Incidental Mutation 'IGL02703:Bmp2'
ID304205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp2
Ensembl Gene ENSMUSG00000027358
Gene Namebone morphogenetic protein 2
SynonymsBmp2a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02703
Quality Score
Status
Chromosome2
Chromosomal Location133552159-133562885 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 133561404 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 292 (S292A)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
Predicted Effect probably benign
Transcript: ENSMUST00000028836
AA Change: S292A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: S292A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175597
Coding Region Coverage
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
AI593442 A C 9: 52,678,118 L53R probably damaging Het
Cd37 T C 7: 45,235,525 D186G probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Kcne2 T C 16: 92,296,950 S122P possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Olfr453 T G 6: 42,744,076 I13S possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Sugct T G 13: 17,452,540 T243P possibly damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably damaging Het
Other mutations in Bmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bmp2 APN 2 133561027 missense probably benign
IGL01146:Bmp2 APN 2 133561300 missense probably benign 0.12
IGL01933:Bmp2 APN 2 133554658 missense possibly damaging 0.90
IGL02008:Bmp2 APN 2 133560966 missense probably damaging 0.99
IGL02047:Bmp2 APN 2 133560976 missense probably damaging 1.00
IGL02065:Bmp2 APN 2 133560924 missense probably benign 0.17
R1136:Bmp2 UTSW 2 133560927 missense probably damaging 1.00
R1184:Bmp2 UTSW 2 133561468 missense probably damaging 1.00
R2032:Bmp2 UTSW 2 133561296 missense probably benign 0.00
R3683:Bmp2 UTSW 2 133554472 missense probably benign 0.03
R4468:Bmp2 UTSW 2 133554454 missense probably benign
R5211:Bmp2 UTSW 2 133554630 missense probably damaging 0.99
R5324:Bmp2 UTSW 2 133561359 nonsense probably null
R5587:Bmp2 UTSW 2 133554646 missense possibly damaging 0.94
R7040:Bmp2 UTSW 2 133561684 missense probably damaging 1.00
R7574:Bmp2 UTSW 2 133560897 missense probably benign
R7965:Bmp2 UTSW 2 133561185 missense probably benign 0.01
R8537:Bmp2 UTSW 2 133561282 missense probably damaging 0.99
R8805:Bmp2 UTSW 2 133561334 missense not run
Posted On2015-04-16