|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 5|
|Is this an essential gene?||Possibly essential (E-score: 0.543)|
|Stock #||R1291 (G1)|
|Chromosomal Location||75775364-75900310 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 75886673 bp|
|Amino Acid Change||Lysine to Stop codon at position 355 (K355*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000012281 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000012281]|
|Predicted Effect||probably null
AA Change: K355*
AA Change: K355*
|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'- TCAGTGAATGACAGCACCAGCC -3'
(R):5'- TCATCTGCAAATGCAAATGACTCATGC -3'
(F):5'- CCAGCCTATGCCTGATGTATAAATG -3'
(R):5'- TCCCTAGATAGTTGTTAAACCCAACC -3'