Incidental Mutation 'R5102:Bmp4'
ID 392442
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 042690-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5102 (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 46621458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 362 (N362S)
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: N362S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835
AA Change: N362S

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: N362S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835
AA Change: N362S

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: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C T 1: 58,279,937 (GRCm39) R518C probably damaging Het
Apbb2 A T 5: 66,469,592 (GRCm39) probably null Het
Arhgap45 C T 10: 79,857,262 (GRCm39) P254S probably benign Het
Arl4c T C 1: 88,629,322 (GRCm39) D22G probably damaging Het
Asxl1 A G 2: 153,242,875 (GRCm39) T1142A probably benign Het
BC035044 T C 6: 128,861,949 (GRCm39) probably benign Het
Cbll1 G T 12: 31,537,912 (GRCm39) T280N probably damaging Het
Cdh10 A T 15: 18,986,971 (GRCm39) T401S probably benign Het
Cmklr2 A G 1: 63,222,326 (GRCm39) V303A probably damaging Het
Cps1 A T 1: 67,245,952 (GRCm39) M1148L probably benign Het
Crybg1 T C 10: 43,873,832 (GRCm39) D1092G probably damaging Het
Cyth2 A G 7: 45,460,126 (GRCm39) S173P probably damaging Het
D6Ertd527e A T 6: 87,088,793 (GRCm39) I319F unknown Het
Dchs1 A T 7: 105,421,384 (GRCm39) H345Q probably benign Het
Ddx50 A T 10: 62,476,640 (GRCm39) V211E probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnajb5 G A 4: 42,956,639 (GRCm39) D109N possibly damaging Het
Dner A T 1: 84,383,691 (GRCm39) N564K probably damaging Het
Fam234b T C 6: 135,186,282 (GRCm39) S97P probably benign Het
Fam53b G A 7: 132,317,684 (GRCm39) R60* probably null Het
Fmo3 T G 1: 162,791,546 (GRCm39) K244Q probably benign Het
Golim4 A G 3: 75,810,579 (GRCm39) I192T possibly damaging Het
Gprin1 T C 13: 54,887,576 (GRCm39) M233V probably benign Het
Gtf2f1 A T 17: 57,310,626 (GRCm39) V443D probably damaging Het
Hmgcs2 T C 3: 98,187,786 (GRCm39) probably benign Het
Ide T A 19: 37,292,383 (GRCm39) I271L unknown Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif14 A G 1: 136,444,141 (GRCm39) I1378V probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lhx6 T C 2: 35,984,222 (GRCm39) probably null Het
Lrp2 C T 2: 69,319,502 (GRCm39) G2007D probably damaging Het
Lrp5 T C 19: 3,709,304 (GRCm39) K142R probably damaging Het
Macroh2a1 C G 13: 56,243,936 (GRCm39) probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Mtrfr A G 5: 124,476,954 (GRCm39) N83D probably damaging Het
Nacad T A 11: 6,548,528 (GRCm39) D1402V probably damaging Het
Ndfip2 T C 14: 105,535,539 (GRCm39) I275T possibly damaging Het
Neb A C 2: 52,116,582 (GRCm39) V4131G possibly damaging Het
Nfe2l1 G A 11: 96,712,934 (GRCm39) A83V probably damaging Het
Nos3 A G 5: 24,576,625 (GRCm39) D418G probably damaging Het
Or12e7 A T 2: 87,288,138 (GRCm39) M210L probably benign Het
Or1n1b T A 2: 36,780,056 (GRCm39) K268M possibly damaging Het
Plcd4 A G 1: 74,604,313 (GRCm39) T764A probably damaging Het
Plppr3 G T 10: 79,701,220 (GRCm39) P541T possibly damaging Het
Polr2a A G 11: 69,637,771 (GRCm39) I191T possibly damaging Het
Pramel18 T C 4: 101,766,436 (GRCm39) F40S probably damaging Het
Rab11fip1 T C 8: 27,646,402 (GRCm39) K225E probably damaging Het
Rara A T 11: 98,857,185 (GRCm39) Q64L possibly damaging Het
Rtkn G A 6: 83,126,754 (GRCm39) V305M probably damaging Het
Sh2b1 A C 7: 126,070,408 (GRCm39) F399V probably benign Het
Slc7a4 T C 16: 17,393,482 (GRCm39) T106A probably damaging Het
Srcap G A 7: 127,129,795 (GRCm39) G539D probably damaging Het
Stab1 C T 14: 30,869,974 (GRCm39) probably null Het
Zfp267 G A 3: 36,216,814 (GRCm39) C55Y 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
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
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'- TCCAGCTATAGGGAAGCAGTTTG -3'
(R):5'- AAGAACTGCCGTCGCCATTC -3'

Sequencing Primer
(F):5'- AGCTATAGGGAAGCAGTTTGTGTGG -3'
(R):5'- CACTATACGTGGACTTCAGTGACG -3'
Posted On 2016-06-15