Incidental Mutation 'R0739:Gdf2'
ID 70640
Institutional Source Beutler Lab
Gene Symbol Gdf2
Ensembl Gene ENSMUSG00000072625
Gene Name growth differentiation factor 2
Synonyms Bmp9
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0739 (G1)
Quality Score 216
Status 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

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
Predicted Effect probably benign
Transcript: ENSMUST00000168727
SMART Domains Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S 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
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
(F):5'- ATAAGAGGTCCGAGCAGAGCATCC -3'
(R):5'- ACTATACCTTCCACGCTGAAGCTCC -3'

Sequencing Primer
(F):5'- CCGTGAGACAGCCAAAGTC -3'
(R):5'- TACAAGTCGATCATGTACTGGG -3'
Posted On 2013-09-30