|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 7|
|Synonyms||osteogenic protein 1, OP1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4392 (G1)|
|Chromosomal Location||172868012-172940321 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 172916542 bp|
|Amino Acid Change||Aspartic acid to Alanine at position 178 (D178A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000009143 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000009143]|
|Predicted Effect||probably benign
AA Change: D178A
PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D178A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1370|
|Coding Region Coverage||
|Validation Efficiency||95% (69/73)|
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. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016]
PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp7||
(F):5'- AACGGTTTGAAGGGACATTCAC -3'
(R):5'- CGAGTCAATGGCATGGACAG -3'
(F):5'- TCATCTGGACGAGGGCCTAAC -3'
(R):5'- CAGAAAGGAACCGGACACTAAATTG -3'