Incidental Mutation 'IGL02132:Bmp10'
ID 281039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp10
Ensembl Gene ENSMUSG00000030046
Gene Name bone morphogenetic protein 10
Synonyms b2b2711Clo
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02132
Quality Score
Status
Chromosome 6
Chromosomal Location 87405976-87411494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87411130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 308 (S308P)
Ref Sequence ENSEMBL: ENSMUSP00000032125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032125]
AlphaFold Q9R229
Predicted Effect probably benign
Transcript: ENSMUST00000032125
AA Change: S308P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: S308P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:TGFb_propeptide 52 256 8.1e-24 PFAM
TGFB 320 420 6.7e-52 SMART
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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. Homozygous knockout mice for this gene exhibit impaired heart development and embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice display decreased embryo size, cardiac dysgenesis, defects in early embryonic vascular development, enlarged pericardium, arteriovenous malformations, and embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,614,635 (GRCm39) probably benign Het
4930432E11Rik C T 7: 29,262,704 (GRCm39) noncoding transcript Het
Adcy10 T C 1: 165,400,112 (GRCm39) V1507A probably damaging Het
Ap3b2 T A 7: 81,110,746 (GRCm39) M1010L unknown Het
Cnih3 C A 1: 181,282,274 (GRCm39) Y169* probably null Het
Cpsf4l A G 11: 113,590,685 (GRCm39) S222P possibly damaging Het
Cyp2d10 G A 15: 82,288,808 (GRCm39) probably benign Het
Dcstamp A T 15: 39,617,928 (GRCm39) E112D probably damaging Het
Fras1 C T 5: 96,929,496 (GRCm39) Q3967* probably null Het
Gcm1 C A 9: 77,972,121 (GRCm39) P354H possibly damaging Het
Gen1 A G 12: 11,291,867 (GRCm39) S706P probably benign Het
Glb1l3 G T 9: 26,736,466 (GRCm39) T532N probably benign Het
Gm5069 T A 1: 180,154,872 (GRCm39) probably benign Het
Gzmc A C 14: 56,471,422 (GRCm39) F40V probably benign Het
Itgb2 G T 10: 77,385,895 (GRCm39) C286F probably damaging Het
Jak3 A G 8: 72,131,124 (GRCm39) Y48C probably damaging Het
Lrp2 G A 2: 69,367,960 (GRCm39) S184L probably benign Het
Myo1f T A 17: 33,798,945 (GRCm39) N203K probably benign Het
Nrxn2 G A 19: 6,522,306 (GRCm39) G182R probably damaging Het
Or4k15c T C 14: 50,321,943 (GRCm39) N65S probably damaging Het
Or4p8 A G 2: 88,727,503 (GRCm39) V146A probably benign Het
Or5g23 A C 2: 85,438,664 (GRCm39) L197V probably benign Het
Otog C T 7: 45,954,903 (GRCm39) S2692L probably damaging Het
Pde9a C T 17: 31,672,444 (GRCm39) T34I probably benign Het
Phip T C 9: 82,763,394 (GRCm39) T1295A possibly damaging Het
Pik3cb A G 9: 98,953,430 (GRCm39) V451A probably benign Het
Psd2 T G 18: 36,137,809 (GRCm39) probably benign Het
Pycr2 T C 1: 180,733,762 (GRCm39) I118T probably damaging Het
Rnf17 T G 14: 56,658,623 (GRCm39) M104R probably benign Het
Rp1l1 T C 14: 64,266,259 (GRCm39) V615A probably benign Het
Sel1l3 T A 5: 53,327,747 (GRCm39) R511W possibly damaging Het
Sis T C 3: 72,854,804 (GRCm39) N478D probably benign Het
Trps1 T A 15: 50,685,674 (GRCm39) S584C probably damaging Het
Vmn2r124 T C 17: 18,284,491 (GRCm39) probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Zc3h13 T C 14: 75,567,787 (GRCm39) S1027P probably benign Het
Zfp644 A T 5: 106,783,760 (GRCm39) I929K probably benign Het
Other mutations in Bmp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Bmp10 APN 6 87,406,142 (GRCm39) missense possibly damaging 0.87
IGL00946:Bmp10 APN 6 87,411,344 (GRCm39) missense probably damaging 1.00
IGL01483:Bmp10 APN 6 87,410,933 (GRCm39) missense probably damaging 1.00
R1391:Bmp10 UTSW 6 87,410,740 (GRCm39) missense probably benign 0.00
R1472:Bmp10 UTSW 6 87,410,779 (GRCm39) missense probably benign 0.34
R1938:Bmp10 UTSW 6 87,410,702 (GRCm39) missense possibly damaging 0.77
R2114:Bmp10 UTSW 6 87,411,441 (GRCm39) missense probably benign 0.10
R2158:Bmp10 UTSW 6 87,411,062 (GRCm39) missense probably benign 0.21
R4922:Bmp10 UTSW 6 87,410,557 (GRCm39) missense probably benign 0.00
R5042:Bmp10 UTSW 6 87,411,039 (GRCm39) missense probably damaging 0.98
R6041:Bmp10 UTSW 6 87,411,302 (GRCm39) missense probably damaging 1.00
R7000:Bmp10 UTSW 6 87,411,175 (GRCm39) missense probably benign 0.02
R7593:Bmp10 UTSW 6 87,410,651 (GRCm39) missense probably damaging 1.00
R8682:Bmp10 UTSW 6 87,410,541 (GRCm39) critical splice acceptor site probably null
R8844:Bmp10 UTSW 6 87,410,681 (GRCm39) missense probably damaging 1.00
R9378:Bmp10 UTSW 6 87,410,684 (GRCm39) missense probably benign 0.19
Posted On 2015-04-16