Incidental Mutation 'R9539:Pf4'
ID 719802
Institutional Source Beutler Lab
Gene Symbol Pf4
Ensembl Gene ENSMUSG00000029373
Gene Name platelet factor 4
Synonyms Scyb4, Pf4, Cxcl4
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9539 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 90920362-90921242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90920891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 73 (V73D)
Ref Sequence ENSEMBL: ENSMUSP00000031320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031319] [ENSMUST00000031320] [ENSMUST00000202625]
AlphaFold Q9Z126
Predicted Effect probably benign
Transcript: ENSMUST00000031319
SMART Domains Protein: ENSMUSP00000031319
Gene: ENSMUSG00000029372

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCY 49 109 1.79e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000031320
AA Change: V73D

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031320
Gene: ENSMUSG00000029373
AA Change: V73D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SCY 41 102 1.02e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202625
AA Change: V73D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143818
Gene: ENSMUSG00000029373
AA Change: V73D

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
PDB:1F9R|D 37 77 1e-13 PDB
Blast:SCY 41 77 2e-18 BLAST
SCOP:d1tvxa_ 42 77 3e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
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 CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous and heterozygous null mice display increased platelet counts and reduced thrombus formation following vascular injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 G A 8: 41,827,584 (GRCm39) A13V probably benign Het
Bdh1 A G 16: 31,273,914 (GRCm39) T160A probably benign Het
Ccdc115 C T 1: 34,477,930 (GRCm39) probably null Het
Ccdc162 T A 10: 41,463,407 (GRCm39) E1445V possibly damaging Het
Ccdc88c T C 12: 100,901,993 (GRCm39) E1215G possibly damaging Het
Cep290 A T 10: 100,404,713 (GRCm39) E2358D probably damaging Het
Cog6 A G 3: 52,914,722 (GRCm39) S245P probably benign Het
Copb2 A T 9: 98,467,983 (GRCm39) probably null Het
Crtc1 T A 8: 70,892,115 (GRCm39) M32L probably benign Het
Dagla A C 19: 10,228,429 (GRCm39) probably null Het
Dph5 C A 3: 115,722,305 (GRCm39) P261Q probably damaging Het
Gpr137c T C 14: 45,516,187 (GRCm39) V307A probably damaging Het
Herpud2 A G 9: 25,041,936 (GRCm39) Y79H probably damaging Het
Ighg2b C T 12: 113,270,498 (GRCm39) V211I Het
Meioc C T 11: 102,565,506 (GRCm39) T318M probably damaging Het
Mterf4 T C 1: 93,229,188 (GRCm39) Y275C unknown Het
Mtfr1 T C 3: 19,271,422 (GRCm39) V198A probably benign Het
Ogfrl1 T A 1: 23,415,322 (GRCm39) I138F probably damaging Het
Pacc1 C T 1: 191,077,174 (GRCm39) Q166* probably null Het
Phldb1 T C 9: 44,627,482 (GRCm39) E321G probably damaging Het
Plch1 T C 3: 63,691,427 (GRCm39) S59G probably null Het
Pmfbp1 A G 8: 110,240,537 (GRCm39) I206M probably damaging Het
Ppp1r15a A G 7: 45,174,658 (GRCm39) V50A probably damaging Het
Ptprs T C 17: 56,725,715 (GRCm39) H1496R probably benign Het
Sardh T A 2: 27,134,298 (GRCm39) I73F probably damaging Het
Serpind1 G A 16: 17,157,638 (GRCm39) W278* probably null Het
Slit3 C T 11: 35,589,155 (GRCm39) Q1237* probably null Het
Smg1 T C 7: 117,744,976 (GRCm39) I3059V probably benign Het
Spart T A 3: 55,034,924 (GRCm39) W437R probably damaging Het
Spata6 C G 4: 111,685,526 (GRCm39) A477G possibly damaging Het
Suox A G 10: 128,507,383 (GRCm39) F215S probably damaging Het
Tcaf1 T C 6: 42,655,683 (GRCm39) N431S probably benign Het
Tgfbr3l G A 8: 4,299,679 (GRCm39) R154H probably damaging Het
Tll1 T C 8: 64,494,457 (GRCm39) K766R probably damaging Het
Tmem63b T A 17: 45,984,105 (GRCm39) K255* probably null Het
Tmem67 A T 4: 12,045,814 (GRCm39) L881H probably damaging Het
Tmem67 G T 4: 12,045,815 (GRCm39) L881I probably damaging Het
Tnrc6b A G 15: 80,760,544 (GRCm39) S84G probably damaging Het
Traf7 C T 17: 24,729,333 (GRCm39) V465M probably damaging Het
Ttn C T 2: 76,618,568 (GRCm39) V16239I probably damaging Het
Unc80 T C 1: 66,609,163 (GRCm39) probably null Het
Zc3h11a T C 1: 133,554,927 (GRCm39) E351G probably benign Het
Zfp942 T A 17: 22,148,014 (GRCm39) H205L probably damaging Het
Other mutations in Pf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Pf4 APN 5 90,921,114 (GRCm39) missense probably damaging 0.96
IGL02726:Pf4 APN 5 90,920,523 (GRCm39) missense probably benign 0.11
R7082:Pf4 UTSW 5 90,920,851 (GRCm39) missense possibly damaging 0.54
R7165:Pf4 UTSW 5 90,920,448 (GRCm39) missense probably benign
R9509:Pf4 UTSW 5 90,921,048 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAACCAAGCCTGTGGAAAG -3'
(R):5'- GGTCCAGGCAAATTTTCCTCC -3'

Sequencing Primer
(F):5'- GTACCACACCGGCAGATGATAG -3'
(R):5'- CCCATTCTTCAGGGTGGC -3'
Posted On 2022-07-18