Incidental Mutation 'R6749:Bmp5'
ID 532893
Institutional Source Beutler Lab
Gene Symbol Bmp5
Ensembl Gene ENSMUSG00000032179
Gene Name bone morphogenetic protein 5
Synonyms
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 75682646-75807592 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 75683375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000012281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012281]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000012281
AA Change: M1L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TGFb_propeptide 31 304 5.2e-94 PFAM
low complexity region 316 331 N/A INTRINSIC
TGFB 353 454 3.54e-69 SMART
Meta Mutation Damage Score 0.3160 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
MGI Phenotype 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
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign Het
Other mutations in Bmp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Bmp5 APN 9 75,746,895 (GRCm39) missense probably damaging 1.00
IGL02096:Bmp5 APN 9 75,805,833 (GRCm39) missense probably damaging 1.00
IGL02977:Bmp5 APN 9 75,801,081 (GRCm39) missense probably damaging 1.00
FR4976:Bmp5 UTSW 9 75,683,657 (GRCm39) small deletion probably benign
R1291:Bmp5 UTSW 9 75,793,955 (GRCm39) nonsense probably null
R1679:Bmp5 UTSW 9 75,746,877 (GRCm39) missense probably benign
R2049:Bmp5 UTSW 9 75,801,072 (GRCm39) missense probably damaging 1.00
R2278:Bmp5 UTSW 9 75,683,830 (GRCm39) missense possibly damaging 0.90
R5159:Bmp5 UTSW 9 75,801,035 (GRCm39) missense probably damaging 1.00
R5431:Bmp5 UTSW 9 75,800,991 (GRCm39) missense probably damaging 1.00
R5756:Bmp5 UTSW 9 75,683,649 (GRCm39) missense probably benign
R5884:Bmp5 UTSW 9 75,805,836 (GRCm39) missense probably damaging 1.00
R7346:Bmp5 UTSW 9 75,780,642 (GRCm39) missense probably damaging 1.00
R7522:Bmp5 UTSW 9 75,683,384 (GRCm39) missense probably benign
R7736:Bmp5 UTSW 9 75,801,072 (GRCm39) missense probably damaging 1.00
R8226:Bmp5 UTSW 9 75,683,606 (GRCm39) missense probably damaging 1.00
R8462:Bmp5 UTSW 9 75,746,874 (GRCm39) missense probably benign 0.03
R8955:Bmp5 UTSW 9 75,805,835 (GRCm39) missense probably damaging 1.00
R8968:Bmp5 UTSW 9 75,780,579 (GRCm39) missense probably benign 0.01
R9281:Bmp5 UTSW 9 75,683,856 (GRCm39) missense probably benign 0.35
R9766:Bmp5 UTSW 9 75,800,982 (GRCm39) missense probably damaging 0.99
RF053:Bmp5 UTSW 9 75,683,656 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- AGGAATAACTACTCTTGACGTGTTC -3'
(R):5'- CTGTGAGGCAAACCCAAAATAG -3'

Sequencing Primer
(F):5'- TTTAAAGCAGGAGAAGAAGATGGAC -3'
(R):5'- CCAAAATAGACAGAATTTCCCTCTG -3'
Posted On 2018-08-29