Incidental Mutation 'R9282:Gdf5'
ID 703678
Institutional Source Beutler Lab
Gene Symbol Gdf5
Ensembl Gene ENSMUSG00000038259
Gene Name growth differentiation factor 5
Synonyms cartilage-derived morphogenetic protein-1, CDMP-1, brp, bp
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R9282 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155782943-155787204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 155783915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 346 (D346H)
Ref Sequence ENSEMBL: ENSMUSP00000048079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040162] [ENSMUST00000109629]
AlphaFold P43027
Predicted Effect probably damaging
Transcript: ENSMUST00000040162
AA Change: D346H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048079
Gene: ENSMUSG00000038259
AA Change: D346H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:TGFb_propeptide 133 343 2.4e-16 PFAM
TGFB 394 495 8.92e-66 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109629
AA Change: S68C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105257
Gene: ENSMUSG00000078972
AA Change: S68C

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 89 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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 the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mice with a mutation in this gene exhibit enhanced tooth enamel formation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp G A 16: 56,440,867 (GRCm39) V701M unknown Het
Adam2 G A 14: 66,267,238 (GRCm39) P674S probably benign Het
Adam24 T A 8: 41,133,674 (GRCm39) Y381N probably damaging Het
Adgrv1 A G 13: 81,251,491 (GRCm39) S6209P probably damaging Het
Aox4 A T 1: 58,285,028 (GRCm39) K593N possibly damaging Het
Aqp3 A G 4: 41,093,640 (GRCm39) V258A possibly damaging Het
Atg16l1 T A 1: 87,707,906 (GRCm39) F390I possibly damaging Het
B4galt6 T A 18: 20,825,509 (GRCm39) Y239F possibly damaging Het
Cmtr2 T C 8: 110,948,977 (GRCm39) M429T probably benign Het
Col5a2 C G 1: 45,478,029 (GRCm39) probably null Het
Dcc T C 18: 71,815,249 (GRCm39) D375G possibly damaging Het
Dnah14 T C 1: 181,642,077 (GRCm39) Y31H Het
Fam131a G A 16: 20,520,243 (GRCm39) R232H possibly damaging Het
Fam186a A G 15: 99,839,879 (GRCm39) Y2122H probably damaging Het
Focad A T 4: 88,115,059 (GRCm39) I421F unknown Het
Fscb T G 12: 64,520,097 (GRCm39) E456D possibly damaging Het
Furin C A 7: 80,040,846 (GRCm39) S664I probably benign Het
Ganc A G 2: 120,290,381 (GRCm39) E906G probably benign Het
Golga4 T C 9: 118,385,893 (GRCm39) L1005P probably damaging Het
Ifit1bl1 T C 19: 34,571,908 (GRCm39) N183S probably benign Het
Itpr1 T A 6: 108,370,984 (GRCm39) F1084I probably damaging Het
Katnal1 A T 5: 148,831,021 (GRCm39) Y184* probably null Het
Lrrc37a A G 11: 103,391,633 (GRCm39) I1264T probably benign Het
Map3k2 T A 18: 32,342,805 (GRCm39) M234K probably damaging Het
Mcm3ap T A 10: 76,342,352 (GRCm39) V1615E probably damaging Het
Mkrn2 A G 6: 115,591,534 (GRCm39) probably null Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nradd T A 9: 110,450,751 (GRCm39) Q142L possibly damaging Het
Ophn1 G A X: 97,622,145 (GRCm39) T668M probably benign Het
Or56b35 T C 7: 104,963,781 (GRCm39) I190T probably benign Het
Pdzd7 A G 19: 45,028,622 (GRCm39) F174L probably damaging Het
Pi4k2b C T 5: 52,900,879 (GRCm39) T99I probably benign Het
Pigv A T 4: 133,391,973 (GRCm39) V399D probably damaging Het
Pla2g4a C A 1: 149,747,207 (GRCm39) L326F probably damaging Het
Psmg1 T C 16: 95,790,717 (GRCm39) I73M probably damaging Het
Rcl1 T C 19: 29,093,170 (GRCm39) S62P probably damaging Het
Slc23a4 T A 6: 34,955,861 (GRCm39) I58F probably damaging Het
Slc36a2 G T 11: 55,060,837 (GRCm39) T191K probably benign Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tbc1d30 T C 10: 121,142,128 (GRCm39) probably null Het
Tbc1d4 A G 14: 101,845,616 (GRCm39) V94A possibly damaging Het
Tdrd5 T C 1: 156,105,030 (GRCm39) Y532C probably benign Het
Tll2 T A 19: 41,074,772 (GRCm39) I931L probably benign Het
Tlr3 T C 8: 45,851,643 (GRCm39) N418S probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tshr T A 12: 91,474,518 (GRCm39) M164K possibly damaging Het
Ttc21b A G 2: 66,056,349 (GRCm39) V679A possibly damaging Het
Ttn A G 2: 76,730,861 (GRCm39) Y4951H unknown Het
Usf1 T A 1: 171,243,373 (GRCm39) V50D possibly damaging Het
Utp6 A T 11: 79,826,851 (GRCm39) M575K probably benign Het
Vmn1r197 A T 13: 22,512,608 (GRCm39) R176S possibly damaging Het
Vmn2r104 A T 17: 20,261,098 (GRCm39) F442I probably damaging Het
Vmn2r94 A G 17: 18,497,751 (GRCm39) F7S possibly damaging Het
Vps41 G T 13: 19,013,401 (GRCm39) E340* probably null Het
Other mutations in Gdf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Gdf5 APN 2 155,783,626 (GRCm39) missense probably damaging 1.00
R1900:Gdf5 UTSW 2 155,784,001 (GRCm39) missense probably damaging 1.00
R1962:Gdf5 UTSW 2 155,783,672 (GRCm39) missense probably damaging 1.00
R2568:Gdf5 UTSW 2 155,784,010 (GRCm39) missense probably benign 0.06
R4556:Gdf5 UTSW 2 155,783,782 (GRCm39) missense probably benign
R7038:Gdf5 UTSW 2 155,786,655 (GRCm39) missense probably damaging 0.99
R7990:Gdf5 UTSW 2 155,783,749 (GRCm39) missense probably damaging 1.00
R8406:Gdf5 UTSW 2 155,784,272 (GRCm39) missense probably damaging 1.00
Z1177:Gdf5 UTSW 2 155,783,992 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AGGCCTCATACTCAAGAGGTGC -3'
(R):5'- GTTCGACATCTGGAAGCTCTTC -3'

Sequencing Primer
(F):5'- CTCATACTCAAGAGGTGCGATGATC -3'
(R):5'- CTTCCGAAATTTTAAGAACTCAGCGC -3'
Posted On 2022-03-25