Incidental Mutation 'R8537:Bmp2'
ID 659274
Institutional Source Beutler Lab
Gene Symbol Bmp2
Ensembl Gene ENSMUSG00000027358
Gene Name bone morphogenetic protein 2
Synonyms Bmp2a
MMRRC Submission 067891-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8537 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 133394079-133404805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133403202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 251 (D251V)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
AlphaFold P21274
Predicted Effect probably damaging
Transcript: ENSMUST00000028836
AA Change: D251V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: D251V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,684,491 (GRCm39) D1790V probably damaging Het
Aopep A T 13: 63,338,364 (GRCm39) E579V probably damaging Het
Avl9 T A 6: 56,705,644 (GRCm39) Y175* probably null Het
Camsap2 T A 1: 136,204,943 (GRCm39) K1191N probably damaging Het
Ccdc102a A C 8: 95,632,684 (GRCm39) F431C probably benign Het
Ccdc186 T C 19: 56,798,677 (GRCm39) I270M probably damaging Het
Copb2 A G 9: 98,469,672 (GRCm39) Q851R probably null Het
Cyp11b2 C T 15: 74,728,016 (GRCm39) R22K probably benign Het
Ddx50 A G 10: 62,478,628 (GRCm39) F186S probably damaging Het
Dhx38 T C 8: 110,280,012 (GRCm39) Y926C probably damaging Het
Dmrt2 T C 19: 25,651,300 (GRCm39) M162T possibly damaging Het
Dnah10 G T 5: 124,893,164 (GRCm39) G3309V probably damaging Het
Dnajb2 T C 1: 75,216,242 (GRCm39) F107S probably damaging Het
Dock8 T A 19: 25,107,870 (GRCm39) S867T probably benign Het
Eif2ak1 C A 5: 143,835,887 (GRCm39) T526K probably damaging Het
Gnas T C 2: 174,140,394 (GRCm39) S188P possibly damaging Het
Gpam T C 19: 55,084,671 (GRCm39) D36G probably benign Het
Gucy2e C A 11: 69,127,179 (GRCm39) R98L probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hnrnpu T C 1: 178,161,199 (GRCm39) probably benign Het
Icos A G 1: 61,033,101 (GRCm39) D100G probably damaging Het
Ifi203 A T 1: 173,756,472 (GRCm39) probably benign Het
Ift46 T A 9: 44,695,280 (GRCm39) L92Q probably damaging Het
Kcnip2 C T 19: 45,804,169 (GRCm39) probably null Het
Lgr5 T C 10: 115,288,307 (GRCm39) Y779C probably damaging Het
Ltk G T 2: 119,588,588 (GRCm39) P287Q probably benign Het
Mapk8ip3 A T 17: 25,120,652 (GRCm39) C852* probably null Het
Mmp27 A G 9: 7,579,776 (GRCm39) M443V probably benign Het
Muc6 T C 7: 141,234,184 (GRCm39) D769G probably benign Het
Myo7b T C 18: 32,110,142 (GRCm39) I1107V probably benign Het
Nebl T A 2: 17,355,520 (GRCm39) H211L probably benign Het
Oaz3 T A 3: 94,343,742 (GRCm39) K40N probably damaging Het
Or5as1 T A 2: 86,980,382 (GRCm39) T208S probably benign Het
Or7e169 T A 9: 19,757,848 (GRCm39) E22D probably damaging Het
Osbpl10 G T 9: 115,058,977 (GRCm39) A718S probably benign Het
Ppp3ca T A 3: 136,503,619 (GRCm39) I64K possibly damaging Het
Prlr T C 15: 10,314,266 (GRCm39) probably benign Het
Rab3ip A G 10: 116,746,059 (GRCm39) I424T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Sec62 G T 3: 30,872,961 (GRCm39) R348L unknown Het
Sema5b C T 16: 35,471,979 (GRCm39) A479V possibly damaging Het
Shank3 T C 15: 89,416,418 (GRCm39) I222T probably damaging Het
Sp1 C T 15: 102,316,964 (GRCm39) T154I possibly damaging Het
Spata31e1 A G 13: 49,940,108 (GRCm39) V534A possibly damaging Het
Srek1 A G 13: 103,888,957 (GRCm39) probably benign Het
Tmem129 A G 5: 33,812,920 (GRCm39) S143P possibly damaging Het
Tmem202 A T 9: 59,426,929 (GRCm39) C194S probably benign Het
Tmprss15 A T 16: 78,884,403 (GRCm39) I93K probably damaging Het
Ttn A G 2: 76,606,653 (GRCm39) Y16340H probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign 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
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
R8805:Bmp2 UTSW 2 133,403,254 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTAGTGAATCAGAACACAAGTC -3'
(R):5'- TCCCCATGGCAGTAAAAGGC -3'

Sequencing Primer
(F):5'- TCAGTGGGAGAGCTTCGAC -3'
(R):5'- AGGTGCCACGATCCAGTCATTC -3'
Posted On 2021-01-18