Incidental Mutation 'R0139:Bmp3'
ID 22169
Institutional Source Beutler Lab
Gene Symbol Bmp3
Ensembl Gene ENSMUSG00000029335
Gene Name bone morphogenetic protein 3
Synonyms 9530029I04Rik
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 99002274-99031912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99027768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 463 (D463N)
Ref Sequence ENSEMBL: ENSMUSP00000031278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031278] [ENSMUST00000200388]
AlphaFold Q8BHE5
Predicted Effect possibly damaging
Transcript: ENSMUST00000031278
AA Change: D463N

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335
AA Change: D463N

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 probably benign
Transcript: ENSMUST00000200388
SMART Domains Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Efr3a G T 15: 65,717,830 (GRCm39) V337F possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
F13b G A 1: 139,435,941 (GRCm39) S249N probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Gck T A 11: 5,859,139 (GRCm39) K143* probably null Het
Gck C A 11: 5,860,370 (GRCm39) V91L probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Kcnb1 A G 2: 166,947,459 (GRCm39) I463T possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nme8 T C 13: 19,862,018 (GRCm39) I204V probably benign Het
Nup133 A T 8: 124,656,082 (GRCm39) N466K probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N probably damaging 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
R0653:Bmp3 UTSW 5 99,019,970 (GRCm39) missense probably damaging 1.00
R0881:Bmp3 UTSW 5 99,020,461 (GRCm39) missense possibly damaging 0.95
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'- TCATTGTCTGTGACGAGACCCGAG -3'
(R):5'- AGCCTAAGGCAAGACACCTAGTGAG -3'

Sequencing Primer
(F):5'- GAGAGCGGCTTCACCTAAC -3'
(R):5'- AACTCGTGATTGGATGGAGC -3'
Posted On 2013-04-16