Incidental Mutation 'R2278:Pfkp'
ID 242921
Institutional Source Beutler Lab
Gene Symbol Pfkp
Ensembl Gene ENSMUSG00000021196
Gene Name phosphofructokinase, platelet
Synonyms PFK-C, 9330125N24Rik, 1200015H23Rik
MMRRC Submission 040277-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 6629804-6698813 bp(-) (GRCm39)
Type of Mutation splice site (1681 bp from exon)
DNA Base Change (assembly) T to C at 6669245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000136585] [ENSMUST00000138703]
AlphaFold Q9WUA3
Predicted Effect probably benign
Transcript: ENSMUST00000021614
AA Change: D246G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: D246G

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 noncoding transcript
Transcript: ENSMUST00000135761
Predicted Effect probably null
Transcript: ENSMUST00000136585
SMART Domains Protein: ENSMUSP00000115313
Gene: ENSMUSG00000021196

DomainStartEndE-ValueType
Pfam:PFK 1 167 1.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137327
Predicted Effect probably benign
Transcript: ENSMUST00000138703
AA Change: D246G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: D246G

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 noncoding transcript
Transcript: ENSMUST00000148999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151894
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Aqp3 T C 4: 41,093,836 (GRCm39) D219G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Mknk1 C T 4: 115,732,690 (GRCm39) A306V probably damaging Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Rps27l T A 9: 66,854,208 (GRCm39) D34E probably benign Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc11a2 A G 15: 100,307,962 (GRCm39) probably null Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) probably benign Het
Other mutations in Pfkp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Pfkp APN 13 6,669,586 (GRCm39) missense probably damaging 1.00
IGL00983:Pfkp APN 13 6,631,603 (GRCm39) missense probably damaging 1.00
IGL01099:Pfkp APN 13 6,653,426 (GRCm39) splice site probably benign
IGL01825:Pfkp APN 13 6,671,014 (GRCm39) missense probably damaging 1.00
IGL02164:Pfkp APN 13 6,647,951 (GRCm39) missense probably damaging 1.00
IGL02331:Pfkp APN 13 6,647,996 (GRCm39) missense probably benign 0.33
IGL02680:Pfkp APN 13 6,650,708 (GRCm39) unclassified probably benign
IGL02852:Pfkp APN 13 6,655,059 (GRCm39) missense possibly damaging 0.57
R0414:Pfkp UTSW 13 6,643,246 (GRCm39) missense probably benign 0.03
R0542:Pfkp UTSW 13 6,672,028 (GRCm39) nonsense probably null
R0612:Pfkp UTSW 13 6,655,670 (GRCm39) critical splice donor site probably null
R0767:Pfkp UTSW 13 6,655,048 (GRCm39) missense probably damaging 0.98
R1417:Pfkp UTSW 13 6,655,755 (GRCm39) missense probably benign 0.00
R1534:Pfkp UTSW 13 6,669,574 (GRCm39) missense probably damaging 1.00
R1612:Pfkp UTSW 13 6,638,625 (GRCm39) missense probably damaging 1.00
R2919:Pfkp UTSW 13 6,643,279 (GRCm39) missense probably damaging 0.98
R2996:Pfkp UTSW 13 6,685,966 (GRCm39) missense probably benign 0.01
R4214:Pfkp UTSW 13 6,669,261 (GRCm39) missense probably damaging 0.99
R4374:Pfkp UTSW 13 6,671,025 (GRCm39) missense probably damaging 1.00
R4693:Pfkp UTSW 13 6,650,671 (GRCm39) missense possibly damaging 0.91
R5534:Pfkp UTSW 13 6,698,619 (GRCm39) missense probably damaging 1.00
R5537:Pfkp UTSW 13 6,669,278 (GRCm39) missense probably damaging 1.00
R5619:Pfkp UTSW 13 6,648,765 (GRCm39) unclassified probably benign
R5677:Pfkp UTSW 13 6,638,631 (GRCm39) missense probably damaging 1.00
R6038:Pfkp UTSW 13 6,648,005 (GRCm39) missense probably benign 0.14
R6038:Pfkp UTSW 13 6,648,005 (GRCm39) missense probably benign 0.14
R6216:Pfkp UTSW 13 6,669,224 (GRCm39) missense probably benign 0.00
R6330:Pfkp UTSW 13 6,635,286 (GRCm39) unclassified probably benign
R6676:Pfkp UTSW 13 6,636,575 (GRCm39) missense possibly damaging 0.74
R7044:Pfkp UTSW 13 6,631,603 (GRCm39) missense probably damaging 1.00
R7146:Pfkp UTSW 13 6,652,817 (GRCm39) missense probably benign 0.00
R7193:Pfkp UTSW 13 6,643,252 (GRCm39) missense probably benign 0.00
R7588:Pfkp UTSW 13 6,698,673 (GRCm39) missense possibly damaging 0.81
R7611:Pfkp UTSW 13 6,655,119 (GRCm39) critical splice acceptor site probably null
R7821:Pfkp UTSW 13 6,647,908 (GRCm39) missense probably damaging 1.00
R8196:Pfkp UTSW 13 6,655,698 (GRCm39) missense probably benign 0.00
R8542:Pfkp UTSW 13 6,631,557 (GRCm39) missense possibly damaging 0.56
R9028:Pfkp UTSW 13 6,655,725 (GRCm39) missense probably damaging 0.98
R9338:Pfkp UTSW 13 6,634,724 (GRCm39) missense probably damaging 1.00
Z1177:Pfkp UTSW 13 6,669,288 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- GCAACATCAGCCTACACTGG -3'
(R):5'- ATAGCTGTCAAAGGTTGTCTCTG -3'

Sequencing Primer
(F):5'- TGGCAGATCCTTGCCAACAG -3'
(R):5'- CAAAGGTTGTCTCTGGTCATAAG -3'
Posted On 2014-10-16