Incidental Mutation 'R0881:Bmp3'
ID 80528
Institutional Source Beutler Lab
Gene Symbol Bmp3
Ensembl Gene ENSMUSG00000029335
Gene Name bone morphogenetic protein 3
Synonyms 9530029I04Rik
MMRRC Submission 039048-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0881 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99002274-99031912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99020461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 295 (N295D)
Ref Sequence ENSEMBL: ENSMUSP00000142907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031278] [ENSMUST00000197143] [ENSMUST00000200388]
AlphaFold Q8BHE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000031278
AA Change: N295D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335
AA Change: N295D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:TGFb_propeptide 34 231 7.9e-9 PFAM
TGFB 366 468 6.17e-60 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197143
AA Change: N295D

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142662
Gene: ENSMUSG00000029335
AA Change: N295D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:TGFb_propeptide 40 227 1.2e-9 PFAM
TGFB 366 433 5.1e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000200388
AA Change: N295D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335
AA Change: N295D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:TGFb_propeptide 40 227 1.4e-9 PFAM
TGFB 366 442 3.9e-11 SMART
Meta Mutation Damage Score 0.1066 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 93.0%
Validation Efficiency 96% (51/53)
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. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in increased bone density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abcc9 T A 6: 142,592,029 (GRCm39) I732F probably damaging Het
Adam10 T C 9: 70,653,519 (GRCm39) S248P probably damaging Het
Adam18 A T 8: 25,162,159 (GRCm39) probably benign Het
Angel2 G A 1: 190,669,661 (GRCm39) E114K probably damaging Het
Arhgap29 A G 3: 121,808,328 (GRCm39) T1169A probably damaging Het
Atp13a2 T A 4: 140,731,242 (GRCm39) M759K probably damaging Het
Atxn2l A G 7: 126,095,768 (GRCm39) S450P probably damaging Het
B3glct T A 5: 149,663,034 (GRCm39) V264E probably damaging Het
Bbx A G 16: 50,040,963 (GRCm39) probably benign Het
C9 G A 15: 6,488,349 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdan1 A T 2: 120,551,466 (GRCm39) V1039E probably damaging Het
Dennd4a T C 9: 64,758,665 (GRCm39) probably null Het
Ext1 A G 15: 53,207,879 (GRCm39) L294P probably benign Het
Fsip2 C A 2: 82,816,617 (GRCm39) H4117N possibly damaging Het
Itga8 C T 2: 12,267,003 (GRCm39) probably null Het
Itln1 G T 1: 171,360,949 (GRCm39) H48N probably benign Het
Kcna5 T A 6: 126,511,957 (GRCm39) H57L probably benign Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Klhl25 A G 7: 75,516,027 (GRCm39) Y6C probably damaging Het
Lars1 C T 18: 42,347,851 (GRCm39) V991M probably benign Het
Med20 T C 17: 47,922,605 (GRCm39) M1T probably null Het
Mslnl A T 17: 25,961,939 (GRCm39) H138L possibly damaging Het
Mycbp2 T C 14: 103,457,449 (GRCm39) I1583V probably benign Het
Nipbl A C 15: 8,337,096 (GRCm39) V2093G probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Opalin T C 19: 41,052,420 (GRCm39) probably null Het
