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 33662996-33669155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33666788 bp (GRCm39)
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

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 0.0818 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
Abhd18 A C 3: 40,871,325 (GRCm39) T50P probably damaging Het
Adam5 T A 8: 25,300,850 (GRCm39) L226F possibly damaging Het
Adi1 T C 12: 28,725,544 (GRCm39) probably benign Het
Apc T C 18: 34,447,343 (GRCm39) V1379A probably benign Het
Atp13a4 G A 16: 29,275,428 (GRCm39) T352M probably damaging Het
Baat T A 4: 49,490,070 (GRCm39) N338I probably benign Het
Bdnf A G 2: 109,554,327 (GRCm39) T234A probably benign Het
Catsperd A C 17: 56,967,235 (GRCm39) T539P possibly damaging Het
Cd109 A T 9: 78,617,434 (GRCm39) T1311S probably benign Het
Ceacam18 T C 7: 43,286,536 (GRCm39) probably null Het
Cfap96 T C 8: 46,415,373 (GRCm39) E211G probably benign Het
Cfhr4 C T 1: 139,668,233 (GRCm39) C300Y probably damaging Het
Chsy3 T A 18: 59,543,318 (GRCm39) S819T probably damaging Het
Col4a4 G T 1: 82,431,614 (GRCm39) R1557S unknown Het
Ddx18 A G 1: 121,495,518 (GRCm39) probably null Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Fam13c C G 10: 70,276,893 (GRCm39) A17G probably benign Het
Fermt1 T C 2: 132,748,685 (GRCm39) Y646C probably damaging Het
Fra10ac1 A G 19: 38,188,110 (GRCm39) S229P probably benign Het
Gbp8 A T 5: 105,198,845 (GRCm39) H23Q probably benign Het
Gm15723 T C 10: 114,652,722 (GRCm39) noncoding transcript Het
Gm815 G A 19: 26,863,806 (GRCm39) V16I unknown Het
Ighv1-75 T A 12: 115,797,797 (GRCm39) K42* probably null Het
Isx A G 8: 75,619,473 (GRCm39) T222A probably benign Het
Itgax G A 7: 127,747,450 (GRCm39) D1018N probably damaging Het
Kcnc4 A G 3: 107,355,401 (GRCm39) F349S probably damaging Het
Lama3 A C 18: 12,598,565 (GRCm39) S991R probably damaging Het
Larp4b C T 13: 9,208,220 (GRCm39) A398V probably damaging Het
Ltbp1 A G 17: 75,670,357 (GRCm39) N1466S probably benign Het
Metrn A T 17: 26,015,514 (GRCm39) L67Q probably damaging Het
Morc1 G A 16: 48,451,132 (GRCm39) R937Q probably benign Het
Mta3 A G 17: 84,112,003 (GRCm39) Y577C probably damaging Het
Nalcn A G 14: 123,753,063 (GRCm39) F308L possibly damaging Het
Nat8 A T 6: 85,807,873 (GRCm39) S87T probably benign Het
Oplah A T 15: 76,185,410 (GRCm39) probably null Het
Or2ak6 A G 11: 58,592,778 (GRCm39) N84D probably benign Het
Or2ak6 A C 11: 58,592,779 (GRCm39) N84T possibly damaging Het
Or7e166 A G 9: 19,624,109 (GRCm39) probably null Het
Pcdh15 A T 10: 74,232,204 (GRCm39) I668L possibly damaging Het
Pecr A G 1: 72,316,444 (GRCm39) probably null Het
Plxna4 T C 6: 32,493,956 (GRCm39) E220G possibly damaging Het
Pnma8b A G 7: 16,679,199 (GRCm39) K61R unknown Het
Prl8a6 C T 13: 27,620,179 (GRCm39) W81* probably null Het
Rab33b C T 3: 51,392,033 (GRCm39) probably benign Het
Rbm33 T A 5: 28,557,772 (GRCm39) probably null Het
Relch A G 1: 105,649,101 (GRCm39) S747G probably benign Het
Reln C T 5: 22,308,395 (GRCm39) V325M possibly damaging Het
Rheb A C 5: 25,008,743 (GRCm39) D158E probably benign Het
Rhebl1 T A 15: 98,778,464 (GRCm39) probably benign Het
Rmdn2 T A 17: 79,975,446 (GRCm39) Y312N probably damaging Het
Scamp1 T G 13: 94,368,594 (GRCm39) N58T probably benign Het
Semp2l1 A T 1: 32,584,598 (GRCm39) C437* probably null Het
Slc35a1 C T 4: 34,683,322 (GRCm39) V53M probably benign Het
Slc35f3 A T 8: 127,115,872 (GRCm39) L266F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Ticrr T A 7: 79,344,471 (GRCm39) S1445R probably benign Het
Ttc23l T C 15: 10,515,236 (GRCm39) N381D probably damaging Het
Usp17ld T A 7: 102,899,781 (GRCm39) K384* probably null Het
Vmn1r20 T A 6: 57,409,050 (GRCm39) Y125* probably null Het
Zfp738 G T 13: 67,817,805 (GRCm39) Q729K probably benign Het
Zfp770 T A 2: 114,027,674 (GRCm39) M132L probably benign 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
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'- TCAGATGCTATATCGACAGCTG -3'
(R):5'- AACCTGGAGGGACACTGATG -3'

Sequencing Primer
(F):5'- TATATCGACAGCTGCCACGGAG -3'
(R):5'- ATGTCCAGTGTGTCACAGC -3'
Posted On 2016-07-06