Incidental Mutation 'IGL00800:Gfra4'
ID 10958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfra4
Ensembl Gene ENSMUSG00000027316
Gene Name glial cell line derived neurotrophic factor family receptor alpha 4
Synonyms G630015H18Rik, GFR alpha-4
Accession Numbers
Essential gene? Not available question?
Stock # IGL00800
Quality Score
Status
Chromosome 2
Chromosomal Location 130881552-130885008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130882203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 268 (S268P)
Ref Sequence ENSEMBL: ENSMUSP00000028787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028787] [ENSMUST00000066958] [ENSMUST00000110234] [ENSMUST00000110235] [ENSMUST00000110239] [ENSMUST00000110240]
AlphaFold Q9JJT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000028787
AA Change: S268P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028787
Gene: ENSMUSG00000027316
AA Change: S268P

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
GDNF 132 226 1.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066958
SMART Domains Protein: ENSMUSP00000068357
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
GDNF 26 111 6.76e-17 SMART
GDNF 123 217 1.2e-31 SMART
low complexity region 248 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110234
SMART Domains Protein: ENSMUSP00000105863
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
low complexity region 132 147 N/A INTRINSIC
low complexity region 169 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110235
SMART Domains Protein: ENSMUSP00000105864
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GDNF 26 111 6.76e-17 SMART
low complexity region 123 138 N/A INTRINSIC
low complexity region 160 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110239
SMART Domains Protein: ENSMUSP00000105868
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
GDNF 132 226 1.2e-31 SMART
low complexity region 257 269 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110240
AA Change: S259P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105869
Gene: ENSMUSG00000027316
AA Change: S259P

DomainStartEndE-ValueType
GDNF 26 111 6.76e-17 SMART
GDNF 123 217 1.2e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184185
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for persephin, a member of the glial cell line derived neurotrophic factors. The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the receptor tyrosine kinase Ret. A complete lack of the encoded protein impairs production of thyroid calcitonin and increases the rate of bone formation in young mice. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations are mice were viable, fertile, showed no overt anatomical defects. Thyroid tissue calcitonin content was reduced in null homozygotes and rate of bone formation was enhanced when in 129/B6 hybrid background strain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,854,613 (GRCm39) I926L probably benign Het
Adam6b T C 12: 113,454,062 (GRCm39) V293A probably benign Het
Adamts14 T A 10: 61,041,197 (GRCm39) T838S probably benign Het
Cdk13 A G 13: 17,902,727 (GRCm39) V941A probably damaging Het
Cep128 T C 12: 91,222,438 (GRCm39) K762E possibly damaging Het
Dysf A G 6: 84,126,980 (GRCm39) N1366S probably damaging Het
Il7r T G 15: 9,525,195 (GRCm39) T56P probably damaging Het
Ipo13 C T 4: 117,769,505 (GRCm39) D96N probably benign Het
Kl G A 5: 150,904,233 (GRCm39) W328* probably null Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Ranbp2 T A 10: 58,326,526 (GRCm39) D2732E probably benign Het
Rpf2 G A 10: 40,115,755 (GRCm39) Q75* probably null Het
Scd2 T C 19: 44,286,569 (GRCm39) L133P probably damaging Het
Slc6a6 T A 6: 91,718,151 (GRCm39) probably benign Het
Other mutations in Gfra4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Gfra4 APN 2 130,884,560 (GRCm39) missense possibly damaging 0.73
R0625:Gfra4 UTSW 2 130,882,176 (GRCm39) missense probably null 0.05
R2285:Gfra4 UTSW 2 130,883,651 (GRCm39) missense probably damaging 1.00
R7233:Gfra4 UTSW 2 130,883,037 (GRCm39) missense probably damaging 0.96
R9702:Gfra4 UTSW 2 130,884,539 (GRCm39) missense probably benign
R9787:Gfra4 UTSW 2 130,884,600 (GRCm39) start codon destroyed probably null 0.00
Posted On 2012-12-06