Incidental Mutation 'R1052:Bmp4'
Institutional Source Beutler Lab
Gene Symbol Bmp4
Ensembl Gene ENSMUSG00000021835
Gene Namebone morphogenetic protein 4
SynonymsBmp-4, Bmp2b-1, Bmp2b1, Bmp2b
MMRRC Submission 039142-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1052 (G1)
Quality Score225
Status Not validated
Chromosomal Location46383520-46390669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46383903 bp
Amino Acid Change Lysine to Glutamic Acid at position 395 (K395E)
Ref Sequence ENSEMBL: ENSMUSP00000098242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074077] [ENSMUST00000100676] [ENSMUST00000111826] [ENSMUST00000141358]
Predicted Effect probably damaging
Transcript: ENSMUST00000074077
AA Change: K395E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835
AA Change: K395E

Pfam:TGFb_propeptide 13 276 1.7e-77 PFAM
TGFB 308 408 4.53e-67 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100676
AA Change: K395E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835
AA Change: K395E

signal peptide 1 24 N/A INTRINSIC
Pfam:TGFb_propeptide 39 276 3.7e-55 PFAM
TGFB 308 408 4.53e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135408
Predicted Effect probably benign
Transcript: ENSMUST00000141358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228667
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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. This protein regulates heart development and adipogenesis. Homozygous knockout mice die in utero, while a conditional knockout mouse exhibits defects in heart development. Transgenic mice overexpressing this gene in a neuron-specific manner exhibit a phenotype resembling the rare hereditary connective tissue disease, fibrodysplasia ossificans progressiva. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted mutants have wide ranging effects, including embryonic lethality, aberrant mesoderm differentation, developmental retardation and disorganized posterior structures; heterozygous null mutants display anomalies of the kidney and urinary tract; other targeted mutants display failure of lens induction and lack primordial germ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,705,072 Y528F possibly damaging Het
Acad10 G A 5: 121,649,541 T115I possibly damaging Het
Adam19 T C 11: 46,127,265 F385L probably damaging Het
Adgb T C 10: 10,442,613 N162D probably benign Het
Arhgap20 C A 9: 51,846,270 P521T probably damaging Het
Arsa A T 15: 89,475,177 L134Q probably damaging Het
Atp5b A G 10: 128,090,052 Y508C probably damaging Het
AW554918 G A 18: 25,420,010 M287I probably benign Het
Cacna2d4 A G 6: 119,300,333 Y669C probably damaging Het
Casq2 T C 3: 102,144,234 probably null Het
Cdk5rap1 A T 2: 154,360,599 I237N possibly damaging Het
Cerk G C 15: 86,149,364 S286C possibly damaging Het
Cir1 A C 2: 73,287,643 L186R probably damaging Het
Csf3r A T 4: 126,042,988 probably null Het
Cyp3a41a A T 5: 145,705,811 I246K possibly damaging Het
Cyp8b1 A G 9: 121,915,282 F328S possibly damaging Het
Dzank1 A T 2: 144,513,445 V110D probably benign Het
Gm13089 T C 4: 143,696,907 I437M possibly damaging Het
Gm6729 T A 10: 86,540,935 noncoding transcript Het
Gnpat T C 8: 124,877,507 F246L probably benign Het
Gnpat T A 8: 124,878,516 L248H probably damaging Het
Gstm7 T C 3: 107,926,950 T163A probably benign Het
Hspa5 A G 2: 34,775,098 T424A probably damaging Het
Itgb1 T G 8: 128,713,305 D158E probably damaging Het
Kif21a A G 15: 90,935,650 V1637A probably benign Het
Kl G T 5: 150,982,520 V452F probably damaging Het
Krt23 T C 11: 99,478,219 N416S probably benign Het
Lama4 A T 10: 39,092,245 H1461L possibly damaging Het
Lamc3 A G 2: 31,928,802 T1180A probably benign Het
Mboat2 T C 12: 24,946,528 Y145H probably damaging Het
Mlxipl T A 5: 135,113,710 I126N probably damaging Het
Myo16 T A 8: 10,570,181 N1577K possibly damaging Het
Nlrp4f A G 13: 65,185,083 V87A possibly damaging Het
Olfr1039 A G 2: 86,131,571 F31L probably benign Het
Olfr414 A T 1: 174,431,135 K236* probably null Het
Pask A T 1: 93,330,827 D266E probably benign Het
Pcdhb17 A G 18: 37,486,846 Y563C probably damaging Het
Pdlim3 T A 8: 45,896,800 I49N probably damaging Het
Pla2g4c T A 7: 13,343,409 V292E possibly damaging Het
Prrt4 G T 6: 29,169,814 Q880K possibly damaging Het
Pygb A G 2: 150,786,938 D24G probably benign Het
R3hcc1l T A 19: 42,563,654 D363E probably damaging Het
Rif1 A C 2: 52,111,562 Q1676P probably benign Het
Ryr1 C A 7: 29,096,258 R1069L probably damaging Het
Sdk2 C T 11: 113,838,646 silent Het
Slc2a13 A G 15: 91,412,160 V317A probably damaging Het
Slc35b4 A T 6: 34,161,684 F197I probably damaging Het
Tchhl1 G A 3: 93,470,213 V75I probably benign Het
Ubr4 T C 4: 139,455,460 S3521P possibly damaging Het
Zbtb14 C A 17: 69,388,502 F398L probably damaging Het
Zfp335 GTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTC 2: 164,907,468 probably benign Het
Zfp874a T G 13: 67,442,420 I382L possibly damaging Het
Other mutations in Bmp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Bmp4 APN 14 46384481 missense probably damaging 1.00
R0749:Bmp4 UTSW 14 46384613 missense probably damaging 0.99
R3104:Bmp4 UTSW 14 46385981 missense probably benign 0.05
R3787:Bmp4 UTSW 14 46385714 critical splice donor site probably null
R3938:Bmp4 UTSW 14 46384079 missense probably damaging 1.00
R4768:Bmp4 UTSW 14 46385924 missense probably damaging 1.00
R5102:Bmp4 UTSW 14 46384001 missense probably damaging 1.00
R5367:Bmp4 UTSW 14 46384493 missense possibly damaging 0.82
R5421:Bmp4 UTSW 14 46385898 missense probably damaging 0.98
R7189:Bmp4 UTSW 14 46383999 missense probably damaging 1.00
R8190:Bmp4 UTSW 14 46384515 missense probably benign
R8915:Bmp4 UTSW 14 46384445 missense probably damaging 1.00
Z1176:Bmp4 UTSW 14 46384628 missense possibly damaging 0.67
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-01-05