Incidental Mutation 'R8682:Bmp10'
ID 661803
Institutional Source Beutler Lab
Gene Symbol Bmp10
Ensembl Gene ENSMUSG00000030046
Gene Name bone morphogenetic protein 10
MMRRC Submission 068537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87428994-87437677 bp(+) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 87433559 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032125]
AlphaFold Q9R229
Predicted Effect probably null
Transcript: ENSMUST00000032125
SMART Domains Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046

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: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,423,899 (GRCm38) L141Q probably null Het
Abtb2 A T 2: 103,567,375 (GRCm38) T217S probably benign Het
Adcy1 T C 11: 7,161,328 (GRCm38) I873T probably damaging Het
Angpt4 A G 2: 151,927,085 (GRCm38) M172V probably benign Het
Apaf1 A T 10: 90,995,670 (GRCm38) V1194D probably damaging Het
Arhgap30 T C 1: 171,407,402 (GRCm38) S479P probably benign Het
Asah2 C T 19: 32,052,877 (GRCm38) V132M probably damaging Het
Bsn T C 9: 108,106,169 (GRCm38) Y790C Het
Cacna2d1 C A 5: 16,353,839 (GRCm38) R732S possibly damaging Het
Casr A T 16: 36,495,422 (GRCm38) F762Y possibly damaging Het
Cbln1 T C 8: 87,472,107 (GRCm38) D45G possibly damaging Het
Cd177 A T 7: 24,760,013 (GRCm38) M61K possibly damaging Het
Cdh11 T C 8: 102,650,716 (GRCm38) I433V probably benign Het
Cdhr5 A G 7: 141,275,986 (GRCm38) probably null Het
Col12a1 T A 9: 79,661,076 (GRCm38) K1622I probably benign Het
Cyp2d9 A G 15: 82,453,716 (GRCm38) D103G probably damaging Het
Eif4a3l1 A G 6: 136,329,029 (GRCm38) T163A possibly damaging Het
Fem1b A T 9: 62,797,150 (GRCm38) L276* probably null Het
Fggy T A 4: 95,812,121 (GRCm38) V343E probably damaging Het
Flt3 A G 5: 147,383,455 (GRCm38) V33A probably benign Het
Gm6904 G A 14: 59,258,584 (GRCm38) T27I probably benign Het
Grn T C 11: 102,434,820 (GRCm38) Y288H probably benign Het
Grtp1 G A 8: 13,179,499 (GRCm38) R272W probably damaging Het
H2-Aa A G 17: 34,283,760 (GRCm38) I144T possibly damaging Het
Herc1 A G 9: 66,462,848 (GRCm38) D469G Het
Hsf2 G A 10: 57,505,171 (GRCm38) E286K possibly damaging Het
Hydin A G 8: 110,309,166 (GRCm38) E163G probably damaging Het
Il6ra A G 3: 89,886,669 (GRCm38) I224T possibly damaging Het
Itih3 T A 14: 30,920,716 (GRCm38) I204F possibly damaging Het
Kcnj9 A T 1: 172,326,113 (GRCm38) M148K possibly damaging Het
Lepr T G 4: 101,792,072 (GRCm38) V890G probably benign Het
Mslnl A G 17: 25,746,988 (GRCm38) D612G probably benign Het
Myl2 T A 5: 122,106,735 (GRCm38) V156D probably damaging Het
Neb C A 2: 52,246,845 (GRCm38) W3208L probably damaging Het
Neto2 T C 8: 85,640,666 (GRCm38) Y511C probably benign Het
Obox2 C A 7: 15,396,987 (GRCm38) T48K possibly damaging Het
Or14a259 C T 7: 86,364,165 (GRCm38) M57I probably damaging Het
Or51f2 T A 7: 102,877,439 (GRCm38) F106L probably benign Het
Or5aq6 A T 2: 87,093,046 (GRCm38) M117K possibly damaging Het
Osbpl6 C G 2: 76,577,081 (GRCm38) H486D probably benign Het
Pfkfb3 T C 2: 11,484,333 (GRCm38) K264E probably benign Het
