Incidental Mutation 'R3683:Bmp2'
ID 269412
Institutional Source Beutler Lab
Gene Symbol Bmp2
Ensembl Gene ENSMUSG00000027358
Gene Name bone morphogenetic protein 2
Synonyms Bmp2a
MMRRC Submission 040681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3683 (G1)
Quality Score 151
Status Not validated
Chromosome 2
Chromosomal Location 133394079-133404805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133396392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 16 (V16D)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
AlphaFold P21274
Predicted Effect probably benign
Transcript: ENSMUST00000028836
AA Change: V16D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: V16D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:TGFb_propeptide 35 265 7.9e-55 PFAM
TGFB 294 394 9.33e-69 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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, which plays a role in bone and cartilage development. While a homozygous knockout mouse for this gene exhibits embryonic lethality, conditional knockout mice have defects in bone, cartilage and heart development. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,463,841 (GRCm39) D622G possibly damaging Het
Acad11 T C 9: 103,992,543 (GRCm39) I495T probably damaging Het
Acat1 C T 9: 53,498,765 (GRCm39) A307T probably damaging Het
Ahdc1 T C 4: 132,793,013 (GRCm39) L1418P possibly damaging Het
Cables2 G A 2: 179,906,263 (GRCm39) R121* probably null Het
Calb2 A G 8: 110,883,620 (GRCm39) Y35H probably benign Het
Cdon A G 9: 35,400,328 (GRCm39) E1014G possibly damaging Het
Clcn7 T C 17: 25,369,567 (GRCm39) L301P possibly damaging Het
Corin T C 5: 72,488,198 (GRCm39) D610G probably damaging Het
Csrnp2 A T 15: 100,379,879 (GRCm39) S471T probably benign Het
Dnah7a C A 1: 53,483,675 (GRCm39) M3367I probably benign Het
Elp4 A T 2: 105,533,106 (GRCm39) M413K possibly damaging Het
Fat1 A G 8: 45,470,975 (GRCm39) D1593G probably benign Het
Fbxw24 G A 9: 109,437,110 (GRCm39) P259L possibly damaging Het
Ggta1 T A 2: 35,298,000 (GRCm39) T162S probably benign Het
Gldn G A 9: 54,245,624 (GRCm39) E392K possibly damaging Het
Klra9 T C 6: 130,168,260 (GRCm39) N2S probably benign Het
Lama1 A G 17: 68,075,328 (GRCm39) D1015G probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Nrxn1 T C 17: 90,930,880 (GRCm39) D779G probably damaging Het
Or2d3c G A 7: 106,526,301 (GRCm39) R122* probably null Het
Or4a73 C A 2: 89,421,099 (GRCm39) R120L probably damaging Het
Or4c118 A T 2: 88,975,364 (GRCm39) M1K probably null Het
Or5d37 T A 2: 87,923,603 (GRCm39) I226F probably damaging Het
Osmr A C 15: 6,866,534 (GRCm39) V380G possibly damaging Het
Phf21b A G 15: 84,682,891 (GRCm39) I222T probably damaging Het
Ptprq G T 10: 107,544,489 (GRCm39) T347K probably benign Het
Sema6d G T 2: 124,496,146 (GRCm39) L63F possibly damaging Het
Serpinb9b C T 13: 33,213,581 (GRCm39) A46V probably damaging Het
Sf3b3 A G 8: 111,540,253 (GRCm39) probably null Het
Smpd1 T A 7: 105,204,609 (GRCm39) C163S probably damaging Het
Stat4 C T 1: 52,052,981 (GRCm39) T54I possibly damaging Het
Tacc2 A G 7: 130,226,800 (GRCm39) S1162G probably benign Het
Tbc1d20 C T 2: 152,153,737 (GRCm39) T354I probably benign Het
Tbc1d31 T C 15: 57,815,210 (GRCm39) probably null Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Unc79 T A 12: 103,041,062 (GRCm39) N698K probably benign Het
Utrn A G 10: 12,542,579 (GRCm39) M1802T probably benign Het
Vmn1r8 A C 6: 57,013,260 (GRCm39) T104P probably damaging Het
Vmn2r13 C A 5: 109,304,721 (GRCm39) R570I probably damaging Het
Zfand6 G A 7: 84,283,570 (GRCm39) P11S probably damaging Het
Zfp1005 A G 2: 150,109,976 (GRCm39) K222R probably benign Het
Zmpste24 A G 4: 120,918,288 (GRCm39) F445L probably damaging Het
Other mutations in Bmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bmp2 APN 2 133,402,947 (GRCm39) missense probably benign
IGL01146:Bmp2 APN 2 133,403,220 (GRCm39) missense probably benign 0.12
IGL01933:Bmp2 APN 2 133,396,578 (GRCm39) missense possibly damaging 0.90
IGL02008:Bmp2 APN 2 133,402,886 (GRCm39) missense probably damaging 0.99
IGL02047:Bmp2 APN 2 133,402,896 (GRCm39) missense probably damaging 1.00
IGL02065:Bmp2 APN 2 133,402,844 (GRCm39) missense probably benign 0.17
IGL02703:Bmp2 APN 2 133,403,324 (GRCm39) missense probably benign
R1136:Bmp2 UTSW 2 133,402,847 (GRCm39) missense probably damaging 1.00
R1184:Bmp2 UTSW 2 133,403,388 (GRCm39) missense probably damaging 1.00
R2032:Bmp2 UTSW 2 133,403,216 (GRCm39) missense probably benign 0.00
R4468:Bmp2 UTSW 2 133,396,374 (GRCm39) missense probably benign
R5211:Bmp2 UTSW 2 133,396,550 (GRCm39) missense probably damaging 0.99
R5324:Bmp2 UTSW 2 133,403,279 (GRCm39) nonsense probably null
R5587:Bmp2 UTSW 2 133,396,566 (GRCm39) missense possibly damaging 0.94
R7040:Bmp2 UTSW 2 133,403,604 (GRCm39) missense probably damaging 1.00
R7574:Bmp2 UTSW 2 133,402,817 (GRCm39) missense probably benign
R7965:Bmp2 UTSW 2 133,403,105 (GRCm39) missense probably benign 0.01
R8537:Bmp2 UTSW 2 133,403,202 (GRCm39) missense probably damaging 0.99
R8805:Bmp2 UTSW 2 133,403,254 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGATCATCCAGGCTGTAGC -3'
(R):5'- CGGTACAGATCTAGCATATAGGG -3'

Sequencing Primer
(F):5'- CTGTAGCCCGCGAATATGACATG -3'
(R):5'- ATTCGCTGAGGACGTCTT -3'
Posted On 2015-02-19