Incidental Mutation 'R1136:Bmp2'
ID94964
Institutional Source Beutler Lab
Gene Symbol Bmp2
Ensembl Gene ENSMUSG00000027358
Gene Namebone morphogenetic protein 2
SynonymsBmp2a
MMRRC Submission 039209-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1136 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location133552159-133562885 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 133560927 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 133 (F133L)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
Predicted Effect probably damaging
Transcript: ENSMUST00000028836
AA Change: F133L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: F133L

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
Meta Mutation Damage Score 0.9637 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 100% (52/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 C T 13: 68,730,317 G401S probably damaging Het
Akap8l C T 17: 32,332,483 R511H probably damaging Het
C1qtnf3 A G 15: 10,978,584 E290G probably damaging Het
Ccdc180 C A 4: 45,914,589 D701E probably benign Het
Chmp7 C T 14: 69,719,450 M336I probably benign Het
Csmd3 A T 15: 47,675,817 I1508N probably damaging Het
Dgkh T C 14: 78,624,889 R80G probably damaging Het
Dock1 T A 7: 134,848,173 V805D possibly damaging Het
Eef2 C CN 10: 81,178,769 probably null Het
Ercc6l2 T A 13: 63,869,120 V679D possibly damaging Het
Esp6 T C 17: 40,565,393 Y111H probably benign Het
Focad T C 4: 88,326,180 F799S unknown Het
Foxred1 C A 9: 35,205,037 M438I probably benign Het
Galnt11 T G 5: 25,258,945 V405G probably damaging Het
Gm4847 A G 1: 166,630,366 Y473H probably damaging Het
Gpbp1l1 C T 4: 116,592,918 T461M probably damaging Het
Hnrnpu A T 1: 178,331,225 probably benign Het
Kmt2d A T 15: 98,857,765 probably benign Het
Matr3 A G 18: 35,572,895 H291R probably damaging Het
Mfsd14b C T 13: 65,095,692 S46N probably benign Het
Mtch1 C T 17: 29,333,770 probably null Het
Muc6 G T 7: 141,638,772 T1996N possibly damaging Het
Mylk T C 16: 35,000,318 I1880T probably damaging Het
N4bp2 T C 5: 65,808,472 L1288P probably damaging Het
Ncf2 A T 1: 152,830,372 H245L probably damaging Het
Nmd3 T A 3: 69,746,716 probably benign Het
Npdc1 G T 2: 25,407,715 A127S probably benign Het
Nudt3 C A 17: 27,623,106 R27L probably benign Het
Nwd1 C T 8: 72,697,769 probably benign Het
Papd4 C T 13: 93,175,697 probably null Het
Pex7 T A 10: 19,888,688 I170F probably benign Het
Phyhipl A G 10: 70,569,072 V57A probably damaging Het
Pkhd1 G A 1: 20,522,829 P1687S possibly damaging Het
Plekhj1 A T 10: 80,797,820 probably null Het
Prss21 T A 17: 23,872,994 L312H probably damaging Het
Samsn1 T C 16: 75,873,520 I232V probably null Het
Sec63 A T 10: 42,806,546 D411V probably damaging Het
Slc44a4 C T 17: 34,928,022 H343Y probably damaging Het
Sucla2 C T 14: 73,560,634 probably benign Het
Tedc2 T A 17: 24,216,317 E366V probably damaging Het
Tedc2 C A 17: 24,216,318 E366* probably null Het
Tmtc3 A G 10: 100,472,043 probably benign Het
Trafd1 C T 5: 121,373,324 R477H possibly damaging Het
Uhrf2 T A 19: 30,056,226 probably benign Het
Vmn2r68 T A 7: 85,222,341 D578V possibly damaging Het
Wdcp G A 12: 4,851,655 V504I possibly damaging Het
Wdr93 T C 7: 79,773,448 Y487H probably damaging Het
Zfp457 T C 13: 67,293,782 H147R 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
IGL02703:Bmp2 APN 2 133561404 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGGACAGAGGGGCAGACATTGTATC -3'
(R):5'- TCGAAGCTCTCCCACTGACTTGTG -3'

Sequencing Primer
(F):5'- GGCAGACATTGTATCTCTAGGC -3'
(R):5'- AACCTGGTGTCCAATAGTCTG -3'
Posted On2014-01-05