Pla2r1 T A 2: 60,422,776 (GRCm38) T1324S possibly damaging Het
Plekhg1 A T 10: 3,947,523 (GRCm38) Y495F Het
Ppp2r5d T C 17: 46,687,063 (GRCm38) K225E probably benign Het
Ptpn11 T C 5: 121,167,990 (GRCm38) D64G possibly damaging Het
Ptprs A G 17: 56,435,849 (GRCm38) I431T probably damaging Het
Rapgef5 T C 12: 117,581,812 (GRCm38) S100P probably benign Het
Rnf219 G T 14: 104,480,233 (GRCm38) R235S probably damaging Het
Shh T A 5: 28,458,060 (GRCm38) H370L probably benign Het
Siah3 A T 14: 75,525,603 (GRCm38) H98L possibly damaging Het
Sim2 C T 16: 94,123,333 (GRCm38) H446Y probably benign Het
Skint4 T C 4: 112,136,040 (GRCm38) I320T possibly damaging Het
Sorcs1 A T 19: 50,378,960 (GRCm38) N221K probably damaging Het
Sox6 T C 7: 115,476,956 (GRCm38) S816G probably damaging Het
Sphkap T C 1: 83,279,276 (GRCm38) T251A probably benign Het
Stard9 T C 2: 120,703,315 (GRCm38) V3351A possibly damaging Het
Tbc1d15 A G 10: 115,210,290 (GRCm38) V436A probably benign Het
Thsd7b A T 1: 129,760,274 (GRCm38) K641* probably null Het
Tmc5 G T 7: 118,670,702 (GRCm38) V892F possibly damaging Het
Tpsab1 T A 17: 25,343,711 (GRCm38) H238L probably benign Het
Trank1 A G 9: 111,365,344 (GRCm38) N812S probably benign Het
Trio T A 15: 27,905,192 (GRCm38) N163Y unknown Het
Ttc39d A G 17: 80,217,264 (GRCm38) T451A probably benign Het
Ube3b T C 5: 114,412,290 (GRCm38) L832P probably damaging Het
Vmn2r15 C A 5: 109,294,072 (GRCm38) C165F probably damaging Het
Vmn2r90 T C 17: 17,712,082 (GRCm38) F84L possibly damaging Het
Wdr60 A T 12: 116,224,990 (GRCm38) H661Q probably damaging Het
Wdr95 C T 5: 149,595,287 (GRCm38) T531I possibly damaging Het
Zcrb1 C A 15: 93,386,237 (GRCm38) G191V probably benign Het
Zfp111 G A 7: 24,198,558 (GRCm38) P544S probably damaging Het
Zfyve9 T C 4: 108,719,342 (GRCm38) S181G probably benign Het
Other mutations in Bmp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Bmp10 APN 6 87,429,160 (GRCm38) missense possibly damaging 0.87
IGL00946:Bmp10 APN 6 87,434,362 (GRCm38) missense probably damaging 1.00
IGL01483:Bmp10 APN 6 87,433,951 (GRCm38) missense probably damaging 1.00
IGL02132:Bmp10 APN 6 87,434,148 (GRCm38) missense probably benign
R1391:Bmp10 UTSW 6 87,433,758 (GRCm38) missense probably benign 0.00
R1472:Bmp10 UTSW 6 87,433,797 (GRCm38) missense probably benign 0.34
R1938:Bmp10 UTSW 6 87,433,720 (GRCm38) missense possibly damaging 0.77
R2114:Bmp10 UTSW 6 87,434,459 (GRCm38) missense probably benign 0.10
R2158:Bmp10 UTSW 6 87,434,080 (GRCm38) missense probably benign 0.21
R4922:Bmp10 UTSW 6 87,433,575 (GRCm38) missense probably benign 0.00
R5042:Bmp10 UTSW 6 87,434,057 (GRCm38) missense probably damaging 0.98
R6041:Bmp10 UTSW 6 87,434,320 (GRCm38) missense probably damaging 1.00
R7000:Bmp10 UTSW 6 87,434,193 (GRCm38) missense probably benign 0.02
R7593:Bmp10 UTSW 6 87,433,669 (GRCm38) missense probably damaging 1.00
R8844:Bmp10 UTSW 6 87,433,699 (GRCm38) missense probably damaging 1.00
R9378:Bmp10 UTSW 6 87,433,702 (GRCm38) missense probably benign 0.19
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-03-08