Or1j12 T G 2: 36,343,452 (GRCm39) L285R probably damaging Het
Or51d1 T A 7: 102,348,291 (GRCm39) V282D possibly damaging Het
Or8g26 A G 9: 39,095,984 (GRCm39) K170R probably benign Het
Pgm2 A T 5: 64,250,351 (GRCm39) T9S unknown Het
Piwil2 A C 14: 70,646,376 (GRCm39) S387A probably benign Het
Polr1c T C 17: 46,555,539 (GRCm39) T240A possibly damaging Het
Polr3c A G 3: 96,631,163 (GRCm39) M118T probably damaging Het
Pth1r C T 9: 110,560,641 (GRCm39) C42Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,821,151 (GRCm39) M1492L probably benign Het
Rrbp1 T A 2: 143,795,173 (GRCm39) Y1277F probably benign Het
Scgb3a2 T G 18: 43,897,549 (GRCm39) probably benign Het
Skint1 G A 4: 111,886,054 (GRCm39) S327N probably benign Het
Steap4 A T 5: 8,030,388 (GRCm39) S415C probably benign Het
Tex48 A G 4: 63,530,228 (GRCm39) probably benign Het
Tox2 T A 2: 163,163,365 (GRCm39) S502T probably benign Het
Usp47 T A 7: 111,690,643 (GRCm39) I762K possibly damaging Het
Vmn2r53 T C 7: 12,334,859 (GRCm39) H267R probably benign Het
Wnt2b A G 3: 104,860,513 (GRCm39) probably benign Het
Xirp1 T C 9: 119,847,483 (GRCm39) N28D possibly damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Bmp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Bmp3 APN 5 99,020,238 (GRCm39) missense possibly damaging 0.47
IGL02396:Bmp3 APN 5 99,020,578 (GRCm39) missense possibly damaging 0.47
IGL03058:Bmp3 APN 5 99,019,953 (GRCm39) missense probably damaging 1.00
IGL03189:Bmp3 APN 5 99,020,579 (GRCm39) missense probably benign 0.23
IGL03400:Bmp3 APN 5 99,019,957 (GRCm39) missense probably damaging 1.00
PIT4377001:Bmp3 UTSW 5 99,027,608 (GRCm39) missense unknown
R0139:Bmp3 UTSW 5 99,027,768 (GRCm39) missense possibly damaging 0.72
R0653:Bmp3 UTSW 5 99,019,970 (GRCm39) missense probably damaging 1.00
R1261:Bmp3 UTSW 5 99,027,785 (GRCm39) missense probably damaging 1.00
R1413:Bmp3 UTSW 5 99,020,264 (GRCm39) missense probably damaging 0.98
R1481:Bmp3 UTSW 5 99,020,329 (GRCm39) missense probably damaging 1.00
R3009:Bmp3 UTSW 5 99,027,696 (GRCm39) missense probably damaging 1.00
R4507:Bmp3 UTSW 5 99,027,633 (GRCm39) missense probably damaging 1.00
R4750:Bmp3 UTSW 5 99,020,417 (GRCm39) missense possibly damaging 0.89
R4833:Bmp3 UTSW 5 99,003,066 (GRCm39) missense probably damaging 1.00
R4921:Bmp3 UTSW 5 99,019,920 (GRCm39) missense probably damaging 1.00
R5022:Bmp3 UTSW 5 99,020,683 (GRCm39) missense probably damaging 1.00
R6039:Bmp3 UTSW 5 99,020,209 (GRCm39) missense probably benign 0.00
R6039:Bmp3 UTSW 5 99,020,209 (GRCm39) missense probably benign 0.00
R7179:Bmp3 UTSW 5 99,020,622 (GRCm39) missense probably damaging 1.00
R7448:Bmp3 UTSW 5 99,020,077 (GRCm39) missense probably damaging 0.96
R7880:Bmp3 UTSW 5 99,020,434 (GRCm39) missense probably damaging 1.00
R8171:Bmp3 UTSW 5 99,020,528 (GRCm39) missense probably damaging 1.00
R8353:Bmp3 UTSW 5 99,003,282 (GRCm39) critical splice donor site probably null
R8378:Bmp3 UTSW 5 99,003,248 (GRCm39) missense probably damaging 1.00
R8453:Bmp3 UTSW 5 99,003,282 (GRCm39) critical splice donor site probably null
R9191:Bmp3 UTSW 5 99,019,946 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGATGCTGCCATTTCTGAGCC -3'
(R):5'- GAGAGATAATCCATTCGCTCCAGCC -3'

Sequencing Primer
(F):5'- TGCCATTTCTGAGCCAGAAAG -3'
(R):5'- ATTCGCTCCAGCCGATATCAG -3'
Posted On 2013-11-07