Incidental Mutation 'R8915:Bmp4'
ID 678897
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 068703-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8915 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 46620982-46628126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46621902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 214 (E214V)
Ref Sequence ENSEMBL: ENSMUSP00000073720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074077] [ENSMUST00000100676] [ENSMUST00000111826] [ENSMUST00000141358]
AlphaFold P21275
Predicted Effect probably damaging
Transcript: ENSMUST00000074077
AA Change: E214V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835
AA Change: E214V

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: E214V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835
AA Change: E214V

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 probably benign
Transcript: ENSMUST00000141358
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 T A 7: 43,903,751 (GRCm39) H217L possibly damaging Het
Adgrv1 C T 13: 81,715,558 (GRCm39) V877I probably damaging Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Asxl3 T A 18: 22,657,763 (GRCm39) D1924E probably benign Het
Calhm5 T C 10: 33,968,415 (GRCm39) S213G probably benign Het
Carmil1 A G 13: 24,325,709 (GRCm39) L207P probably damaging Het
Cdh24 T C 14: 54,876,612 (GRCm39) D71G probably damaging Het
Cdhr2 G T 13: 54,874,184 (GRCm39) W752L probably benign Het
Clec1b T C 6: 129,382,212 (GRCm39) *230Q probably null Het
Ctbs T C 3: 146,169,724 (GRCm39) V327A probably benign Het
Cyp2c40 A T 19: 39,795,991 (GRCm39) I129N probably benign Het
Dnajc10 T A 2: 80,147,801 (GRCm39) L21H possibly damaging Het
Dysf A G 6: 84,156,736 (GRCm39) D1487G probably benign Het
Epb42 T C 2: 120,849,987 (GRCm39) Q674R possibly damaging Het
Foxb2 T C 19: 16,850,958 (GRCm39) Y16C unknown Het
Fto T C 8: 92,136,471 (GRCm39) probably null Het
Gcfc2 A G 6: 81,918,347 (GRCm39) K346E probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpam A G 19: 55,077,312 (GRCm39) S160P probably benign Het
Has2 C T 15: 56,531,885 (GRCm39) V277I probably damaging Het
Herc1 T C 9: 66,318,456 (GRCm39) Y1243H probably damaging Het
Hhat C T 1: 192,277,203 (GRCm39) E419K probably benign Het
Hsd17b11 T C 5: 104,140,802 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Lactbl1 G T 4: 136,360,243 (GRCm39) A141S probably benign Het
Ncoa5 T C 2: 164,854,927 (GRCm39) D65G possibly damaging Het
Nfkbie A G 17: 45,871,067 (GRCm39) I240V probably benign Het
Nim1k T A 13: 120,173,874 (GRCm39) D340V probably benign Het
Oas2 T C 5: 120,876,449 (GRCm39) K498R possibly damaging Het
Or52e2 C T 7: 102,804,411 (GRCm39) C181Y probably damaging Het
Pard6g T C 18: 80,160,957 (GRCm39) S357P probably damaging Het
Pigk G A 3: 152,472,098 (GRCm39) E384K probably benign Het
Ppp4r1 T C 17: 66,136,376 (GRCm39) V528A probably damaging Het
Rbm34 A G 8: 127,679,908 (GRCm39) probably benign Het
Rnd1 A G 15: 98,575,181 (GRCm39) V17A probably damaging Het
Ros1 C T 10: 51,977,805 (GRCm39) probably benign Het
Samd14 A C 11: 94,912,027 (GRCm39) D168A probably damaging Het
Scin T C 12: 40,123,432 (GRCm39) S484G probably damaging Het
Scn11a C T 9: 119,603,363 (GRCm39) W1101* probably null Het
Scrn3 T A 2: 73,148,636 (GRCm39) V69D probably damaging Het
Serpina3j A G 12: 104,281,309 (GRCm39) T161A probably benign Het
Sh3bp4 C A 1: 89,080,064 (GRCm39) A873D probably damaging Het
Tmem131 A T 1: 36,868,658 (GRCm39) I389N probably damaging Het
Tpp2 T C 1: 44,016,415 (GRCm39) L690P probably damaging Het
Trip13 T C 13: 74,081,085 (GRCm39) T94A probably benign Het
Vmn1r114 A T 7: 20,545,171 (GRCm39) L314* probably null Het
Vmn2r44 A G 7: 8,370,650 (GRCm39) Y799H probably damaging Het
Zfp574 T C 7: 24,780,769 (GRCm39) L597P probably damaging Het
Zfp944 A T 17: 22,558,507 (GRCm39) C247S probably benign 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
R1052:Bmp4 UTSW 14 46,621,360 (GRCm39) missense probably damaging 1.00
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
Z1176:Bmp4 UTSW 14 46,622,085 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- ATCATGGCCAAAAGTGACCAG -3'
(R):5'- CAGCATCCCAGAGAATGAGGTG -3'

Sequencing Primer
(F):5'- CAGGAGGGGCCGGAGTTG -3'
(R):5'- TCCCAGAGAATGAGGTGATCTCC -3'
Posted On 2021-08-02