|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5587 (G1)|
|Chromosomal Location||133552159-133562885 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 133554646 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 74 (V74E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028836 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028836]|
|Predicted Effect||possibly damaging
AA Change: V74E
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: V74E
|Meta Mutation Damage Score||0.4619|
|Coding Region Coverage||
|Validation Efficiency||96% (78/81)|
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 each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. While a homozygous knockout mouse for this gene exhibits embryonic lethality, conditional knockout mice have defects in bone, cartilage and heart development. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp2||
(F):5'- TAGTGTTGCTGCTTCCCCAG -3'
(R):5'- GAAAGGCCTTCTACTGTGCTAGTG -3'
(F):5'- GCTGCTTCCCCAGGTCCTC -3'
(R):5'- CTACTGTGCTAGTGGAGGCC -3'