|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 5|
|Is this an essential gene?||Possibly non essential (E-score: 0.443)|
|Stock #||R7736 (G1)|
|Chromosomal Location||75775364-75900310 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 75893790 bp|
|Amino Acid Change||Isoleucine to Leucine at position 401 (I401L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000012281 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000012281]|
|Predicted Effect||probably damaging
AA Change: I401L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: I401L
|Coding Region Coverage||
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. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bmp5||
(F):5'- CCTCTTGGGAGAAATTAGAAAGGAC -3'
(R):5'- GAGAGCAGGATTATTGATTTAAGCC -3'
(F):5'- GCGGAACTTTTAGAATAATTGTTGG -3'
(R):5'- CCCATAATTGTTGCTCCAG -3'