Incidental Mutation 'R5537:Pfkp'
ID 434892
Institutional Source Beutler Lab
Gene Symbol Pfkp
Ensembl Gene ENSMUSG00000021196
Gene Name phosphofructokinase, platelet
Synonyms PFK-C, 9330125N24Rik, 1200015H23Rik
MMRRC Submission 043095-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R5537 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 6629804-6698813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6669278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 235 (W235L)
Ref Sequence ENSEMBL: ENSMUSP00000021614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000136585] [ENSMUST00000138703]
AlphaFold Q9WUA3
Predicted Effect probably damaging
Transcript: ENSMUST00000021614
AA Change: W235L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: W235L

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 benign
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 damaging
Transcript: ENSMUST00000138703
AA Change: W235L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: W235L

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 9,005,485 (GRCm39) I1123F probably damaging Het
Acsl3 C T 1: 78,684,073 (GRCm39) R702C probably damaging Het
Ank1 A G 8: 23,604,892 (GRCm39) E1031G probably damaging Het
Ankle2 T C 5: 110,397,361 (GRCm39) S536P probably damaging Het
Arfgef2 G T 2: 166,698,513 (GRCm39) probably null Het
Bahd1 G T 2: 118,746,461 (GRCm39) D27Y probably damaging Het
Brinp2 C T 1: 158,082,583 (GRCm39) V246I probably damaging Het
Ccdc187 C A 2: 26,166,237 (GRCm39) A731S probably benign Het
Cdc37l1 T A 19: 28,972,518 (GRCm39) N70K probably damaging Het
Cdk5r1 A G 11: 80,368,825 (GRCm39) Y164C probably damaging Het
Clrn3 A T 7: 135,115,791 (GRCm39) H186Q probably benign Het
Col12a1 G A 9: 79,606,872 (GRCm39) T517I probably damaging Het
Crhr1 T A 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Dst C T 1: 34,228,959 (GRCm39) S2362L probably benign Het
Eapp G A 12: 54,738,844 (GRCm39) T98I probably benign Het
Iqsec3 T C 6: 121,389,603 (GRCm39) probably benign Het
Kctd12 A G 14: 103,219,713 (GRCm39) V55A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lgr5 T C 10: 115,292,594 (GRCm39) D432G probably benign Het
Mrgprx1 T A 7: 47,670,898 (GRCm39) H283L probably benign Het
Nlrp4e T C 7: 23,019,914 (GRCm39) F134L probably benign Het
Or1e34 T C 11: 73,778,523 (GRCm39) K225R probably benign Het
Or4f14b A T 2: 111,775,393 (GRCm39) M136K probably damaging Het
Or5m5 T A 2: 85,814,570 (GRCm39) Y129N possibly damaging Het
Or8b43 T A 9: 38,360,538 (GRCm39) Y123* probably null Het
Prom1 C T 5: 44,158,118 (GRCm39) probably null Het
Psma5-ps A G 10: 85,149,913 (GRCm39) noncoding transcript Het
Rab14 A T 2: 35,082,649 (GRCm39) F12L possibly damaging Het
Rnf40 T A 7: 127,195,261 (GRCm39) I429N probably benign Het
S100pbp G A 4: 129,075,981 (GRCm39) P115S probably benign Het
Scarf1 G A 11: 75,416,357 (GRCm39) A600T probably damaging Het
Slc6a5 T C 7: 49,609,059 (GRCm39) F755L probably benign Het
Slc7a2 A T 8: 41,367,023 (GRCm39) I510F probably benign Het
Spag16 T C 1: 69,866,175 (GRCm39) S5P probably benign Het
Tex15 A G 8: 34,061,641 (GRCm39) Y631C probably damaging Het
Tmem182 A T 1: 40,894,069 (GRCm39) I195F probably benign Het
Tox A G 4: 6,697,510 (GRCm39) L431P probably damaging Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Tsg101 T C 7: 46,540,876 (GRCm39) K294E probably benign Het
Tubb2a C A 13: 34,259,434 (GRCm39) V119L probably benign Het
Vps37d C T 5: 135,103,256 (GRCm39) E129K possibly damaging Het
Zfp974 TAATCTGTCTCCAAATCTG TAATCTG 7: 27,611,671 (GRCm39) probably benign Het
Zpld1 A G 16: 55,054,003 (GRCm39) V263A possibly 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
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
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'- CTACACTGGCAGATCCTTGC -3'
(R):5'- GCAGTCTCAAAGGACCCAGAAG -3'

Sequencing Primer
(F):5'- TGGCAGATCCTTGCCAACAG -3'
(R):5'- ACCCAGAAGAGCCCCTGTG -3'
Posted On 2016-10-24