Incidental Mutation 'R7965:Bmp2'
ID 650306
Institutional Source Beutler Lab
Gene Symbol Bmp2
Ensembl Gene ENSMUSG00000027358
Gene Name bone morphogenetic protein 2
Synonyms Bmp2a
MMRRC Submission 046008-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7965 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 133394079-133404805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133403105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 219 (H219Y)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
AlphaFold P21274
Predicted Effect probably benign
Transcript: ENSMUST00000028836
AA Change: H219Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: H219Y

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: 98.9%
Validation Efficiency 100% (45/45)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,791,465 (GRCm39) T154A Het
Arhgap21 A G 2: 20,854,007 (GRCm39) I1795T probably damaging Het
Arhgef4 T C 1: 34,850,762 (GRCm39) V436A probably benign Het
Bche A T 3: 73,609,149 (GRCm39) N92K probably damaging Het
Cables1 T G 18: 11,973,269 (GRCm39) V136G probably benign Het
Cacna1d G A 14: 29,769,270 (GRCm39) R1887* probably null Het
Chrd A G 16: 20,557,903 (GRCm39) E774G probably benign Het
Chrna2 A G 14: 66,388,525 (GRCm39) *513W probably null Het
Cracr2b T C 7: 141,044,161 (GRCm39) F131S probably damaging Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyfip1 T A 7: 55,546,523 (GRCm39) I545N possibly damaging Het
Enpp3 T A 10: 24,654,717 (GRCm39) T654S possibly damaging Het
Glce A G 9: 61,968,228 (GRCm39) S308P probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Hmmr A C 11: 40,606,256 (GRCm39) probably null Het
Hoxb9 A G 11: 96,165,464 (GRCm39) N178D probably benign Het
Igkv10-94 A T 6: 68,681,595 (GRCm39) F82I probably damaging Het
Igkv1-133 A T 6: 67,702,578 (GRCm39) K99* probably null Het
Il4i1 A G 7: 44,489,819 (GRCm39) Q528R probably benign Het
Inhba G T 13: 16,201,572 (GRCm39) G378V possibly damaging Het
Katna1 T C 10: 7,614,623 (GRCm39) S44P probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Mgat4d T C 8: 84,084,722 (GRCm39) V155A possibly damaging Het
Morc2b C T 17: 33,354,746 (GRCm39) E1009K possibly damaging Het
Myo9a T A 9: 59,695,721 (GRCm39) L341H probably damaging Het
Nell2 C T 15: 95,129,216 (GRCm39) D716N probably damaging Het
Or1n2 A G 2: 36,796,953 (GRCm39) probably benign Het
Or5t16 A G 2: 86,818,707 (GRCm39) V271A probably benign Het
Or8g36 C T 9: 39,422,810 (GRCm39) V69I probably benign Het
Or8k30 A G 2: 86,338,815 (GRCm39) H4R probably benign Het
Ppp1r37 T C 7: 19,265,868 (GRCm39) T633A probably damaging Het
Prdm10 A G 9: 31,258,302 (GRCm39) K576E probably damaging Het
Prl2c5 G T 13: 13,360,469 (GRCm39) M45I probably benign Het
Rigi C A 4: 40,223,824 (GRCm39) G397* probably null Het
Rnf44 A G 13: 54,830,667 (GRCm39) S247P probably benign Het
Scn3a A G 2: 65,336,555 (GRCm39) F684L probably damaging Het
Skint2 T A 4: 112,502,648 (GRCm39) M286K probably benign Het
Slc39a9 G A 12: 80,713,450 (GRCm39) G116D probably damaging Het
Smchd1 G A 17: 71,762,621 (GRCm39) T206I possibly damaging Het
Tmem161a C T 8: 70,630,154 (GRCm39) probably benign Het
Trpm6 T A 19: 18,853,474 (GRCm39) H1831Q probably damaging Het
Trpm7 A T 2: 126,667,614 (GRCm39) H792Q probably damaging Het
Ttc6 A G 12: 57,720,542 (GRCm39) Q936R possibly damaging Het
Usp53 A T 3: 122,756,531 (GRCm39) probably null Het
Vmn1r236 T A 17: 21,507,696 (GRCm39) C271* probably null Het
Vmn2r70 T A 7: 85,211,071 (GRCm39) M547L probably damaging Het
Vwa5b1 G A 4: 138,332,800 (GRCm39) T254M probably damaging Het
Zc3h4 T C 7: 16,163,770 (GRCm39) F655S unknown Het
Zfp605 G A 5: 110,275,316 (GRCm39) G145S 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
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'- GAGTTTCTCACATCTGCAGAACTC -3'
(R):5'- TGGAGCGGATGTCCTTTTCC -3'

Sequencing Primer
(F):5'- TGCAGAACTCCAGATCTTCCGG -3'
(R):5'- GAGCGGATGTCCTTTTCCATCATG -3'
Posted On 2020-09-15