|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenetic protein 5|
|Is this an essential gene?||Possibly essential (E-score: 0.555)|
|Stock #||R5159 (G1)|
|Chromosomal Location||75775364-75900310 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75893753 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 388 (F388L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000012281 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000012281]|
|Predicted Effect||probably damaging
AA Change: F388L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F388L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.8337|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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'- ACCCATAATTGTTGCTCCAGC -3'
(F):5'- GCGGAACTTTTAGAATAATTGTTGG -3'
(R):5'- GTTGCTCCAGCTACAAGTTACAAAGG -3'