Incidental Mutation 'R1052:Bmp4'
ID 94079
Institutional Source Beutler Lab
Gene Symbol Bmp4
Ensembl Gene ENSMUSG00000021835
Gene Name bone morphogenetic protein 4
Synonyms Bmp2b-1, Bmp2b1, Bmp2b, Bmp-4
MMRRC Submission 039142-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1052 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 46620982-46628126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46621360 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P21275
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000228667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226759
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: 103,535,417 (GRCm39) Y528F possibly damaging Het
Acad10 G A 5: 121,787,604 (GRCm39) T115I possibly damaging Het
Adam19 T C 11: 46,018,092 (GRCm39) F385L probably damaging Het
Adgb T C 10: 10,318,357 (GRCm39) N162D probably benign Het
Arhgap20 C A 9: 51,757,570 (GRCm39) P521T probably damaging Het
Arsa A T 15: 89,359,380 (GRCm39) L134Q probably damaging Het
Atp5f1b A G 10: 127,925,921 (GRCm39) Y508C probably damaging Het
AW554918 G A 18: 25,553,067 (GRCm39) M287I probably benign Het
Cacna2d4 A G 6: 119,277,294 (GRCm39) Y669C probably damaging Het
Casq2 T C 3: 102,051,550 (GRCm39) probably null Het
Cdk5rap1 A T 2: 154,202,519 (GRCm39) I237N possibly damaging Het
Cerk G C 15: 86,033,565 (GRCm39) S286C possibly damaging Het
Cir1 A C 2: 73,117,987 (GRCm39) L186R probably damaging Het
Csf3r A T 4: 125,936,781 (GRCm39) probably null Het
Cyp3a41a A T 5: 145,642,621 (GRCm39) I246K possibly damaging Het
Cyp8b1 A G 9: 121,744,348 (GRCm39) F328S possibly damaging Het
Dzank1 A T 2: 144,355,365 (GRCm39) V110D probably benign Het
Gm6729 T A 10: 86,376,799 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,604,246 (GRCm39) F246L probably benign Het
Gnpat T A 8: 125,605,255 (GRCm39) L248H probably damaging Het
Gstm7 T C 3: 107,834,266 (GRCm39) T163A probably benign Het
Hspa5 A G 2: 34,665,110 (GRCm39) T424A probably damaging Het
Itgb1 T G 8: 129,439,786 (GRCm39) D158E probably damaging Het
Kif21a A G 15: 90,819,853 (GRCm39) V1637A probably benign Het
Kl G T 5: 150,905,985 (GRCm39) V452F probably damaging Het
Krt23 T C 11: 99,369,045 (GRCm39) N416S probably benign Het
Lama4 A T 10: 38,968,241 (GRCm39) H1461L possibly damaging Het
Lamc3 A G 2: 31,818,814 (GRCm39) T1180A probably benign Het
Mboat2 T C 12: 24,996,527 (GRCm39) Y145H probably damaging Het
Mlxipl T A 5: 135,142,564 (GRCm39) I126N probably damaging Het
Myo16 T A 8: 10,620,181 (GRCm39) N1577K possibly damaging Het
Nlrp4f A G 13: 65,332,897 (GRCm39) V87A possibly damaging Het
Or5al5 A G 2: 85,961,915 (GRCm39) F31L probably benign Het
Or6p1 A T 1: 174,258,701 (GRCm39) K236* probably null Het
Pask A T 1: 93,258,549 (GRCm39) D266E probably benign Het
Pcdhb17 A G 18: 37,619,899 (GRCm39) Y563C probably damaging Het
Pdlim3 T A 8: 46,349,837 (GRCm39) I49N probably damaging Het
Pla2g4c T A 7: 13,077,334 (GRCm39) V292E possibly damaging Het
Pramel23 T C 4: 143,423,477 (GRCm39) I437M possibly damaging Het
Prrt4 G T 6: 29,169,813 (GRCm39) Q880K possibly damaging Het
Pygb A G 2: 150,628,858 (GRCm39) D24G probably benign Het
R3hcc1l T A 19: 42,552,093 (GRCm39) D363E probably damaging Het
Rif1 A C 2: 52,001,574 (GRCm39) Q1676P probably benign Het
Ryr1 C A 7: 28,795,683 (GRCm39) R1069L probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc2a13 A G 15: 91,296,363 (GRCm39) V317A probably damaging Het
Slc35b4 A T 6: 34,138,619 (GRCm39) F197I probably damaging Het
Tchhl1 G A 3: 93,377,520 (GRCm39) V75I probably benign Het
Ubr4 T C 4: 139,182,771 (GRCm39) S3521P possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp335 GTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTC 2: 164,749,388 (GRCm39) probably benign Het
Zfp874a T G 13: 67,590,539 (GRCm39) I382L possibly damaging Het
Other mutations in Bmp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Bmp4 APN 14 46,621,938 (GRCm39) missense probably damaging 1.00
R0749:Bmp4 UTSW 14 46,622,070 (GRCm39) missense probably damaging 0.99
R3104:Bmp4 UTSW 14 46,623,438 (GRCm39) missense probably benign 0.05
R3787:Bmp4 UTSW 14 46,623,171 (GRCm39) critical splice donor site probably null
R3938:Bmp4 UTSW 14 46,621,536 (GRCm39) missense probably damaging 1.00
R4768:Bmp4 UTSW 14 46,623,381 (GRCm39) missense probably damaging 1.00
R5102:Bmp4 UTSW 14 46,621,458 (GRCm39) missense probably damaging 1.00
R5367:Bmp4 UTSW 14 46,621,950 (GRCm39) missense possibly damaging 0.82
R5421:Bmp4 UTSW 14 46,623,355 (GRCm39) missense probably damaging 0.98
R7189:Bmp4 UTSW 14 46,621,456 (GRCm39) missense probably damaging 1.00
R8190:Bmp4 UTSW 14 46,621,972 (GRCm39) missense probably benign
R8915:Bmp4 UTSW 14 46,621,902 (GRCm39) missense probably damaging 1.00
Z1176:Bmp4 UTSW 14 46,622,085 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- GCTGATAACACCTCCAGTTGCCAC -3'
(R):5'- AGAAGAATAAGAACTGCCGTCGCC -3'

Sequencing Primer
(F):5'- CATCTCGACATTCAAGAGTATGG -3'
(R):5'- CACTATACGTGGACTTCAGTGAC -3'
Posted On 2014-01-05