Incidental Mutation 'R0542:Pfkp'
ID 50001
Institutional Source Beutler Lab
Gene Symbol Pfkp
Ensembl Gene ENSMUSG00000021196
Gene Name phosphofructokinase, platelet
Synonyms PFK-C, 9330125N24Rik, 1200015H23Rik
MMRRC Submission 038734-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R0542 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 6629804-6698813 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 6672028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 122 (C122*)
Ref Sequence ENSEMBL: ENSMUSP00000117030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000136585] [ENSMUST00000138703]
AlphaFold Q9WUA3
Predicted Effect probably null
Transcript: ENSMUST00000021614
AA Change: C122*
SMART Domains Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: C122*

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
AA Change: C85*
SMART Domains Protein: ENSMUSP00000115313
Gene: ENSMUSG00000021196
AA Change: C85*

DomainStartEndE-ValueType
Pfam:PFK 1 167 1.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137327
Predicted Effect probably null
Transcript: ENSMUST00000138703
AA Change: C122*
SMART Domains Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: C122*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b C A 12: 70,210,269 (GRCm39) N71K possibly damaging Het
Adgrl2 A G 3: 148,564,854 (GRCm39) I242T probably damaging Het
Adgrv1 A G 13: 81,721,437 (GRCm39) S714P probably damaging Het
Agap3 G A 5: 24,705,184 (GRCm39) R704Q possibly damaging Het
Ankrd11 T C 8: 123,622,509 (GRCm39) R448G probably damaging Het
Anks1b T C 10: 89,909,829 (GRCm39) probably benign Het
Caml A T 13: 55,770,974 (GRCm39) Q24L possibly damaging Het
Cdc14b G A 13: 64,391,497 (GRCm39) T124I probably benign Het
Clca3a2 A G 3: 144,781,571 (GRCm39) probably benign Het
Col12a1 A G 9: 79,512,610 (GRCm39) probably null Het
Crispld1 T C 1: 17,816,992 (GRCm39) V183A possibly damaging Het
Cstdc1 A G 2: 148,624,092 (GRCm39) N22S probably benign Het
Dhx40 C T 11: 86,695,082 (GRCm39) probably null Het
Dmxl1 T A 18: 50,026,761 (GRCm39) D1956E probably benign Het
Dsc2 A G 18: 20,184,283 (GRCm39) V35A probably damaging Het
Dync2i2 A G 2: 29,921,837 (GRCm39) V508A probably damaging Het
Elovl2 A G 13: 41,345,452 (GRCm39) probably benign Het
Gapvd1 T C 2: 34,615,048 (GRCm39) probably benign Het
Gnaq T A 19: 16,196,982 (GRCm39) I56N probably damaging Het
Gpr139 T C 7: 118,744,306 (GRCm39) D93G probably benign Het
Hars1 C T 18: 36,904,234 (GRCm39) R215H probably benign Het
Helz2 C A 2: 180,873,882 (GRCm39) W2204L probably damaging Het
Ift70b A G 2: 75,767,055 (GRCm39) V566A probably damaging Het
Itgb6 A T 2: 60,435,480 (GRCm39) C757S possibly damaging Het
Kpnb1 G A 11: 97,078,398 (GRCm39) T5I probably benign Het
Krt82 T C 15: 101,454,035 (GRCm39) probably benign Het
Lgals9 T A 11: 78,860,546 (GRCm39) K175N possibly damaging Het
Lrp2 A G 2: 69,258,998 (GRCm39) I4564T probably benign Het
Mblac1 A G 5: 138,192,798 (GRCm39) T47A possibly damaging Het
Med12l G A 3: 58,949,822 (GRCm39) D182N probably damaging Het
Megf9 A G 4: 70,353,585 (GRCm39) I407T probably benign Het
Mtmr6 A T 14: 60,529,578 (GRCm39) probably null Het
Mtor A G 4: 148,624,907 (GRCm39) T2173A probably benign Het
Mzt1 A T 14: 99,277,938 (GRCm39) probably benign Het
Narf T C 11: 121,143,690 (GRCm39) L444P probably damaging Het
Nsd1 A T 13: 55,408,271 (GRCm39) Q1305L possibly damaging Het
Ntsr1 A G 2: 180,184,374 (GRCm39) Y359C probably damaging Het
Olfm1 A G 2: 28,104,640 (GRCm39) D159G possibly damaging Het
Or2l13b A T 16: 19,348,732 (GRCm39) *313R probably null Het
Pcdh1 C T 18: 38,322,975 (GRCm39) V953I probably damaging Het
Pcdhb11 A T 18: 37,556,887 (GRCm39) D739V probably damaging Het
Pdgfd A G 9: 6,359,769 (GRCm39) N280S probably damaging Het
Per2 A T 1: 91,366,054 (GRCm39) probably null Het
Plxna4 G A 6: 32,169,232 (GRCm39) R1322W probably damaging Het
Ppox A G 1: 171,106,818 (GRCm39) L202P probably damaging Het
Ppp1r3e G A 14: 55,114,588 (GRCm39) P58L probably benign Het
Prr23a2 A C 9: 98,739,086 (GRCm39) N148T probably benign Het
Psd T C 19: 46,302,649 (GRCm39) T842A probably damaging Het
Ranbp2 C T 10: 58,314,236 (GRCm39) A1652V probably benign Het
Rragd G A 4: 33,007,103 (GRCm39) V144M probably damaging Het
Sema6a T G 18: 47,381,643 (GRCm39) D968A probably damaging Het
Slc30a5 A T 13: 100,945,793 (GRCm39) probably null Het
Snx17 G T 5: 31,353,895 (GRCm39) probably null Het
Styxl2 A T 1: 165,928,853 (GRCm39) M253K possibly damaging Het
Syt14 G T 1: 192,613,111 (GRCm39) T563K probably damaging Het
Tada3 T C 6: 113,352,175 (GRCm39) K85E probably damaging Het
Tspear T C 10: 77,716,921 (GRCm39) V532A probably benign Het
Ttn A T 2: 76,723,453 (GRCm39) C6426S possibly damaging Het
Unc79 T C 12: 103,060,437 (GRCm39) probably benign Het
Usp19 A G 9: 108,371,584 (GRCm39) probably null Het
Vav3 G A 3: 109,434,746 (GRCm39) D426N probably damaging Het
Vezt T C 10: 93,842,958 (GRCm39) probably null Het
Vldlr G T 19: 27,213,655 (GRCm39) R114L probably benign Het
Wwc2 C T 8: 48,321,414 (GRCm39) V567I unknown Het
Zfp423 T C 8: 88,507,237 (GRCm39) T911A probably damaging Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zkscan16 A T 4: 58,956,597 (GRCm39) H293L possibly damaging Het
Zkscan6 A C 11: 65,719,525 (GRCm39) N515T possibly damaging Het
Znfx1 A G 2: 166,897,575 (GRCm39) S450P probably damaging 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
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'- GGCACAATGTGTTACTTCCGAAGC -3'
(R):5'- CATCCATCTTTCACGGGTATCAGGC -3'

Sequencing Primer
(F):5'- GTTACTTCCGAAGCTCTTAAAAAGC -3'
(R):5'- CTTTAGGGACTTCCACTAAAGGTAGG -3'
Posted On 2013-06-12