 A G 10: 30,590,934 (GRCm38) F72L probably benign Het
Tsks C T 7: 44,943,792 (GRCm38) R61W probably damaging Het
Ube2k T C 5: 65,581,429 (GRCm38) V36A possibly damaging Het
Ube3a T C 7: 59,288,413 (GRCm38) V688A probably damaging Het
Vegfc A G 8: 54,157,045 (GRCm38) K79E possibly damaging Het
Vmn1r77 G A 7: 12,041,834 (GRCm38) R179Q probably benign Het
Vmn2r97 T A 17: 18,914,367 (GRCm38) F16I probably benign Het
Zfp451 A T 1: 33,802,167 (GRCm38) probably benign Het
Zfp600 C T 4: 146,195,322 (GRCm38) Q187* probably null Het
Other mutations in Pfkp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Pfkp APN 13 6,619,550 (GRCm38) missense probably damaging 1.00
IGL00983:Pfkp APN 13 6,581,567 (GRCm38) missense probably damaging 1.00
IGL01099:Pfkp APN 13 6,603,390 (GRCm38) splice site probably benign
IGL01825:Pfkp APN 13 6,620,978 (GRCm38) missense probably damaging 1.00
IGL02164:Pfkp APN 13 6,597,915 (GRCm38) missense probably damaging 1.00
IGL02331:Pfkp APN 13 6,597,960 (GRCm38) missense probably benign 0.33
IGL02680:Pfkp APN 13 6,600,672 (GRCm38) unclassified probably benign
IGL02852:Pfkp APN 13 6,605,023 (GRCm38) missense possibly damaging 0.57
R0414:Pfkp UTSW 13 6,593,210 (GRCm38) missense probably benign 0.03
R0542:Pfkp UTSW 13 6,621,992 (GRCm38) nonsense probably null
R0612:Pfkp UTSW 13 6,605,634 (GRCm38) critical splice donor site probably null
R0767:Pfkp UTSW 13 6,605,012 (GRCm38) missense probably damaging 0.98
R1417:Pfkp UTSW 13 6,605,719 (GRCm38) missense probably benign 0.00
R1534:Pfkp UTSW 13 6,619,538 (GRCm38) missense probably damaging 1.00
R1612:Pfkp UTSW 13 6,588,589 (GRCm38) missense probably damaging 1.00
R2278:Pfkp UTSW 13 6,619,209 (GRCm38) splice site probably null
R2919:Pfkp UTSW 13 6,593,243 (GRCm38) missense probably damaging 0.98
R2996:Pfkp UTSW 13 6,635,930 (GRCm38) missense probably benign 0.01
R4214:Pfkp UTSW 13 6,619,225 (GRCm38) missense probably damaging 0.99
R4374:Pfkp UTSW 13 6,620,989 (GRCm38) missense probably damaging 1.00
R4693:Pfkp UTSW 13 6,600,635 (GRCm38) missense possibly damaging 0.91
R5534:Pfkp UTSW 13 6,648,583 (GRCm38) missense probably damaging 1.00
R5537:Pfkp UTSW 13 6,619,242 (GRCm38) missense probably damaging 1.00
R5619:Pfkp UTSW 13 6,598,729 (GRCm38) unclassified probably benign
R5677:Pfkp UTSW 13 6,588,595 (GRCm38) missense probably damaging 1.00
R6038:Pfkp UTSW 13 6,597,969 (GRCm38) missense probably benign 0.14
R6038:Pfkp UTSW 13 6,597,969 (GRCm38) missense probably benign 0.14
R6216:Pfkp UTSW 13 6,619,188 (GRCm38) missense probably benign 0.00
R6330:Pfkp UTSW 13 6,585,250 (GRCm38) unclassified probably benign
R6676:Pfkp UTSW 13 6,586,539 (GRCm38) missense possibly damaging 0.74
R7146:Pfkp UTSW 13 6,602,781 (GRCm38) missense probably benign 0.00
R7193:Pfkp UTSW 13 6,593,216 (GRCm38) missense probably benign 0.00
R7588:Pfkp UTSW 13 6,648,637 (GRCm38) missense possibly damaging 0.81
R7611:Pfkp UTSW 13 6,605,083 (GRCm38) critical splice acceptor site probably null
R7821:Pfkp UTSW 13 6,597,872 (GRCm38) missense probably damaging 1.00
R8196:Pfkp UTSW 13 6,605,662 (GRCm38) missense probably benign 0.00
R8542:Pfkp UTSW 13 6,581,521 (GRCm38) missense possibly damaging 0.56
R9028:Pfkp UTSW 13 6,605,689 (GRCm38) missense probably damaging 0.98
R9338:Pfkp UTSW 13 6,584,688 (GRCm38) missense probably damaging 1.00
Z1177:Pfkp UTSW 13 6,619,252 (GRCm38) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- ATGCTTGCTTCCATAAAGTGCTG -3'
(R):5'- GGGCCCTAGGTTTAATCTCTAGTG -3'

Sequencing Primer
(F):5'- GCTTCCATAAAGTGCTGATAAATAAC -3'
(R):5'- CATAATACACTGGATATGGCGGTCC -3'
Posted On 2019-05-13