|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 10|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2158 (G1)|
|Chromosomal Location||87428994-87437677 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 87434080 bp|
|Amino Acid Change||Aspartic acid to Valine at position 285 (D285V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032125 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032125]|
|Predicted Effect||probably benign
AA Change: D285V
PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: D285V
|Meta Mutation Damage Score||0.0940|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. Homozygous knockout mice for this gene exhibit impaired heart development and embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice display decreased embryo size, cardiac dysgenesis, defects in early embryonic vascular development, enlarged pericardium, arteriovenous malformations, and embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp10||
(F):5'- ACGTTGGCAAAAGTCAGGC -3'
(R):5'- TAGGCTTCATACCCAGGAGG -3'
(F):5'- CATCAGCTGGAGATCCACATAG -3'
(R):5'- CTTCATACCCAGGAGGAGCGATG -3'