Incidental Mutation 'R6286:Gdf2'
ID 508248
Institutional Source Beutler Lab
Gene Symbol Gdf2
Ensembl Gene ENSMUSG00000072625
Gene Name growth differentiation factor 2
Synonyms Bmp9
MMRRC Submission 044456-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6286 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 33662996-33669155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33667057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 260 (R260C)
Ref Sequence ENSEMBL: ENSMUSP00000098286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100720]
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: R260C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098286
Gene: ENSMUSG00000072625
AA Change: R260C

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 98% (40/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 72,187,842 (GRCm39) M1300L probably damaging Het
C3 A T 17: 57,531,118 (GRCm39) I356N probably damaging Het
Cntnap5b T A 1: 100,182,798 (GRCm39) S276T possibly damaging Het
Cts7 C T 13: 61,500,584 (GRCm39) G321E probably damaging Het
Cyp11a1 G A 9: 57,924,701 (GRCm39) probably benign Het
Ddx4 T C 13: 112,750,269 (GRCm39) T421A probably damaging Het
Dnttip2 A G 3: 122,078,049 (GRCm39) T694A probably damaging Het
Eif3b G T 5: 140,405,566 (GRCm39) D151Y probably damaging Het
Fhad1 T A 4: 141,648,209 (GRCm39) E219V probably damaging Het
Gm14295 T C 2: 176,501,361 (GRCm39) Y284H possibly damaging Het
Gm45861 A G 8: 28,019,619 (GRCm39) T745A unknown Het
Grin2a G A 16: 9,579,639 (GRCm39) T208I possibly damaging Het
Ide T A 19: 37,255,409 (GRCm39) Y798F unknown Het
Llgl1 G A 11: 60,600,358 (GRCm39) G569D probably damaging Het
Mrpl9 G C 3: 94,351,097 (GRCm39) E92D probably benign Het
Muc16 T A 9: 18,555,685 (GRCm39) H3536L unknown Het
Nasp T C 4: 116,461,985 (GRCm39) Y526C probably damaging Het
Nfx1 A G 4: 40,986,728 (GRCm39) N404D probably damaging Het
Nsrp1 A G 11: 76,940,269 (GRCm39) I112T probably damaging Het
Or6c7 T C 10: 129,323,497 (GRCm39) L206P probably damaging Het
Or8b8 A T 9: 37,809,074 (GRCm39) I125F probably damaging Het
Oxsr1 A G 9: 119,093,948 (GRCm39) V235A probably damaging Het
Pamr1 C T 2: 102,471,293 (GRCm39) Q539* probably null Het
Pramel20 T A 4: 143,297,796 (GRCm39) V72D probably benign Het
Ptpn4 A G 1: 119,649,592 (GRCm39) probably null Het
Ranbp2 C T 10: 58,315,394 (GRCm39) A2038V probably benign Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Homo
Septin5 A G 16: 18,442,127 (GRCm39) V253A probably damaging Het
Skic3 T C 13: 76,291,359 (GRCm39) L993P probably damaging Het
Slc22a13 C A 9: 119,037,778 (GRCm39) E117* probably null Het
Slc9c1 T C 16: 45,398,194 (GRCm39) I653T probably benign Het
Slco6c1 T A 1: 97,053,445 (GRCm39) H152L possibly damaging Het
Sp2 A C 11: 96,852,372 (GRCm39) V184G probably benign Het
Taok1 T A 11: 77,444,599 (GRCm39) H492L probably benign Het
Tas2r110 G A 6: 132,845,490 (GRCm39) D174N probably benign Het
Trim24 G A 6: 37,896,426 (GRCm39) probably null Het
Ttn G A 2: 76,581,321 (GRCm39) R21445* probably null Het
Ttn A G 2: 76,605,967 (GRCm39) Y16502H probably damaging Het
Vmn2r84 A C 10: 130,226,737 (GRCm39) M367R possibly damaging Het
Zfp46 T C 4: 136,018,320 (GRCm39) S385P probably damaging Het
Other mutations in Gdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0557:Gdf2 UTSW 14 33,663,178 (GRCm39) missense probably damaging 1.00
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
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
(F):5'- TTTAGAAGTATCGAGTGCCGTG -3'
(R):5'- CCTCAAAGTTCACCCTGAGAG -3'

Sequencing Primer
(F):5'- TATCGAGTGCCGTGAAGCG -3'
(R):5'- AGTTCACCCTGAGAGAAGTCTTCTG -3'
Posted On 2018-03-15