Incidental Mutation 'IGL03211:Bmp7'
ID 413307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp7
Ensembl Gene ENSMUSG00000008999
Gene Name bone morphogenetic protein 7
Synonyms OP1, osteogenic protein 1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03211
Quality Score
Status
Chromosome 2
Chromosomal Location 172709805-172782114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 172714676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 378 (V378I)
Ref Sequence ENSEMBL: ENSMUSP00000009143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009143]
AlphaFold P23359
Predicted Effect possibly damaging
Transcript: ENSMUST00000009143
AA Change: V378I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: V378I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:TGFb_propeptide 34 279 4.3e-97 PFAM
TGFB 329 430 2.14e-68 SMART
Coding Region Coverage
Validation Efficiency
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. 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
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209b G T 8: 3,968,830 (GRCm39) probably benign Het
Cilp A T 9: 65,187,457 (GRCm39) Q1184L probably benign Het
Cysltr2 A T 14: 73,267,155 (GRCm39) M185K possibly damaging Het
Dcaf6 A G 1: 165,250,502 (GRCm39) F121L possibly damaging Het
Dnajc8 T A 4: 132,272,048 (GRCm39) Y95N possibly damaging Het
Ebf3 A G 7: 136,833,033 (GRCm39) V214A probably benign Het
Elavl3 A G 9: 21,929,974 (GRCm39) V310A probably damaging Het
Emc2 C T 15: 43,371,068 (GRCm39) R131* probably null Het
Hcn4 G A 9: 58,765,434 (GRCm39) V639M unknown Het
Kif21a T G 15: 90,882,166 (GRCm39) D46A possibly damaging Het
Kitl T C 10: 99,916,721 (GRCm39) S175P probably benign Het
Klhl32 C T 4: 24,792,616 (GRCm39) probably null Het
Plcg1 C T 2: 160,601,611 (GRCm39) T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 (GRCm39) H666R probably damaging Het
Rap1gap G A 4: 137,443,157 (GRCm39) probably null Het
Rdh7 T C 10: 127,723,492 (GRCm39) N121S probably benign Het
Ric8b T A 10: 84,837,657 (GRCm39) I488N probably damaging Het
Slc38a2 A T 15: 96,596,153 (GRCm39) probably null Het
Slc9a9 G A 9: 95,020,043 (GRCm39) probably benign Het
Tk2 T A 8: 104,970,073 (GRCm39) I64F probably damaging Het
Virma G A 4: 11,548,770 (GRCm39) W1776* probably null Het
Vrk1 C T 12: 106,002,847 (GRCm39) A15V probably benign Het
Wdfy3 T C 5: 101,992,778 (GRCm39) probably benign Het
Wfdc10 T C 2: 164,499,172 (GRCm39) V94A probably benign Het
Zfp780b A T 7: 27,662,600 (GRCm39) C652S possibly damaging Het
Other mutations in Bmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Bmp7 APN 2 172,717,055 (GRCm39) missense probably damaging 1.00
IGL01143:Bmp7 APN 2 172,721,275 (GRCm39) missense probably benign
IGL01636:Bmp7 APN 2 172,717,001 (GRCm39) splice site probably benign
IGL02331:Bmp7 APN 2 172,714,724 (GRCm39) missense probably damaging 1.00
R1957:Bmp7 UTSW 2 172,781,714 (GRCm39) missense probably damaging 0.97
R2044:Bmp7 UTSW 2 172,781,708 (GRCm39) missense possibly damaging 0.46
R3772:Bmp7 UTSW 2 172,712,015 (GRCm39) missense probably damaging 1.00
R4392:Bmp7 UTSW 2 172,758,335 (GRCm39) missense probably benign 0.25
R6716:Bmp7 UTSW 2 172,714,682 (GRCm39) missense probably damaging 1.00
R6774:Bmp7 UTSW 2 172,714,751 (GRCm39) missense probably damaging 1.00
R6864:Bmp7 UTSW 2 172,781,855 (GRCm39) missense probably benign 0.00
R6904:Bmp7 UTSW 2 172,714,706 (GRCm39) missense probably damaging 0.97
R7295:Bmp7 UTSW 2 172,781,690 (GRCm39) missense probably damaging 1.00
R7390:Bmp7 UTSW 2 172,711,998 (GRCm39) missense probably damaging 1.00
R7392:Bmp7 UTSW 2 172,711,998 (GRCm39) missense probably damaging 1.00
R7560:Bmp7 UTSW 2 172,781,757 (GRCm39) missense possibly damaging 0.85
R7871:Bmp7 UTSW 2 172,781,784 (GRCm39) missense probably benign 0.00
R7938:Bmp7 UTSW 2 172,721,283 (GRCm39) missense probably benign 0.44
R8790:Bmp7 UTSW 2 172,712,060 (GRCm39) missense probably benign 0.08
R8927:Bmp7 UTSW 2 172,721,211 (GRCm39) missense probably damaging 0.99
R8928:Bmp7 UTSW 2 172,721,211 (GRCm39) missense probably damaging 0.99
R9458:Bmp7 UTSW 2 172,721,268 (GRCm39) missense possibly damaging 0.83
R9470:Bmp7 UTSW 2 172,711,960 (GRCm39) missense probably damaging 1.00
X0024:Bmp7 UTSW 2 172,781,594 (GRCm39) missense probably benign 0.25
Posted On 2016-08-02