Incidental Mutation 'R4556:Gdf5'
ID 341858
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 041597-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R4556 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155782943-155787204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155783782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 24 (R24G)
Ref Sequence ENSEMBL: ENSMUSP00000105257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040162] [ENSMUST00000109629]
AlphaFold P43027
Predicted Effect probably benign
Transcript: ENSMUST00000040162
AA Change: L390P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048079
Gene: ENSMUSG00000038259
AA Change: L390P

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 probably benign
Transcript: ENSMUST00000109629
AA Change: R24G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105257
Gene: ENSMUSG00000078972
AA Change: R24G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 89 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,667,937 (GRCm39) probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Cdk5rap2 A G 4: 70,157,549 (GRCm39) S1601P probably damaging Het
Erc2 A C 14: 28,024,861 (GRCm39) D580A probably damaging Het
Fbxo4 A G 15: 3,995,187 (GRCm39) *386R probably null Het
Fbxo42 T A 4: 140,926,321 (GRCm39) H334Q probably damaging Het
Lama3 G T 18: 12,612,816 (GRCm39) R1200L possibly damaging Het
Lxn T A 3: 67,365,953 (GRCm39) I182F possibly damaging Het
Mbd5 G A 2: 49,169,406 (GRCm39) G1526R probably damaging Het
Mcub G A 3: 129,709,384 (GRCm39) Q310* probably null Het
Ndufaf7 T C 17: 79,249,516 (GRCm39) S138P probably benign Het
Nktr A G 9: 121,570,189 (GRCm39) T90A probably damaging Het
Nr1h5 G A 3: 102,853,457 (GRCm39) A350V probably benign Het
Or1e29 G A 11: 73,667,307 (GRCm39) T282I possibly damaging Het
Or7e174 T C 9: 20,012,619 (GRCm39) L188P possibly damaging Het
Pros1 A G 16: 62,721,036 (GRCm39) K197R possibly damaging Het
Rmnd5b G T 11: 51,517,732 (GRCm39) probably null Het
Rnf25 A T 1: 74,638,264 (GRCm39) I26N probably damaging Het
Scn4a T C 11: 106,211,272 (GRCm39) I1582V probably benign Het
Sh2d3c A G 2: 32,643,021 (GRCm39) T583A possibly damaging Het
Sh3tc1 T C 5: 35,864,426 (GRCm39) Y587C probably damaging Het
Slc6a11 A G 6: 114,221,773 (GRCm39) S488G probably benign Het
Smim22 T A 16: 4,825,730 (GRCm39) F38L possibly damaging Het
Stab2 T G 10: 86,803,543 (GRCm39) E335D possibly damaging Het
Tas2r102 T C 6: 132,739,878 (GRCm39) F262S probably damaging Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmem225 T C 9: 40,060,762 (GRCm39) F107S probably damaging Het
Vmn1r229 T A 17: 21,034,953 (GRCm39) V66E possibly damaging Het
Vmn1r27 A G 6: 58,192,804 (GRCm39) S67P possibly damaging Het
Xrcc4 A T 13: 90,140,623 (GRCm39) H195Q probably benign 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
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
R9282:Gdf5 UTSW 2 155,783,915 (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'- TAATAGGACTCAGCCGTGTAGG -3'
(R):5'- CGAGAAAGCCTTGTTCCTAGTG -3'

Sequencing Primer
(F):5'- CAGGGTCCATAGAGTTCATTAGG -3'
(R):5'- AGAAAGCCTTGTTCCTAGTGTTTGG -3'
Posted On 2015-09-24