Incidental Mutation 'R5893:Gdf15'
ID 457301
Institutional Source Beutler Lab
Gene Symbol Gdf15
Ensembl Gene ENSMUSG00000038508
Gene Name growth differentiation factor 15
Synonyms MIC-1, macrophage inhibiting cytokine-1, NAG-1
MMRRC Submission 044094-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5893 (G1)
Quality Score 210
Status Validated
Chromosome 8
Chromosomal Location 71082043-71085106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71082473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 211 (V211E)
Ref Sequence ENSEMBL: ENSMUSP00000105730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003808] [ENSMUST00000110103]
AlphaFold Q9Z0J7
Predicted Effect possibly damaging
Transcript: ENSMUST00000003808
AA Change: V211E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003808
Gene: ENSMUSG00000038508
AA Change: V211E

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
low complexity region 143 166 N/A INTRINSIC
low complexity region 177 195 N/A INTRINSIC
TGFB 206 303 2.81e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110103
AA Change: V211E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105730
Gene: ENSMUSG00000038508
AA Change: V211E

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
low complexity region 143 166 N/A INTRINSIC
low complexity region 177 195 N/A INTRINSIC
TGFB 206 303 2.81e-22 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 95% (73/77)
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. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. Mice lacking a functional copy of this gene exhibit progressive loss of motor neurons, and more rapid blood clot formation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice showed no obvious major abnormalities, but exhibit progressive postnatal losses of spinal, facial, and trigeminal motoneurons, accelerated thrombus formation following injury, and decreased bleeding times. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 C T 4: 144,429,766 (GRCm39) V408I probably benign Het
Ablim1 T A 19: 57,204,285 (GRCm39) R35S probably benign Het
Acacb A T 5: 114,367,912 (GRCm39) I1637F probably benign Het
Adamts18 A T 8: 114,499,709 (GRCm39) C402S probably damaging Het
Adra2b T A 2: 127,206,402 (GRCm39) D306E probably benign Het
Ammecr1l C T 18: 31,911,973 (GRCm39) T263I probably damaging Het
Antxr1 T C 6: 87,114,241 (GRCm39) I509V probably benign Het
Bahcc1 A G 11: 120,176,256 (GRCm39) E1967G probably damaging Het
Brap T A 5: 121,817,405 (GRCm39) Y337* probably null Het
Brca2 T C 5: 150,492,603 (GRCm39) V3206A probably benign Het
Cacna1e A T 1: 154,313,069 (GRCm39) F1486I probably damaging Het
Cbx4 A G 11: 118,973,016 (GRCm39) Y120H probably damaging Het
Ccar2 T A 14: 70,388,800 (GRCm39) Q137L probably benign Het
Ceacam12 A G 7: 17,803,299 (GRCm39) D235G probably damaging Het
Celsr1 A G 15: 85,788,215 (GRCm39) V2679A probably benign Het
Champ1 C T 8: 13,928,777 (GRCm39) P312S probably benign Het
Chst5 A G 8: 112,616,828 (GRCm39) L264S probably damaging Het
Cip2a A G 16: 48,817,863 (GRCm39) S78G probably benign Het
Colec10 T A 15: 54,274,185 (GRCm39) F4L probably benign Het
Cyp2a4 G A 7: 26,008,353 (GRCm39) G165D probably damaging Het
Cyp2c29 G C 19: 39,318,833 (GRCm39) A438P possibly damaging Het
Dlat A G 9: 50,555,439 (GRCm39) probably benign Het
Dmxl2 A G 9: 54,294,704 (GRCm39) V2457A possibly damaging Het
Dnah7a A G 1: 53,496,944 (GRCm39) M3104T possibly damaging Het
