Incidental Mutation 'R7821:Pfkp'
ID 601887
Institutional Source Beutler Lab
Gene Symbol Pfkp
Ensembl Gene ENSMUSG00000021196
Gene Name phosphofructokinase, platelet
Synonyms PFK-C, 9330125N24Rik, 1200015H23Rik
MMRRC Submission 045875-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R7821 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 6629804-6698813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6647908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 556 (N556I)
Ref Sequence ENSEMBL: ENSMUSP00000117030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000138703] [ENSMUST00000154100]
AlphaFold Q9WUA3
Predicted Effect probably benign
Transcript: ENSMUST00000021614
SMART Domains Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196

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
SMART Domains Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196
AA Change: N54I

DomainStartEndE-ValueType
Pfam:PFK 1 66 4.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138703
AA Change: N556I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: N556I

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 unknown
Transcript: ENSMUST00000154100
AA Change: N3I
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (61/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,120,929 (GRCm39) T112S probably damaging Het
Abca12 G T 1: 71,298,950 (GRCm39) S2320R probably benign Het
Abca7 TGGTGCGTGAG TG 10: 79,838,424 (GRCm39) probably benign Het
Adh7 T A 3: 137,932,136 (GRCm39) I250N probably damaging Het
Albfm1 T C 5: 90,740,747 (GRCm39) V560A possibly damaging Het
Aoc1 T A 6: 48,882,745 (GRCm39) I229N probably damaging Het
C2cd6 A T 1: 59,106,951 (GRCm39) Y291* probably null Het
Cacnb4 T C 2: 52,324,520 (GRCm39) D514G possibly damaging Het
Ccdc202 A G 14: 96,119,486 (GRCm39) Q81R possibly damaging Het
Clec2g A G 6: 128,925,740 (GRCm39) T50A probably benign Het
Col6a5 T C 9: 105,741,458 (GRCm39) E2487G probably damaging Het
D130040H23Rik A T 8: 69,752,887 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,087,879 (GRCm39) S14N unknown Het
Dchs1 G A 7: 105,414,352 (GRCm39) T821I probably benign Het
Dhcr24 T C 4: 106,428,633 (GRCm39) S138P possibly damaging Het
Dhrs9 G A 2: 69,224,782 (GRCm39) G157R probably damaging Het
Dnah5 T A 15: 28,411,678 (GRCm39) D3682E possibly damaging Het
Dst T C 1: 34,314,443 (GRCm39) probably null Het
Fat1 A T 8: 45,403,261 (GRCm39) H4L probably benign Het
Flnb A G 14: 7,939,113 (GRCm38) I2319V probably benign Het
Foxe1 T C 4: 46,344,578 (GRCm39) W129R probably damaging Het
Foxred2 G A 15: 77,827,550 (GRCm39) P603L probably benign Het
Fshr A G 17: 89,293,641 (GRCm39) S346P probably damaging Het
Galnt2 T A 8: 125,070,134 (GRCm39) S550R possibly damaging Het
Gpc2 A G 5: 138,274,559 (GRCm39) S312P probably benign Het
Gpr150 C A 13: 76,204,511 (GRCm39) A145S probably benign Het
Grk4 T A 5: 34,867,553 (GRCm39) W173R probably damaging Het
Hoxb9 C G 11: 96,162,537 (GRCm39) P57R probably damaging Het
Hsf5 A G 11: 87,528,954 (GRCm39) Q563R probably benign Het
Ighv1-58 A G 12: 115,275,796 (GRCm39) F114S possibly damaging Het
Klra9 T A 6: 130,162,563 (GRCm39) I158F probably damaging Het
Lrrc8d T C 5: 105,960,210 (GRCm39) S207P probably damaging Het
Nbeal2 T C 9: 110,459,320 (GRCm39) E1929G probably damaging Het
Ncoa1 A G 12: 4,346,221 (GRCm39) M89T probably benign Het
Nkx2-4 T C 2: 146,927,208 (GRCm39) I20V probably benign Het
Nup214 T C 2: 31,916,917 (GRCm39) S1191P possibly damaging Het
Or2n1d A G 17: 38,646,855 (GRCm39) D269G probably benign Het
Pidd1 A T 7: 141,022,193 (GRCm39) S199T probably benign Het
Pik3r2 T A 8: 71,222,408 (GRCm39) I515F probably damaging Het
Plcxd2 T A 16: 45,785,524 (GRCm39) I294F probably damaging Het
Prmt6 C A 3: 110,158,303 (GRCm39) probably benign Het
Prpf8 A G 11: 75,385,300 (GRCm39) I812V probably benign Het
Rasa2 T C 9: 96,462,537 (GRCm39) probably null Het
Rsad1 A C 11: 94,435,288 (GRCm39) D266E probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Shroom3 T A 5: 93,088,705 (GRCm39) V485E probably damaging Het
Siae T A 9: 37,556,196 (GRCm39) Y451N probably damaging Het
Slc7a11 A T 3: 50,335,476 (GRCm39) I354N probably damaging Het
Spryd7 A T 14: 61,783,129 (GRCm39) probably null Het
Srcap A G 7: 127,129,499 (GRCm39) probably benign Het
Svep1 T A 4: 58,179,601 (GRCm39) D214V probably damaging Het
Tmtc4 T C 14: 123,209,289 (GRCm39) I119V probably benign Het
Trim5 G A 7: 103,927,633 (GRCm39) T169I probably benign Het
Ttc33 T C 15: 5,241,506 (GRCm39) F83S probably benign Het
Ubr5 A T 15: 37,997,431 (GRCm39) S1741T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdcp A G 12: 4,907,975 (GRCm39) N694S probably benign Het
Zfp174 T A 16: 3,666,041 (GRCm39) I102N probably damaging Het
Zfp354a T C 11: 50,960,539 (GRCm39) F248S probably damaging Het
Zfyve26 A T 12: 79,302,098 (GRCm39) C404S probably damaging Het
Zmynd8 A T 2: 165,723,000 (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
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
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'- TGGAGTCAAGTCATGCGAGC -3'
(R):5'- TCCCAGAAAGCTGCTTGTCC -3'

Sequencing Primer
(F):5'- GGGGGCAATTAAATTAAGCATTTTC -3'
(R):5'- AGAAAGCTGCTTGTCCTTGTC -3'
Posted On 2019-12-03