Incidental Mutation 'R8844:Bmp10'
ID 674599
Institutional Source Beutler Lab
Gene Symbol Bmp10
Ensembl Gene ENSMUSG00000030046
Gene Name bone morphogenetic protein 10
Synonyms b2b2711Clo
MMRRC Submission 068733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8844 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87405976-87411494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87410681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 158 (Y158C)
Ref Sequence ENSEMBL: ENSMUSP00000032125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032125]
AlphaFold Q9R229
Predicted Effect probably damaging
Transcript: ENSMUST00000032125
AA Change: Y158C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: Y158C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,011 (GRCm39) H89L possibly damaging Het
Ahnak T C 19: 8,984,254 (GRCm39) V1846A probably damaging Het
Arhgap9 A T 10: 127,161,015 (GRCm39) T181S probably benign Het
Clec14a A G 12: 58,315,599 (GRCm39) C8R possibly damaging Het
Cntln A G 4: 84,892,234 (GRCm39) H373R probably damaging Het
Cpn2 A G 16: 30,078,115 (GRCm39) S529P probably damaging Het
Csmd3 T C 15: 47,604,590 (GRCm39) N1051S probably damaging Het
Csmd3 G A 15: 48,536,815 (GRCm39) T129M probably damaging Het
F12 T C 13: 55,568,198 (GRCm39) H432R probably damaging Het
Foxm1 T C 6: 128,350,439 (GRCm39) F595S probably damaging Het
Foxred2 A T 15: 77,832,677 (GRCm39) I410N probably benign Het
Fstl5 T A 3: 76,337,154 (GRCm39) F238I possibly damaging Het
Galnt3 A G 2: 65,915,636 (GRCm39) V575A probably benign Het
Gpr149 T A 3: 62,502,572 (GRCm39) Y428F probably benign Het
Gtf2ird1 A T 5: 134,389,879 (GRCm39) Y970* probably null Het
Hint2 G C 4: 43,654,343 (GRCm39) Q157E probably damaging Het
Ighe T C 12: 113,235,006 (GRCm39) T385A Het
Kcnc4 G A 3: 107,355,396 (GRCm39) R351C probably damaging Het
Kif7 A G 7: 79,357,280 (GRCm39) L642S possibly damaging Het
Lilra5 T A 7: 4,241,663 (GRCm39) V154D probably damaging Het
Morc2b A G 17: 33,354,742 (GRCm39) L1010P probably damaging Het
Mphosph10 C A 7: 64,027,087 (GRCm39) K575N probably damaging Het
Mup7 C A 4: 60,067,537 (GRCm39) E193* probably null Het
Nbea T C 3: 55,998,415 (GRCm39) T131A probably damaging Het
Nostrin T C 2: 69,006,060 (GRCm39) I248T probably damaging Het
Nrxn3 A T 12: 89,153,920 (GRCm39) I296F possibly damaging Het
Odam A G 5: 88,037,322 (GRCm39) E172G probably damaging Het
Optn A G 2: 5,031,923 (GRCm39) probably null Het
Or5ac16 G C 16: 59,021,929 (GRCm39) P287A probably damaging Het
Osbpl8 T A 10: 111,112,336 (GRCm39) Y484N probably damaging Het
Patj A G 4: 98,480,206 (GRCm39) N1308D probably damaging Het
Pcdhb17 A T 18: 37,618,801 (GRCm39) E197V probably benign Het
Pcolce2 G A 9: 95,563,625 (GRCm39) D204N possibly damaging Het
Plxna4 T G 6: 32,174,026 (GRCm39) T1190P probably benign Het
Pramel22 A T 4: 143,380,976 (GRCm39) F349Y probably damaging Het
Pzp T C 6: 128,500,950 (GRCm39) Y136C probably damaging Het
Scn10a A T 9: 119,446,791 (GRCm39) N1411K probably damaging Het
Scube1 A G 15: 83,561,164 (GRCm39) C143R probably damaging Het
Stau1 T C 2: 166,793,266 (GRCm39) T290A probably benign Het
Sycp1 T A 3: 102,772,421 (GRCm39) K629I probably damaging Het
Taf1d A G 9: 15,221,324 (GRCm39) E210G probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tmem229a T C 6: 24,955,187 (GRCm39) D189G probably benign Het
Tmem269 G A 4: 119,062,876 (GRCm39) P254S probably damaging Het
Top1 T A 2: 160,563,469 (GRCm39) F767I probably damaging Het
Ube2q2 C A 9: 55,102,757 (GRCm39) A331D Het
Usp1 A G 4: 98,823,017 (GRCm39) Y777C probably damaging Het
Usp29 A G 7: 6,964,891 (GRCm39) N245D probably benign Het
Vmn1r212 T A 13: 23,067,526 (GRCm39) Q269L probably benign Het
Wfdc11 T A 2: 164,507,373 (GRCm39) Y28F probably benign Het
Wwp2 A T 8: 108,210,048 (GRCm39) D142V probably damaging 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
IGL02132:Bmp10 APN 6 87,411,130 (GRCm39) missense probably benign
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
R9378:Bmp10 UTSW 6 87,410,684 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GCATACTGCAAGTCTGGTTTCTC -3'
(R):5'- TGGGCACTCATATCTATTTCCAG -3'

Sequencing Primer
(F):5'- CTGCAAGTCTGGTTTCTCATAAG -3'
(R):5'- TCCGGTGTCCTCAGCTTGG -3'
Posted On 2021-07-15