Incidental Mutation 'R5324:Bmp2'
ID 405005
Institutional Source Beutler Lab
Gene Symbol Bmp2
Ensembl Gene ENSMUSG00000027358
Gene Name bone morphogenetic protein 2
Synonyms Bmp2a
MMRRC Submission 042907-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5324 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 133394079-133404805 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 133403279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 277 (R277*)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
AlphaFold P21274
Predicted Effect probably null
Transcript: ENSMUST00000028836
AA Change: R277*
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: R277*

signal peptide 1 23 N/A INTRINSIC
Pfam:TGFb_propeptide 35 265 7.9e-55 PFAM
TGFB 294 394 9.33e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175597
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ap5b1 G A 19: 5,619,863 (GRCm39) E428K possibly damaging Het
Cbl A T 9: 44,065,551 (GRCm39) S659T probably damaging Het
Col14a1 A T 15: 55,201,841 (GRCm39) H43L unknown Het
Corin A G 5: 72,592,600 (GRCm39) C133R probably damaging Het
Cyp1a1 A G 9: 57,609,652 (GRCm39) N401S probably benign Het
Dip2a T C 10: 76,132,227 (GRCm39) D508G probably damaging Het
Dnah2 T A 11: 69,348,819 (GRCm39) H2556L probably benign Het
Dock8 T C 19: 25,140,458 (GRCm39) F1333L probably benign Het
Epg5 A G 18: 78,005,660 (GRCm39) K717E possibly damaging Het
Fmn2 G A 1: 174,436,446 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hbp1 T C 12: 31,978,617 (GRCm39) N510S probably damaging Het
Lrguk T C 6: 34,050,732 (GRCm39) S397P possibly damaging Het
Mmrn1 A T 6: 60,953,570 (GRCm39) D617V probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
N6amt1 A G 16: 87,151,241 (GRCm39) D34G probably damaging Het
Nktr A T 9: 121,556,412 (GRCm39) D30V probably damaging Het
Or52ab7 T A 7: 102,978,257 (GRCm39) M188K probably damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Pabpc1 A G 15: 36,600,869 (GRCm39) F314L probably damaging Het
Papln G A 12: 83,821,345 (GRCm39) V226M probably damaging Het
Parp12 A T 6: 39,079,546 (GRCm39) D321E probably damaging Het
Plch2 T A 4: 155,068,991 (GRCm39) T1107S probably benign Het
Psma2 T C 13: 14,799,802 (GRCm39) L182P probably damaging Het
Rcl1 A G 19: 29,105,401 (GRCm39) Y196C probably benign Het
Rdh16 G A 10: 127,637,136 (GRCm39) V24M probably damaging Het
Rpe65 A G 3: 159,310,041 (GRCm39) T105A possibly damaging Het
Serpini1 T C 3: 75,547,601 (GRCm39) I371T probably damaging Het
Tet2 T C 3: 133,191,674 (GRCm39) N920S probably benign Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tmprss11f T A 5: 86,704,837 (GRCm39) D27V possibly damaging Het
Zfp747l1 G T 7: 126,984,079 (GRCm39) probably benign Het
Zxdc T A 6: 90,350,782 (GRCm39) I411N 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
R3683:Bmp2 UTSW 2 133,396,392 (GRCm39) missense probably benign 0.03
R4468:Bmp2 UTSW 2 133,396,374 (GRCm39) missense probably benign
R5211:Bmp2 UTSW 2 133,396,550 (GRCm39) missense probably damaging 0.99
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

Sequencing Primer
Posted On 2016-07-22