Incidental Mutation 'IGL01933:Bmp2'
ID180486
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 #IGL01933
Quality Score
Status
Chromosome2
Chromosomal Location133552159-133562885 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 133554658 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 78 (M78K)
Ref Sequence ENSEMBL: ENSMUSP00000028836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028836]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028836
AA Change: M78K

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: M78K

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
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,257,367 V575F possibly damaging Het
Abca2 T A 2: 25,444,111 V1800E probably damaging Het
Acacb C T 5: 114,184,190 probably benign Het
Adam34 C A 8: 43,651,532 G359W probably damaging Het
Ankrd42 G A 7: 92,605,285 T372I probably benign Het
Apc2 A G 10: 80,311,740 D847G probably damaging Het
Arap3 T A 18: 37,978,453 T1137S possibly damaging Het
Atp10b A C 11: 43,194,630 T279P probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc61 T G 7: 18,892,558 M369L probably benign Het
Cep78 A T 19: 15,955,940 I758N probably benign Het
Ces2a A G 8: 104,741,415 *526W probably null Het
Cgnl1 C T 9: 71,645,483 probably benign Het
Clec14a A G 12: 58,268,318 Y173H probably damaging Het
Cntn4 G A 6: 106,694,384 S976N probably damaging Het
Col6a4 G A 9: 106,060,114 T1401I probably benign Het
D5Ertd579e T C 5: 36,615,756 T432A probably benign Het
Dixdc1 G A 9: 50,703,258 R163* probably null Het
Dmxl1 C A 18: 49,877,785 T1003K probably benign Het
Dnah1 G A 14: 31,310,915 R388W probably benign Het
Eci3 C T 13: 34,948,789 A202T probably damaging Het
Egr2 T C 10: 67,540,194 S220P probably damaging Het
Fntb C T 12: 76,920,106 P405S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm26602 C A 10: 79,911,121 R236L probably benign Het
Hao2 T C 3: 98,880,332 probably benign Het
Irgm2 A T 11: 58,219,957 N170I possibly damaging Het
Klhl20 G A 1: 161,106,787 R221W probably damaging Het
Kmt2b A G 7: 30,569,514 probably null Het
Lrrc46 C T 11: 97,035,528 E181K probably benign Het
Lztr1 T A 16: 17,520,591 V226E probably damaging Het
Myh9 G T 15: 77,781,218 D684E probably benign Het
Myo7a T C 7: 98,083,142 T713A probably damaging Het
Nrap G T 19: 56,388,818 N62K probably damaging Het
Olfr1434 A T 19: 12,283,705 Y219F probably damaging Het
Olfr642 T C 7: 104,049,814 Y180C probably damaging Het
Osbp2 T C 11: 3,712,016 D708G probably damaging Het
Pcnx2 G A 8: 125,761,654 P1717L probably damaging Het
Pex1 A G 5: 3,633,789 D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 H771R probably benign Het
R3hcc1l G A 19: 42,562,950 A129T probably damaging Het
Rbm15 G A 3: 107,331,103 R660W probably damaging Het
Recql C T 6: 142,364,638 V489M probably benign Het
Sash1 A T 10: 8,751,133 S162R probably damaging Het
Sec11a T C 7: 80,935,062 I42M probably benign Het
Slc25a23 G A 17: 57,052,813 Q61* probably null Het
Son A T 16: 91,658,015 M1217L probably benign Het
Srgap2 T C 1: 131,411,855 N123S probably damaging Het
Ssh1 T C 5: 113,950,380 probably benign Het
St13 T C 15: 81,389,698 probably null Het
St3gal3 A T 4: 118,031,875 D57E probably damaging Het
Stk4 C T 2: 164,098,585 probably benign Het
Tln1 T A 4: 43,539,508 T1605S probably benign Het
Tln1 T C 4: 43,555,894 T107A possibly damaging Het
Tmem135 G T 7: 89,143,857 probably benign Het
Tmtc3 A G 10: 100,447,605 M696T probably benign Het
Trbv29 T A 6: 41,271,827 L97Q probably damaging Het
Trpc4ap A T 2: 155,639,535 F534I possibly damaging Het
Trpm8 T C 1: 88,326,405 Y117H probably damaging Het
Zfp608 T C 18: 54,987,799 T239A probably benign Het
Zmym5 T G 14: 56,804,160 H162P 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
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
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
Posted On2014-05-07