Incidental Mutation 'R5259:Gdf2'
ID 401321
Institutional Source Beutler Lab
Gene Symbol Gdf2
Ensembl Gene ENSMUSG00000072625
Gene Name growth differentiation factor 2
Synonyms Bmp9
MMRRC Submission 042856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5259 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 33941039-33947198 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33944831 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 170 (V170A)
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 benign
Transcript: ENSMUST00000100720
AA Change: V170A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000098286
Gene: ENSMUSG00000072625
AA Change: V170A

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 0.0818 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik T C 8: 45,962,336 (GRCm38) E211G probably benign Het
2310035C23Rik A G 1: 105,721,376 (GRCm38) S747G probably benign Het
Abhd18 A C 3: 40,916,890 (GRCm38) T50P probably damaging Het
Adam5 T A 8: 24,810,834 (GRCm38) L226F possibly damaging Het
Adi1 T C 12: 28,675,545 (GRCm38) probably benign Het
Apc T C 18: 34,314,290 (GRCm38) V1379A probably benign Het
Atp13a4 G A 16: 29,456,610 (GRCm38) T352M probably damaging Het
Baat T A 4: 49,490,070 (GRCm38) N338I probably benign Het
Bdnf A G 2: 109,723,982 (GRCm38) T234A probably benign Het
Catsperd A C 17: 56,660,235 (GRCm38) T539P possibly damaging Het
Cd109 A T 9: 78,710,152 (GRCm38) T1311S probably benign Het
Ceacam18 T C 7: 43,637,112 (GRCm38) probably null Het
Chsy3 T A 18: 59,410,246 (GRCm38) S819T probably damaging Het
Col4a4 G T 1: 82,453,893 (GRCm38) R1557S unknown Het
Ddx18 A G 1: 121,567,789 (GRCm38) probably null Het
Depdc5 C T 5: 32,938,291 (GRCm38) P824L probably damaging Het
Fam13c C G 10: 70,441,063 (GRCm38) A17G probably benign Het
Fermt1 T C 2: 132,906,765 (GRCm38) Y646C probably damaging Het
Fra10ac1 A G 19: 38,199,662 (GRCm38) S229P probably benign Het
Gbp8 A T 5: 105,050,979 (GRCm38) H23Q probably benign Het
Gm15723 T C 10: 114,816,817 (GRCm38) noncoding transcript Het
Gm4788 C T 1: 139,740,495 (GRCm38) C300Y probably damaging Het
Gm5415 A T 1: 32,545,517 (GRCm38) C437* probably null Het
Gm815 G A 19: 26,886,406 (GRCm38) V16I unknown Het
Ighv1-75 T A 12: 115,834,177 (GRCm38) K42* probably null Het
Isx A G 8: 74,892,845 (GRCm38) T222A probably benign Het
Itgax G A 7: 128,148,278 (GRCm38) D1018N probably damaging Het
Kcnc4 A G 3: 107,448,085 (GRCm38) F349S probably damaging Het
Lama3 A C 18: 12,465,508 (GRCm38) S991R probably damaging Het
Larp4b C T 13: 9,158,184 (GRCm38) A398V probably damaging Het
Ltbp1 A G 17: 75,363,362 (GRCm38) N1466S probably benign Het
Metrn A T 17: 25,796,540 (GRCm38) L67Q probably damaging Het
Morc1 G A 16: 48,630,769 (GRCm38) R937Q probably benign Het
Mta3 A G 17: 83,804,574 (GRCm38) Y577C probably damaging Het
Nalcn A G 14: 123,515,651 (GRCm38) F308L possibly damaging Het
Nat8 A T 6: 85,830,891 (GRCm38) S87T probably benign Het
