|Institutional Source||Beutler Lab|
|Gene Name||transforming growth factor, beta receptor III|
|Synonyms||betaglycan, TBRIII, 1110036H20Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8296 (G1)|
|Chromosomal Location||107106570-107289629 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 107139774 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 520 (N520D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031224]|
|Predicted Effect||probably damaging
AA Change: N520D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N520D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgfbr3||
(F):5'- TCCAGCTGAGAAAACAGGAC -3'
(R):5'- GTGGTTAAGCCCTCAGGTAACC -3'
(F):5'- GCTGAGAAAACAGGACCTTCAAATC -3'
(R):5'- AAGCCCTCAGGTAACCTTTGGTG -3'