Incidental Mutation 'IGL02612:Bmp4'
ID 300504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp4
Ensembl Gene ENSMUSG00000021835
Gene Name bone morphogenetic protein 4
Synonyms Bmp2b-1, Bmp2b1, Bmp2b, Bmp-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02612
Quality Score
Status
Chromosome 14
Chromosomal Location 46620982-46628126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46621938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 202 (D202V)
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: D202V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835
AA Change: D202V

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: D202V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835
AA Change: D202V

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: ENSMUST00000226759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228667
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. 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,971 (GRCm39) M1432L probably benign Het
Alg11 A G 8: 22,551,999 (GRCm39) R48G probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Car12 T G 9: 66,669,706 (GRCm39) L300R probably damaging Het
Cdc37l1 T A 19: 28,993,502 (GRCm39) *336R probably null Het
Cep89 A G 7: 35,124,080 (GRCm39) probably null Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Chd5 A G 4: 152,445,033 (GRCm39) D338G probably damaging Het
Crot A G 5: 9,019,945 (GRCm39) C466R probably damaging Het
Dach2 T C X: 112,660,101 (GRCm39) M194T probably benign Het
Dmrtc1b A G X: 101,756,873 (GRCm39) D100G probably benign Het
Epm2a G A 10: 11,332,980 (GRCm39) R271H probably damaging Het
Fem1c G T 18: 46,638,781 (GRCm39) T407K probably benign Het
Fer1l4 T C 2: 155,889,848 (GRCm39) Y273C probably damaging Het
Foxc2 C A 8: 121,844,576 (GRCm39) A408E probably benign Het
Gbp10 A T 5: 105,366,368 (GRCm39) M512K possibly damaging Het
Gm5134 T C 10: 75,828,323 (GRCm39) L301P probably damaging Het
Grk3 A T 5: 113,117,100 (GRCm39) D100E probably benign Het
Gsdma3 T A 11: 98,526,707 (GRCm39) D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 (GRCm39) L680I possibly damaging Het
Ighv7-2 T C 12: 113,875,766 (GRCm39) Y79C probably damaging Het
Igkv4-50 T C 6: 69,678,024 (GRCm39) T27A probably benign Het
Ints2 T C 11: 86,106,404 (GRCm39) D1002G probably damaging Het
Map4k5 T A 12: 69,896,358 (GRCm39) I169F possibly damaging Het
Mink1 T C 11: 70,488,052 (GRCm39) V39A probably damaging Het
Mms22l T A 4: 24,508,482 (GRCm39) H301Q probably benign Het
Myh4 C T 11: 67,147,305 (GRCm39) T1650I probably benign Het
Or52n4 A T 7: 104,293,870 (GRCm39) D234E probably benign Het
Or8b37 T A 9: 37,958,662 (GRCm39) L48Q probably damaging Het
Or8b44 T C 9: 38,410,769 (GRCm39) M268T probably benign Het
Pate10 T C 9: 35,653,460 (GRCm39) I88T possibly damaging Het
Pbxip1 C T 3: 89,350,988 (GRCm39) T117M probably damaging Het
Pgghg C T 7: 140,526,251 (GRCm39) T572M probably damaging Het
Phactr2 G A 10: 13,121,167 (GRCm39) T511I probably damaging Het
Pip5k1a T C 3: 94,974,724 (GRCm39) I385V probably benign Het
Pwp2 A G 10: 78,018,828 (GRCm39) C60R probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rttn G T 18: 88,991,750 (GRCm39) D110Y probably damaging Het
Setbp1 G T 18: 78,798,925 (GRCm39) H1418Q probably damaging Het
Sf3b3 T C 8: 111,569,608 (GRCm39) I37V probably benign Het
Slc27a6 A T 18: 58,689,977 (GRCm39) I148F probably benign Het
Slmap A G 14: 26,180,621 (GRCm39) probably benign Het
Speer4a3 A C 5: 26,156,614 (GRCm39) Y122D probably benign Het
Stil A G 4: 114,880,893 (GRCm39) Q479R possibly damaging Het
Svop A G 5: 114,166,321 (GRCm39) *549Q probably null Het
Tnks C T 8: 35,316,453 (GRCm39) V889I possibly damaging Het
Tnrc6c T A 11: 117,633,826 (GRCm39) V1308E possibly damaging Het
Vmn1r208 C A 13: 22,956,993 (GRCm39) C168F probably damaging Het
Vmn2r117 A T 17: 23,678,758 (GRCm39) M822K possibly damaging Het
Vwa8 A G 14: 79,420,552 (GRCm39) N1751S probably benign Het
Vwde A T 6: 13,187,148 (GRCm39) F780I probably damaging Het
Washc2 T C 6: 116,197,577 (GRCm39) I184T possibly damaging Het
Wdr26 A T 1: 181,005,361 (GRCm39) probably benign Het
Zfp608 G A 18: 55,031,273 (GRCm39) T889M probably damaging Het
Zfp955a G T 17: 33,463,039 (GRCm39) Q31K probably damaging Het
Zpbp2 T C 11: 98,446,343 (GRCm39) L145S probably benign Het
Other mutations in Bmp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16