Dock8 C T 19: 25,099,811 (GRCm39) H645Y probably damaging Het
Ehbp1l1 T C 19: 5,768,459 (GRCm39) E948G probably benign Het
Eps8l2 C T 7: 140,937,537 (GRCm39) R384C probably damaging Het
Fam174a A T 1: 95,252,884 (GRCm39) N162I probably damaging Het
Fbp2 T A 13: 62,984,916 (GRCm39) N335I probably benign Het
Foxred2 C A 15: 77,831,344 (GRCm39) G490C probably damaging Het
Fyttd1 T G 16: 32,719,283 (GRCm39) D200E probably damaging Het
Gm6214 A G 3: 140,545,107 (GRCm39) noncoding transcript Het
Havcr2 A G 11: 46,347,143 (GRCm39) Y40C probably damaging Het
Htra1 T G 7: 130,563,321 (GRCm39) V184G probably damaging Het
Hydin A T 8: 111,217,308 (GRCm39) I1399F probably benign Het
Igtp T C 11: 58,097,474 (GRCm39) L215P probably damaging Het
Kctd1 T C 18: 15,102,745 (GRCm39) E812G possibly damaging Het
Lap3 T C 5: 45,668,621 (GRCm39) probably benign Het
Lgalsl2 A T 7: 5,362,623 (GRCm39) T85S probably benign Het
Lrp1b C A 2: 40,491,599 (GRCm39) A223S probably damaging Het
Mtnr1b A T 9: 15,774,540 (GRCm39) V173E probably damaging Het
Nat10 A C 2: 103,552,184 (GRCm39) probably benign Het
Ndfip2 T A 14: 105,532,291 (GRCm39) V229E probably damaging Het
Nefh G A 11: 4,891,323 (GRCm39) T432M probably damaging Het
Nfe2l3 A G 6: 51,434,832 (GRCm39) Y464C probably damaging Het
Nrip1 C A 16: 76,090,841 (GRCm39) A239S probably damaging Het
Olfml2b A G 1: 170,490,042 (GRCm39) S221G probably benign Het
Orc4 G T 2: 48,795,559 (GRCm39) S389* probably null Het
P4hb A G 11: 120,462,476 (GRCm39) S77P probably damaging Het
Pcyt2 T C 11: 120,508,623 (GRCm39) probably null Het
Plagl1 T C 10: 13,003,938 (GRCm39) probably benign Het
Poglut1 C T 16: 38,349,957 (GRCm39) R272Q probably damaging Het
Pramel26 T A 4: 143,537,038 (GRCm39) Y431F probably damaging Het
Rdh5 T C 10: 128,750,090 (GRCm39) probably null Het
Rogdi A T 16: 4,831,258 (GRCm39) L3* probably null Het
Skap1 T C 11: 96,472,224 (GRCm39) *166Q probably null Het
Slc38a4 A G 15: 96,897,432 (GRCm39) I461T probably benign Het
Snx31 A C 15: 36,523,601 (GRCm39) I360M probably damaging Het
Spata22 A T 11: 73,227,073 (GRCm39) K96* probably null Het
Strn3 A T 12: 51,690,006 (GRCm39) probably null Het
Trip12 A C 1: 84,736,884 (GRCm39) probably benign Het
Uggt1 A T 1: 36,266,709 (GRCm39) probably null Het
Upk3a A C 15: 84,903,538 (GRCm39) D79A probably damaging Het
Uts2r A T 11: 121,052,105 (GRCm39) Y323F probably benign Het
Vmn2r1 A T 3: 63,993,974 (GRCm39) N107Y probably damaging Het
Vps13c A T 9: 67,810,121 (GRCm39) probably null Het
Wnt7b A G 15: 85,465,575 (GRCm39) probably benign Het
Zfp410 T A 12: 84,384,385 (GRCm39) probably null Het
Other mutations in Gdf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0090:Gdf15 UTSW 8 71,082,334 (GRCm39) missense probably damaging 1.00
R1183:Gdf15 UTSW 8 71,084,202 (GRCm39) missense probably benign 0.18
R4049:Gdf15 UTSW 8 71,082,605 (GRCm39) missense probably benign
R4820:Gdf15 UTSW 8 71,082,246 (GRCm39) missense probably damaging 1.00
R6941:Gdf15 UTSW 8 71,082,794 (GRCm39) missense possibly damaging 0.93
R7161:Gdf15 UTSW 8 71,083,992 (GRCm39) missense possibly damaging 0.93
R7690:Gdf15 UTSW 8 71,083,997 (GRCm39) missense possibly damaging 0.68
X0066:Gdf15 UTSW 8 71,082,275 (GRCm39) missense possibly damaging 0.95
Z1176:Gdf15 UTSW 8 71,082,540 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGTGCATAAGAACCACCGG -3'
(R):5'- ACATCACTAGGCCCCTGAAG -3'

Sequencing Primer
(F):5'- ACCGGGGTGTAGCTGGAG -3'
(R):5'- TAGGCCCCTGAAGCGTGC -3'
Posted On 2017-02-15