Incidental Mutation 'R6864:Bmp7'
ID 535789
Institutional Source Beutler Lab
Gene Symbol Bmp7
Ensembl Gene ENSMUSG00000008999
Gene Name bone morphogenetic protein 7
Synonyms OP1, osteogenic protein 1
MMRRC Submission 044964-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6864 (G1)
Quality Score 107.008
Status Validated
Chromosome 2
Chromosomal Location 172709805-172782114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172781855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 3 (V3A)
Ref Sequence ENSEMBL: ENSMUSP00000009143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009143]
AlphaFold P23359
Predicted Effect probably benign
Transcript: ENSMUST00000009143
AA Change: V3A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: V3A

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
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Anln A T 9: 22,293,545 (GRCm39) S33T probably benign Het
Anxa6 T C 11: 54,877,011 (GRCm39) T541A probably benign Het
Atxn2 C T 5: 121,917,557 (GRCm39) R334W probably damaging Het
AU040320 T A 4: 126,741,612 (GRCm39) V940D probably damaging Het
Bcl2 A T 1: 106,471,011 (GRCm39) Y232N probably damaging Het
Calr A T 8: 85,571,557 (GRCm39) H145Q probably damaging Het
Camta2 T A 11: 70,562,792 (GRCm39) T976S probably benign Het
Ccnk G A 12: 108,168,473 (GRCm39) probably benign Het
Cntln T C 4: 85,015,029 (GRCm39) S1107P probably damaging Het
Cradd T C 10: 95,011,789 (GRCm39) D117G probably damaging Het
Dcaf7 C T 11: 105,937,647 (GRCm39) T90I probably damaging Het
Defb30 T A 14: 63,273,552 (GRCm39) probably null Het
Dock4 T A 12: 40,795,745 (GRCm39) I854N probably damaging Het
Dym T A 18: 75,189,809 (GRCm39) Y132* probably null Het
Eef1a2 T C 2: 180,791,477 (GRCm39) T341A probably benign Het
Eml2 T C 7: 18,930,206 (GRCm39) V309A probably damaging Het
Flnb C T 14: 7,905,640 (GRCm38) P1130L possibly damaging Het
Hivep3 C A 4: 119,952,085 (GRCm39) Q134K possibly damaging Het
Kbtbd2 T A 6: 56,757,011 (GRCm39) K242* probably null Het
Kel A G 6: 41,680,694 (GRCm39) probably null Het
Lcorl T A 5: 45,904,546 (GRCm39) K177N probably damaging Het
Mbd3l2 A G 9: 18,354,795 (GRCm39) probably benign Het
Mcm3ap A G 10: 76,343,313 (GRCm39) D1735G probably damaging Het
Ms4a1 C A 19: 11,230,542 (GRCm39) probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mylk C A 16: 34,694,520 (GRCm39) P193Q probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or2y16 G T 11: 49,334,767 (GRCm39) A30S probably benign Het
Or2y17 A T 11: 49,231,580 (GRCm39) T74S probably damaging Het
Or4d10b A T 19: 12,036,777 (GRCm39) F113Y probably damaging Het
Or4f52 C T 2: 111,061,542 (GRCm39) V199I probably benign Het
Otogl C T 10: 107,663,667 (GRCm39) S968N probably damaging Het
Oxr1 T G 15: 41,686,783 (GRCm39) V555G probably damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Peg3 T C 7: 6,715,761 (GRCm39) Y103C probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Prkacb T C 3: 146,451,133 (GRCm39) Y204C probably damaging Het
Prkch A G 12: 73,806,391 (GRCm39) E546G probably damaging Het
Prss12 C A 3: 123,241,033 (GRCm39) H76N probably benign Het
Rai14 G T 15: 10,633,254 (GRCm39) S45R possibly damaging Het
Samd9l T A 6: 3,374,750 (GRCm39) D837V probably benign Het
Slc22a6 G T 19: 8,595,805 (GRCm39) C49F probably damaging Het
Slc2a2 T A 3: 28,775,874 (GRCm39) I328N probably damaging Het
Slc35f4 T C 14: 49,556,310 (GRCm39) I148V possibly damaging Het
Stk32b A T 5: 37,606,149 (GRCm39) probably null Het
Tasor T A 14: 27,183,115 (GRCm39) F525I probably damaging Het
Tktl2 T C 8: 66,964,991 (GRCm39) I183T probably damaging Het
Tmem175 A C 5: 108,793,845 (GRCm39) H325P probably damaging Het
Tns3 A G 11: 8,443,196 (GRCm39) V389A probably damaging Het
Trappc9 A T 15: 72,809,011 (GRCm39) probably null Het
Trim28 T A 7: 12,763,385 (GRCm39) F509I possibly damaging Het
Vmn1r210 T A 13: 23,011,713 (GRCm39) Q191L probably benign Het
Vmn2r24 A T 6: 123,756,117 (GRCm39) D63V possibly damaging Het
Zfp536 A G 7: 37,267,940 (GRCm39) L492P probably damaging Het
Zfp831 C A 2: 174,488,533 (GRCm39) N1069K possibly damaging Het
Zfp943 T A 17: 22,211,593 (GRCm39) H226Q probably 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
IGL03211:Bmp7 APN 2 172,714,676 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- AAGATGGACAGGATCTCCCG -3'
(R):5'- TGTAGGTCTGCAAGCTGCTG -3'

Sequencing Primer
(F):5'- ACAGGATCTCCCGCTGCATC -3'
(R):5'- GCTCGCTCTCTGGAGTTGC -3'
Posted On 2018-10-18