Olfr319 A G 11: 58,701,952 (GRCm38) N84D probably benign Het
Olfr319 A C 11: 58,701,953 (GRCm38) N84T possibly damaging Het
Olfr857 A G 9: 19,712,813 (GRCm38) probably null Het
Oplah A T 15: 76,301,210 (GRCm38) probably null Het
Pcdh15 A T 10: 74,396,372 (GRCm38) I668L possibly damaging Het
Pecr A G 1: 72,277,285 (GRCm38) probably null Het
Plxna4 T C 6: 32,517,021 (GRCm38) E220G possibly damaging Het
Pnmal2 A G 7: 16,945,274 (GRCm38) K61R unknown Het
Prl8a6 C T 13: 27,436,196 (GRCm38) W81* probably null Het
Rab33b C T 3: 51,484,612 (GRCm38) probably benign Het
Rbm33 T A 5: 28,352,774 (GRCm38) probably null Het
Reln C T 5: 22,103,397 (GRCm38) V325M possibly damaging Het
Rheb A C 5: 24,803,745 (GRCm38) D158E probably benign Het
Rhebl1 T A 15: 98,880,583 (GRCm38) probably benign Het
Rmdn2 T A 17: 79,668,017 (GRCm38) Y312N probably damaging Het
Scamp1 T G 13: 94,232,086 (GRCm38) N58T probably benign Het
Slc35a1 C T 4: 34,683,322 (GRCm38) V53M probably benign Het
Slc35f3 A T 8: 126,389,133 (GRCm38) L266F probably damaging Het
Slc45a2 C T 15: 11,027,785 (GRCm38) T480I probably damaging Het
Ticrr T A 7: 79,694,723 (GRCm38) S1445R probably benign Het
Ttc23l T C 15: 10,515,150 (GRCm38) N381D probably damaging Het
Usp17ld T A 7: 103,250,574 (GRCm38) K384* probably null Het
Vmn1r20 T A 6: 57,432,065 (GRCm38) Y125* probably null Het
Zfp738 G T 13: 67,669,686 (GRCm38) Q729K probably benign Het
Zfp770 T A 2: 114,197,193 (GRCm38) M132L probably benign Het
Other mutations in Gdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0557:Gdf2 UTSW 14 33,941,221 (GRCm38) missense probably damaging 1.00
R0631:Gdf2 UTSW 14 33,941,221 (GRCm38) missense probably damaging 1.00
R0739:Gdf2 UTSW 14 33,941,221 (GRCm38) missense probably damaging 1.00
R2142:Gdf2 UTSW 14 33,945,241 (GRCm38) missense probably benign
R2292:Gdf2 UTSW 14 33,945,188 (GRCm38) missense possibly damaging 0.60
R3615:Gdf2 UTSW 14 33,944,957 (GRCm38) missense probably damaging 1.00
R3616:Gdf2 UTSW 14 33,944,957 (GRCm38) missense probably damaging 1.00
R3974:Gdf2 UTSW 14 33,944,834 (GRCm38) missense probably damaging 0.97
R3975:Gdf2 UTSW 14 33,944,834 (GRCm38) missense probably damaging 0.97
R3976:Gdf2 UTSW 14 33,944,834 (GRCm38) missense probably damaging 0.97
R4665:Gdf2 UTSW 14 33,945,451 (GRCm38) missense probably damaging 1.00
R5007:Gdf2 UTSW 14 33,944,906 (GRCm38) missense probably benign 0.02
R5227:Gdf2 UTSW 14 33,941,494 (GRCm38) critical splice donor site probably null
R5253:Gdf2 UTSW 14 33,945,307 (GRCm38) missense probably benign 0.14
R6286:Gdf2 UTSW 14 33,945,100 (GRCm38) missense probably damaging 1.00
R7644:Gdf2 UTSW 14 33,944,890 (GRCm38) missense probably benign 0.00
R8472:Gdf2 UTSW 14 33,944,840 (GRCm38) missense probably damaging 1.00
R9067:Gdf2 UTSW 14 33,941,454 (GRCm38) missense probably benign 0.20
R9525:Gdf2 UTSW 14 33,945,607 (GRCm38) makesense probably null
Z1177:Gdf2 UTSW 14 33,945,317 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06