Incidental Mutation 'R0557:Gdf2'
ID 45674
Institutional Source Beutler Lab
Gene Symbol Gdf2
Ensembl Gene ENSMUSG00000072625
Gene Name growth differentiation factor 2
Synonyms Bmp9
MMRRC Submission 038749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0557 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 33662996-33669155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33663178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 24 (P24L)
Ref Sequence ENSEMBL: ENSMUSP00000098286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100720] [ENSMUST00000168727]
AlphaFold Q9WV56
PDB Structure Pro-bone morphogenetic protein 9 [X-RAY DIFFRACTION]
non-latent pro-bone morphogenetic protein 9 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000100720
AA Change: P24L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098286
Gene: ENSMUSG00000072625
AA Change: P24L

signal peptide 1 21 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
Pfam:TGFb_propeptide 55 256 8.5e-21 PFAM
TGFB 326 428 3.83e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168727
SMART Domains Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943

signal peptide 1 29 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
TGFB 374 476 1e-50 SMART
Meta Mutation Damage Score 0.3154 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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 cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Homozygous null mice exhibit malformations of the vasculature and skeleton. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show arteriovenous malformations, skeletal anomalies, and abnormal retinal vasculature after anti-BMP10-antibody treatment. Homozygotes for a different null allele show abnormal retinal and tracheal vasculature and tracheal lymphatic vessels after anti-BMP10 treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,903,519 (GRCm39) H266Y probably damaging Het
Abi3bp C T 16: 56,488,750 (GRCm39) R1294C probably damaging Het
Acot3 T C 12: 84,105,630 (GRCm39) Y366H probably damaging Het
Ago1 A G 4: 126,353,817 (GRCm39) V254A probably benign Het
Ahnak T A 19: 8,979,308 (GRCm39) D197E probably benign Het
Aldh1b1 A T 4: 45,802,647 (GRCm39) T62S probably benign Het
Alox12e T C 11: 70,212,274 (GRCm39) R135G possibly damaging Het
Amn1 T C 6: 149,072,503 (GRCm39) Y78C possibly damaging Het
Ankmy2 G A 12: 36,237,765 (GRCm39) S288N probably benign Het
Ano3 A T 2: 110,693,297 (GRCm39) probably null Het
Arfgap3 T C 15: 83,187,386 (GRCm39) D491G probably damaging Het
Arhgap15 T C 2: 44,006,629 (GRCm39) S249P possibly damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
Cabin1 A G 10: 75,562,751 (GRCm39) Y12H probably damaging Het
Cdkn2aip T C 8: 48,165,977 (GRCm39) T110A probably damaging Het
Cemip2 C T 19: 21,789,267 (GRCm39) A567V probably benign Het
Chchd6 A G 6: 89,551,569 (GRCm39) S31P probably damaging Het
Chrna3 A G 9: 54,923,149 (GRCm39) Y220H probably damaging Het
Ctu1 A G 7: 43,326,583 (GRCm39) D414G unknown Het
Cxxc1 C T 18: 74,351,845 (GRCm39) R241W possibly damaging Het
Cyp3a16 A G 5: 145,406,398 (GRCm39) I18T unknown Het
Dip2c A T 13: 9,603,495 (GRCm39) I405F possibly damaging Het
Disp3 A T 4: 148,325,861 (GRCm39) M1299K possibly damaging Het
Dnah9 T G 11: 65,975,492 (GRCm39) H1519P probably damaging Het
Ehd3 C A 17: 74,136,928 (GRCm39) Q366K probably benign Het
Exosc3 A T 4: 45,316,957 (GRCm39) M232K probably damaging Het
Fancm T C 12: 65,165,216 (GRCm39) probably null Het
Fgfr2 A G 7: 129,820,811 (GRCm39) V241A probably damaging Het
Hars2 T C 18: 36,924,130 (GRCm39) I489T possibly damaging Het
Ice1 T C 13: 70,749,310 (GRCm39) I1945V probably benign Het
Il33 A C 19: 29,932,036 (GRCm39) N143T probably damaging Het
Ilvbl G A 10: 78,419,321 (GRCm39) W313* probably null Het
Insyn2a A G 7: 134,520,434 (GRCm39) L32P probably damaging Het
Isca1 G T 13: 59,904,788 (GRCm39) Q91K possibly damaging Het
Kcnh5 T A 12: 75,161,323 (GRCm39) Y195F probably damaging Het
Lama4 T G 10: 38,964,393 (GRCm39) I1355S probably benign Het
