|Institutional Source||Beutler Lab|
|Gene Name||platelet derived growth factor receptor, beta polypeptide|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6807 (G1)|
|Chromosomal Location||61045150-61085061 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 61078649 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000110929 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025522] [ENSMUST00000115274]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9492|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
Strain: 2682393; 2135508
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdgfrb||
(F):5'- TTGCCTGTTCAAATCCACAAGC -3'
(R):5'- CTGAAGCCAAGGAGCAGTTG -3'
(F):5'- AAGACAGGGCTCTTCTAAGCTTATGG -3'
(R):5'- CAGTTGTGGGGGAAGACC -3'