Incidental Mutation 'R2899:Gdf7'
ID 261420
Institutional Source Beutler Lab
Gene Symbol Gdf7
Ensembl Gene ENSMUSG00000037660
Gene Name growth differentiation factor 7
Synonyms BMP12
MMRRC Submission 040487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R2899 (G1)
Quality Score 198
Status Validated
Chromosome 12
Chromosomal Location 8347918-8351954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8348470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 276 (A276T)
Ref Sequence ENSEMBL: ENSMUSP00000151234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037313] [ENSMUST00000220073]
AlphaFold P43029
Predicted Effect unknown
Transcript: ENSMUST00000037313
AA Change: A284T
SMART Domains Protein: ENSMUSP00000038301
Gene: ENSMUSG00000037660
AA Change: A284T

signal peptide 1 22 N/A INTRINSIC
Pfam:TGFb_propeptide 49 275 2.3e-15 PFAM
low complexity region 281 302 N/A INTRINSIC
low complexity region 308 357 N/A INTRINSIC
TGFB 360 461 1.14e-63 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217967
Predicted Effect unknown
Transcript: ENSMUST00000220073
AA Change: A276T
Meta Mutation Damage Score 0.2465 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (30/31)
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 may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele lack D1A neurons in the dorsal spinal cord; some develop severe hydrocephaly with dilated ventricles and late-onset brain defects. Mice homozygous for another null allele show premature death, hydrocephaly, aberrant seminal vesicle development and male sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,443 (GRCm39) K211E probably benign Het
Amigo3 T C 9: 107,931,353 (GRCm39) S259P probably benign Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cd200r4 T C 16: 44,653,728 (GRCm39) I175T probably damaging Het
Cep131 T C 11: 119,962,854 (GRCm39) D425G probably benign Het
Clmp T C 9: 40,693,688 (GRCm39) S302P probably damaging Het
Dusp6 T C 10: 99,099,707 (GRCm39) S52P probably damaging Het
Epha5 T A 5: 84,381,667 (GRCm39) I395F probably damaging Het
F5 A G 1: 164,014,469 (GRCm39) E580G possibly damaging Het
Fbxo3 T A 2: 103,881,480 (GRCm39) Y271N probably damaging Het
Fuca1 G A 4: 135,650,323 (GRCm39) W131* probably null Het
Limk1 A T 5: 134,717,154 (GRCm39) probably null Het
Lrrc37a G A 11: 103,388,690 (GRCm39) T2245I unknown Het
Neb A G 2: 52,075,335 (GRCm39) I210T probably benign Het
Nf1 T G 11: 79,303,584 (GRCm39) N420K possibly damaging Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Pask G T 1: 93,262,269 (GRCm39) T197K probably damaging Het
Potefam1 C A 2: 111,051,015 (GRCm39) probably benign Het
Pou4f3 T C 18: 42,528,588 (GRCm39) L177P probably benign Het
Rassf1 G A 9: 107,431,393 (GRCm39) G107R probably null Het
Rdx T C 9: 51,980,211 (GRCm39) probably benign Het
Saraf T C 8: 34,628,385 (GRCm39) L77P probably damaging Het
Syngap1 A G 17: 27,178,959 (GRCm39) E483G probably damaging Het
Tsku T C 7: 98,002,124 (GRCm39) N69S probably damaging Het
Usp36 G A 11: 118,167,582 (GRCm39) probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zc3h6 T C 2: 128,844,152 (GRCm39) V232A probably benign Het
Zfp143 T A 7: 109,671,336 (GRCm39) S99R probably damaging Het
Zkscan3 A T 13: 21,578,143 (GRCm39) L219Q probably damaging Het
Other mutations in Gdf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02796:Gdf7 UTSW 12 8,351,666 (GRCm39) missense unknown
R0781:Gdf7 UTSW 12 8,351,555 (GRCm39) splice site probably benign
R1457:Gdf7 UTSW 12 8,348,073 (GRCm39) missense probably damaging 0.97
R1556:Gdf7 UTSW 12 8,351,698 (GRCm39) missense unknown
R1643:Gdf7 UTSW 12 8,347,971 (GRCm39) missense probably damaging 1.00
R2010:Gdf7 UTSW 12 8,351,729 (GRCm39) missense unknown
R2439:Gdf7 UTSW 12 8,348,050 (GRCm39) missense probably damaging 1.00
R3894:Gdf7 UTSW 12 8,348,845 (GRCm39) missense unknown
R4854:Gdf7 UTSW 12 8,348,014 (GRCm39) missense probably damaging 0.99
R5207:Gdf7 UTSW 12 8,348,371 (GRCm39) missense unknown
R6199:Gdf7 UTSW 12 8,348,832 (GRCm39) missense unknown
R6583:Gdf7 UTSW 12 8,351,758 (GRCm39) missense unknown
R7687:Gdf7 UTSW 12 8,348,257 (GRCm39) nonsense probably null
R7745:Gdf7 UTSW 12 8,351,854 (GRCm39) missense unknown
R8705:Gdf7 UTSW 12 8,348,167 (GRCm39) missense probably damaging 0.96
R8845:Gdf7 UTSW 12 8,348,905 (GRCm39) missense unknown
R9100:Gdf7 UTSW 12 8,348,652 (GRCm39) missense unknown
Z1176:Gdf7 UTSW 12 8,348,578 (GRCm39) missense unknown
Z1176:Gdf7 UTSW 12 8,348,409 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-01-23