Lonrf1 T C 8: 36,697,574 (GRCm39) D470G probably benign Het
Mak A G 13: 41,193,135 (GRCm39) Y446H probably benign Het
Mki67 C T 7: 135,300,990 (GRCm39) S1348N possibly damaging Het
Mpzl3 A G 9: 44,977,806 (GRCm39) Y138C probably damaging Het
Myh8 T C 11: 67,192,624 (GRCm39) L1501P possibly damaging Het
Naa35 A G 13: 59,775,778 (GRCm39) E552G probably damaging Het
Ncor2 A T 5: 125,183,369 (GRCm39) L200* probably null Het
Nrm T C 17: 36,175,524 (GRCm39) V210A probably damaging Het
Nt5e T A 9: 88,248,519 (GRCm39) N405K probably damaging Het
Or1j4 T A 2: 36,740,760 (GRCm39) I234N possibly damaging Het
Or1o11 T A 17: 37,756,712 (GRCm39) I100N probably damaging Het
Orc2 T C 1: 58,508,846 (GRCm39) S434G probably damaging Het
Plcb4 G A 2: 135,796,269 (GRCm39) V388I probably damaging Het
Ppm1l A G 3: 69,405,234 (GRCm39) D177G probably benign Het
Prl8a2 A T 13: 27,536,875 (GRCm39) R165* probably null Het
Ptbp3 G A 4: 59,517,684 (GRCm39) R66* probably null Het
Pten A G 19: 32,795,290 (GRCm39) T286A probably benign Het
Rac2 C T 15: 78,449,174 (GRCm39) V113M probably damaging Het
Rai1 C T 11: 60,081,321 (GRCm39) T1795I probably benign Het
Ros1 T G 10: 51,961,359 (GRCm39) K1792Q possibly damaging Het
Sema6a A G 18: 47,382,567 (GRCm39) V660A probably benign Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc26a5 A G 5: 22,024,762 (GRCm39) S441P probably damaging Het
Slc27a3 A G 3: 90,294,163 (GRCm39) L462P probably damaging Het
Spag5 T A 11: 78,205,037 (GRCm39) S607R probably damaging Het
Spata18 A T 5: 73,809,013 (GRCm39) N29Y probably damaging Het
Spata20 C T 11: 94,376,048 (GRCm39) R22H probably benign Het
Spsb2 A C 6: 124,787,355 (GRCm39) Y263S probably damaging Het
Sptbn4 C A 7: 27,107,753 (GRCm39) E885* probably null Het
Syne2 T C 12: 75,976,075 (GRCm39) I1175T probably benign Het
Tmem209 A C 6: 30,501,913 (GRCm39) H253Q probably damaging Het
Trip12 A T 1: 84,702,468 (GRCm39) D788E probably damaging Het
Usp34 T C 11: 23,353,848 (GRCm39) S1509P probably damaging Het
Utp20 A T 10: 88,584,173 (GRCm39) D2661E probably damaging Het
Vars1 C A 17: 35,223,960 (GRCm39) P264Q possibly damaging Het
Vmn2r66 T G 7: 84,643,972 (GRCm39) S813R probably damaging Het
Wipf2 C A 11: 98,782,915 (GRCm39) Q114K possibly damaging Het
Wnt5b G T 6: 119,410,779 (GRCm39) H220Q probably damaging Het
Xirp2 A G 2: 67,346,695 (GRCm39) T2979A probably benign Het
Zfyve9 A G 4: 108,531,708 (GRCm39) V408A probably damaging Het
Zzef1 T C 11: 72,808,556 (GRCm39) S2744P probably damaging Het
Other mutations in Gdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0631:Gdf2 UTSW 14 33,663,178 (GRCm39) missense probably damaging 1.00
R0739:Gdf2 UTSW 14 33,663,178 (GRCm39) missense probably damaging 1.00
R2142:Gdf2 UTSW 14 33,667,198 (GRCm39) missense probably benign
R2292:Gdf2 UTSW 14 33,667,145 (GRCm39) missense possibly damaging 0.60
R3615:Gdf2 UTSW 14 33,666,914 (GRCm39) missense probably damaging 1.00
R3616:Gdf2 UTSW 14 33,666,914 (GRCm39) missense probably damaging 1.00
R3974:Gdf2 UTSW 14 33,666,791 (GRCm39) missense probably damaging 0.97
R3975:Gdf2 UTSW 14 33,666,791 (GRCm39) missense probably damaging 0.97
R3976:Gdf2 UTSW 14 33,666,791 (GRCm39) missense probably damaging 0.97
R4665:Gdf2 UTSW 14 33,667,408 (GRCm39) missense probably damaging 1.00
R5007:Gdf2 UTSW 14 33,666,863 (GRCm39) missense probably benign 0.02
R5227:Gdf2 UTSW 14 33,663,451 (GRCm39) critical splice donor site probably null
R5253:Gdf2 UTSW 14 33,667,264 (GRCm39) missense probably benign 0.14
R5259:Gdf2 UTSW 14 33,666,788 (GRCm39) missense probably benign 0.01
R6286:Gdf2 UTSW 14 33,667,057 (GRCm39) missense probably damaging 1.00
R7644:Gdf2 UTSW 14 33,666,847 (GRCm39) missense probably benign 0.00
R8472:Gdf2 UTSW 14 33,666,797 (GRCm39) missense probably damaging 1.00
R9067:Gdf2 UTSW 14 33,663,411 (GRCm39) missense probably benign 0.20
R9525:Gdf2 UTSW 14 33,667,564 (GRCm39) makesense probably null
Z1177:Gdf2 UTSW 14 33,667,274 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-11