Incidental Mutation 'R5042:Bmp10'
ID 393247
Institutional Source Beutler Lab
Gene Symbol Bmp10
Ensembl Gene ENSMUSG00000030046
Gene Name bone morphogenetic protein 10
Synonyms b2b2711Clo
MMRRC Submission 042632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5042 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87405976-87411494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87411039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 277 (E277D)
Ref Sequence ENSEMBL: ENSMUSP00000032125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032125]
AlphaFold Q9R229
Predicted Effect probably damaging
Transcript: ENSMUST00000032125
AA Change: E277D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: E277D

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
Meta Mutation Damage Score 0.0682 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V 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
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
Predicted Primers PCR Primer
(F):5'- TTTGACGTCACAGATGCCACC -3'
(R):5'- ACCCAATCTCCTTGAAGTCG -3'

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