Incidental Mutation 'R5825:Pdgfb'
ID 450141
Institutional Source Beutler Lab
Gene Symbol Pdgfb
Ensembl Gene ENSMUSG00000000489
Gene Name platelet derived growth factor, B polypeptide
Synonyms Sis, PDGF-B
MMRRC Submission 044053-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5825 (G1)
Quality Score 200
Status Not validated
Chromosome 15
Chromosomal Location 79880075-79899178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79881869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 213 (V213E)
Ref Sequence ENSEMBL: ENSMUSP00000000500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000500] [ENSMUST00000229795] [ENSMUST00000229912]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000500
AA Change: V213E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000000500
Gene: ENSMUSG00000000489
AA Change: V213E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:PDGF_N 21 93 1.1e-21 PFAM
PDGF 95 182 1.64e-42 SMART
low complexity region 207 219 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229168
Predicted Effect probably benign
Transcript: ENSMUST00000229795
Predicted Effect probably benign
Transcript: ENSMUST00000229912
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 83.6%
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 protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit absence of microvascular pericytes, capillary aneurisms, endothelial hyperplasia, edema, hemorrhages, erythroblastosis, macrocytic anemia, thrombocytopenia, kidney defects, and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,976 (GRCm39) Y217* probably null Het
Abca2 A T 2: 25,326,748 (GRCm39) I567F probably benign Het
Acss2 T A 2: 155,391,098 (GRCm39) probably null Het
Atxn7l2 C A 3: 108,112,127 (GRCm39) A320S probably damaging Het
Bfsp1 C T 2: 143,669,379 (GRCm39) G400D probably benign Het
Ces5a G T 8: 94,252,295 (GRCm39) A199D probably damaging Het
Cfhr4 T A 1: 139,702,336 (GRCm39) probably null Het
Chd2 A T 7: 73,134,350 (GRCm39) probably null Het
Crebbp A G 16: 3,905,606 (GRCm39) V1705A probably damaging Het
Cyp2j8 T A 4: 96,395,451 (GRCm39) Q58L probably benign Het
Dlec1 T A 9: 118,972,036 (GRCm39) I1379N probably damaging Het
Dnah9 T C 11: 66,017,427 (GRCm39) H593R probably benign Het
Ep300 T A 15: 81,495,673 (GRCm39) C412S probably benign Het
Fam110a A G 2: 151,811,961 (GRCm39) S270P probably damaging Het
Gcc2 A G 10: 58,130,643 (GRCm39) T1412A probably damaging Het
Helz2 T C 2: 180,874,449 (GRCm39) E2015G probably benign Het
Hormad1 T C 3: 95,469,870 (GRCm39) V39A probably damaging Het
Igf2 G T 7: 142,207,592 (GRCm39) H168Q probably damaging Het
Il18rap A G 1: 40,570,726 (GRCm39) T223A probably benign Het
Itpr2 T C 6: 146,045,647 (GRCm39) E2573G probably damaging Het
Jcad T A 18: 4,674,896 (GRCm39) V886E probably benign Het
Klra1 T C 6: 130,357,592 (GRCm39) R12G probably damaging Het
Lamb1 A G 12: 31,368,613 (GRCm39) I1248V probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk7 C T 11: 61,381,207 (GRCm39) R465Q possibly damaging Het
Mogs T C 6: 83,095,193 (GRCm39) V670A possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Ninl A T 2: 150,782,644 (GRCm39) I1182N probably damaging Het
Nup160 A G 2: 90,510,114 (GRCm39) probably null Het
Nynrin A G 14: 56,101,683 (GRCm39) R451G probably benign Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Or5h22 T C 16: 58,895,024 (GRCm39) I140V probably benign Het
Osbp A G 19: 11,948,085 (GRCm39) T131A probably damaging Het
Pcdhga12 A C 18: 37,901,556 (GRCm39) D796A possibly damaging Het
Pcdhgb8 G A 18: 37,895,289 (GRCm39) V120I probably benign Het
Phldb2 T C 16: 45,583,460 (GRCm39) M1013V probably benign Het
Pnma8a A G 7: 16,695,020 (GRCm39) S292G probably benign Het
Prrt4 A G 6: 29,177,182 (GRCm39) S196P probably benign Het
Rap1gds1 T C 3: 138,661,136 (GRCm39) M463V possibly damaging Het
Tmprss11g A T 5: 86,646,392 (GRCm39) S58R probably damaging Het
Traf3 C A 12: 111,221,795 (GRCm39) Q319K probably benign Het
Trappc8 C T 18: 21,006,977 (GRCm39) V194M probably damaging Het
Tyw1 A G 5: 130,296,929 (GRCm39) K182R probably damaging Het
Usp48 A G 4: 137,350,689 (GRCm39) T585A probably benign Het
Xkr6 G T 14: 64,056,481 (GRCm39) V387L probably benign Het
Yod1 T C 1: 130,646,743 (GRCm39) W207R probably damaging Het
Zdhhc8 T C 16: 18,046,538 (GRCm39) S63G probably null Het
Zfp827 A G 8: 79,905,645 (GRCm39) E874G probably damaging Het
Zfy1 T A Y: 726,531 (GRCm39) K411N possibly damaging Het
Other mutations in Pdgfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Pdgfb APN 15 79,898,184 (GRCm39) missense probably benign 0.02
R0390:Pdgfb UTSW 15 79,887,620 (GRCm39) splice site probably null
R4019:Pdgfb UTSW 15 79,885,923 (GRCm39) missense probably damaging 1.00
R6168:Pdgfb UTSW 15 79,884,587 (GRCm39) missense probably benign 0.00
R9204:Pdgfb UTSW 15 79,885,956 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTAAGTCACAGCCAGGGAG -3'
(R):5'- TAGAAAGACTCAGTCACGTCCC -3'

Sequencing Primer
(F):5'- TCACAGCCAGGGAGTAGCTG -3'
(R):5'- AGAGCTGTGGGGATTAACTTTGACC -3'
Posted On 2016-12-20