Incidental Mutation 'R0414:Pfkp'
ID 40184
Institutional Source Beutler Lab
Gene Symbol Pfkp
Ensembl Gene ENSMUSG00000021196
Gene Name phosphofructokinase, platelet
Synonyms PFK-C, 9330125N24Rik, 1200015H23Rik
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 6629804-6698813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6643246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 524 (H524L)
Ref Sequence ENSEMBL: ENSMUSP00000021614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000138703] [ENSMUST00000154100]
AlphaFold Q9WUA3
Predicted Effect probably benign
Transcript: ENSMUST00000021614
AA Change: H524L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: H524L

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: ENSMUST00000131648
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 benign
Transcript: ENSMUST00000138703
SMART Domains Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196

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: ENSMUST00000142372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151894
Predicted Effect probably benign
Transcript: ENSMUST00000154100
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A 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
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
R2278:Pfkp UTSW 13 6,669,245 (GRCm39) splice site probably null
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'- TTTGAGCTGTCAGGAGGGCTAAATG -3'
(R):5'- CCCAGTGGCCTGTGAATAGTTGAAG -3'

Sequencing Primer
(F):5'- TAAATGGAGGAGAACAACCCC -3'
(R):5'- AGATGCCAATTCTGGCCTC -3'
Posted On 2013-05-23