Incidental Mutation 'R2568:Gdf5'
ID 254610
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 040427-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R2568 (G1)
Quality Score 84
Status Not validated
Chromosome 2
Chromosomal Location 155782943-155787204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 155784010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 100 (R100G)
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: R314P

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048079
Gene: ENSMUSG00000038259
AA Change: R314P

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: R100G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105257
Gene: ENSMUSG00000078972
AA Change: R100G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 89 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,161 (GRCm39) probably benign Het
Abca13 A T 11: 9,283,310 (GRCm39) N3244I probably benign Het
Adgrf5 A G 17: 43,748,562 (GRCm39) T219A probably damaging Het
Adgrg5 A T 8: 95,660,649 (GRCm39) N92I probably damaging Het
Agt A C 8: 125,283,694 (GRCm39) V475G probably damaging Het
Akap6 A G 12: 52,934,061 (GRCm39) K518E possibly damaging Het
Apoh T G 11: 108,295,697 (GRCm39) D133E probably benign Het
Axdnd1 T A 1: 156,220,319 (GRCm39) M234L possibly damaging Het
Cacna1d A G 14: 29,804,468 (GRCm39) I1335T probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap206 T A 4: 34,711,566 (GRCm39) K444* probably null Het
Clasp2 A G 9: 113,707,832 (GRCm39) I614M probably benign Het
Col6a4 A T 9: 105,940,275 (GRCm39) D1218E possibly damaging Het
Cplane1 T C 15: 8,230,753 (GRCm39) V1010A possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
D130043K22Rik C T 13: 25,067,874 (GRCm39) T870M probably damaging Het
Dagla C A 19: 10,225,516 (GRCm39) A883S probably benign Het
Dhx30 A G 9: 109,926,263 (GRCm39) V87A probably damaging Het
Dtx1 C A 5: 120,848,249 (GRCm39) V44L possibly damaging Het
Ecm2 T A 13: 49,683,605 (GRCm39) S528T possibly damaging Het
Eeig2 T A 3: 108,886,164 (GRCm39) N356I probably benign Het
Egfem1 A T 3: 29,637,080 (GRCm39) N172I probably damaging Het
Fam13a T G 6: 58,912,594 (GRCm39) R686S probably damaging Het
Fam243 A G 16: 92,118,207 (GRCm39) L27P probably damaging Het
Fmo1 T A 1: 162,663,828 (GRCm39) I234L probably benign Het
Foxj2 C T 6: 122,805,331 (GRCm39) R68W probably damaging Het
Foxo6 A T 4: 120,125,961 (GRCm39) M278K probably benign Het
Fsip2 A G 2: 82,820,775 (GRCm39) S5503G probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Klhl29 A G 12: 5,141,350 (GRCm39) S545P probably damaging Het
Krt87 G T 15: 101,385,708 (GRCm39) R296S possibly damaging Het
Llgl1 T G 11: 60,599,638 (GRCm39) S509R probably damaging Het
Lmod1 A T 1: 135,291,702 (GRCm39) K186* probably null Het
Lrpprc C T 17: 85,034,077 (GRCm39) A973T probably damaging Het
Marco T C 1: 120,422,514 (GRCm39) H49R possibly damaging Het
Mylk4 T C 13: 32,906,001 (GRCm39) N394S probably null Het
Myo5a A G 9: 75,030,322 (GRCm39) Y147C probably damaging Het
Myo5a T C 9: 75,059,179 (GRCm39) V469A probably damaging Het
Myot A G 18: 44,470,283 (GRCm39) T87A probably benign Het
Nav2 A G 7: 49,247,312 (GRCm39) H2154R probably damaging Het
Nek10 A G 14: 14,999,112 (GRCm38) E1037G possibly damaging Het
Or1j13 T C 2: 36,369,986 (GRCm39) D52G probably damaging Het
Or52e4 A G 7: 104,705,878 (GRCm39) T142A probably benign Het
Or5k17 A G 16: 58,746,286 (GRCm39) V216A probably benign Het
Pitrm1 G T 13: 6,625,128 (GRCm39) V869F probably benign Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,976,940 (GRCm39) probably benign Het
Prdx1 T G 4: 116,550,997 (GRCm39) I156S probably benign Het
Rbks T A 5: 31,823,096 (GRCm39) T107S probably damaging Het
Ryr3 G A 2: 112,506,219 (GRCm39) R3468W probably damaging Het
Scn1a C T 2: 66,103,813 (GRCm39) D1805N probably damaging Het
Sirpa T C 2: 129,457,568 (GRCm39) V214A probably benign Het
Slc35c1 T C 2: 92,289,225 (GRCm39) N94D probably benign Het
Sorbs2 A T 8: 46,248,407 (GRCm39) K553* probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thg1l A G 11: 45,842,392 (GRCm39) V142A probably benign Het
Tiparp T A 3: 65,460,551 (GRCm39) Y513* probably null Het
Tmc6 A G 11: 117,663,646 (GRCm39) V522A probably benign Het
Trim39 T A 17: 36,580,056 (GRCm39) probably benign Het
Trrap G A 5: 144,780,179 (GRCm39) probably null Het
Tulp3 C T 6: 128,304,601 (GRCm39) V218I probably benign Het
Vmn1r38 T A 6: 66,753,955 (GRCm39) I54F probably benign Het
Vmn2r23 T A 6: 123,719,147 (GRCm39) Y833* probably null Het
Zfp810 A T 9: 22,190,534 (GRCm39) S125T 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
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
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'- CCGCTGGCTGAACAAATATTC -3'
(R):5'- TTACGGAAGAAGCCCTTGG -3'

Sequencing Primer
(F):5'- GCTGGCTGAACAAATATTCATACAC -3'
(R):5'- GTTGCCCAACTGAAGCTGTC -3'
Posted On 2014-12-04