Incidental Mutation 'R8374:Gdnf'
ID 646594
Institutional Source Beutler Lab
Gene Symbol Gdnf
Ensembl Gene ENSMUSG00000022144
Gene Name glial cell line derived neurotrophic factor
Synonyms glial cell line-derived neurotrophic factor
MMRRC Submission 067742-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R8374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 7840327-7867056 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7864176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 196 (R196G)
Ref Sequence ENSEMBL: ENSMUSP00000022744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022744]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022744
AA Change: R196G

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022744
Gene: ENSMUSG00000022144
AA Change: R196G

DomainStartEndE-ValueType
low complexity region 133 146 N/A INTRINSIC
TGFB 147 240 4.36e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Homozygous knockout mice for this gene exhibit defects in kidney development and neonatal death. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to lack of ureteric bud induction, bilateral renal agenesis, absence of enteric neurons, and neonatal death. Heterozygotes show renal phenotypes ranging from two small kidneys, often with abnormal shapes and cortical cysts, to unilateral renal agenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,814,002 (GRCm39) G721E probably benign Het
Aip A T 19: 4,165,456 (GRCm39) M170K probably damaging Het
Alms1 T C 6: 85,585,973 (GRCm39) I276T probably benign Het
Arid1b C T 17: 5,392,919 (GRCm39) P2097S possibly damaging Het
Astn1 T G 1: 158,329,803 (GRCm39) N219K probably damaging Het
Cbx2 G T 11: 118,918,969 (GRCm39) R178L probably damaging Het
Clptm1 G A 7: 19,372,081 (GRCm39) P252S probably benign Het
Crebbp A G 16: 3,902,175 (GRCm39) S2355P probably damaging Het
D130043K22Rik C A 13: 25,041,962 (GRCm39) T297K probably benign Het
Ddx60 A G 8: 62,427,205 (GRCm39) D760G probably benign Het
Dgka T C 10: 128,557,112 (GRCm39) N621S probably benign Het
Ear10 A T 14: 44,160,645 (GRCm39) C61S probably damaging Het
F12 A T 13: 55,569,144 (GRCm39) C238S probably damaging Het
Fen1 A G 19: 10,177,824 (GRCm39) F207L probably benign Het
Fzr1 A G 10: 81,203,368 (GRCm39) L486P probably damaging Het
Gldc A C 19: 30,114,594 (GRCm39) F439V probably damaging Het
Gm3138 T C 14: 4,251,688 (GRCm38) M120T probably damaging Het
Gpi1 G A 7: 33,920,082 (GRCm39) A197V probably benign Het
Ighv1-4 T A 12: 114,450,899 (GRCm39) I70F probably benign Het
Il19 A T 1: 130,866,893 (GRCm39) L29Q probably damaging Het
Kank1 A T 19: 25,389,005 (GRCm39) I893F probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kif13b T C 14: 65,025,884 (GRCm39) S1414P probably damaging Het
Miga2 AAGAG AAG 2: 30,265,755 (GRCm39) probably null Het
Mosmo T A 7: 120,329,715 (GRCm39) M112K probably benign Het
Ntmt2 A T 1: 163,530,617 (GRCm39) M274K probably damaging Het
Or2d2b A G 7: 106,706,033 (GRCm39) F12L probably damaging Het
Or2h1b C A 17: 37,462,636 (GRCm39) V76F probably damaging Het
Or2w3b T A 11: 58,623,724 (GRCm39) D89V probably damaging Het
Pak6 G A 2: 118,524,477 (GRCm39) V497I probably benign Het
Ppargc1b G A 18: 61,443,564 (GRCm39) S549F probably damaging Het
Rassf8 T A 6: 145,760,863 (GRCm39) L63* probably null Het
Rptn G T 3: 93,303,602 (GRCm39) G312* probably null Het
Rsph14 T C 10: 74,797,481 (GRCm39) I169V probably benign Het
Sltm A G 9: 70,469,227 (GRCm39) D162G probably null Het
Tatdn1 C T 15: 58,788,000 (GRCm39) probably null Het
Tbx4 A C 11: 85,805,102 (GRCm39) E397A probably benign Het
Tdrd12 T C 7: 35,177,486 (GRCm39) D956G unknown Het
Tnr G A 1: 159,685,953 (GRCm39) V395I probably benign Het
Ugt1a2 A T 1: 88,129,107 (GRCm39) H250L possibly damaging Het
Vmn1r173 C T 7: 23,401,920 (GRCm39) H52Y probably damaging Het
Vps11 T C 9: 44,267,706 (GRCm39) D302G probably benign Het
Zfp398 T C 6: 47,836,468 (GRCm39) probably null Het
Other mutations in Gdnf
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4377001:Gdnf UTSW 15 7,864,011 (GRCm39) missense probably benign 0.36
R1566:Gdnf UTSW 15 7,863,895 (GRCm39) missense probably benign 0.01
R1670:Gdnf UTSW 15 7,845,130 (GRCm39) missense probably benign 0.01
R2915:Gdnf UTSW 15 7,845,130 (GRCm39) missense possibly damaging 0.93
R5395:Gdnf UTSW 15 7,864,165 (GRCm39) missense probably damaging 1.00
R8152:Gdnf UTSW 15 7,864,243 (GRCm39) missense probably damaging 1.00
R8439:Gdnf UTSW 15 7,864,134 (GRCm39) nonsense probably null
R8491:Gdnf UTSW 15 7,864,272 (GRCm39) missense possibly damaging 0.67
R9492:Gdnf UTSW 15 7,840,423 (GRCm39) start gained probably benign
X0027:Gdnf UTSW 15 7,864,147 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCCAGAGAATTCCAGAGG -3'
(R):5'- TGGGCAAACATTTCCTGGGAAC -3'

Sequencing Primer
(F):5'- TCCAGAGGGAAAGGTCGC -3'
(R):5'- CTTCGCACTGTAGCAGGAATG -3'
Posted On 2020-09-02