|Institutional Source||Beutler Lab|
|Gene Name||platelet derived growth factor, B polypeptide|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0390 (G1)|
|Chromosomal Location||79995874-80014977 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 80003419 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000155133 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000500] [ENSMUST00000229795] [ENSMUST00000229912]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (110/112)|
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||
|Other mutations in Pdgfb||
(F):5'- TTGAGCCCAAACAGTGGGGAAC -3'
(R):5'- TTGTCAAGGCTCCAGAAGGCTGTG -3'
(F):5'- TAGTGTCCAATCCAGGATGGC -3'
(R):5'- CTGGAGGCTCTCAAAGATATAGTTAG -3'