Incidental Mutation 'R0625:Gfra4'
ID 57398
Institutional Source Beutler Lab
Gene Symbol Gfra4
Ensembl Gene ENSMUSG00000027316
Gene Name glial cell line derived neurotrophic factor family receptor alpha 4
Synonyms G630015H18Rik, GFR alpha-4
MMRRC Submission 038814-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0625 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130881552-130885008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130882176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 277 (V277I)
Ref Sequence ENSEMBL: ENSMUSP00000028787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028787] [ENSMUST00000028787] [ENSMUST00000066958] [ENSMUST00000110234] [ENSMUST00000110235] [ENSMUST00000110239] [ENSMUST00000110240]
AlphaFold Q9JJT2
Predicted Effect probably null
Transcript: ENSMUST00000028787
AA Change: V277I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028787
Gene: ENSMUSG00000027316
AA Change: V277I

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
GDNF 132 226 1.2e-31 SMART
Predicted Effect probably null
Transcript: ENSMUST00000028787
AA Change: V277I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028787
Gene: ENSMUSG00000027316
AA Change: V277I

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
GDNF 132 226 1.2e-31 SMART
Predicted Effect silent
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 null
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 null
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 silent
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 probably benign
Transcript: ENSMUST00000110240
AA Change: V268I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105869
Gene: ENSMUSG00000027316
AA Change: V268I

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,319,365 (GRCm39) S2P probably benign Het
Abca16 A C 7: 120,035,116 (GRCm39) T301P probably damaging Het
Acer2 A G 4: 86,805,399 (GRCm39) D121G possibly damaging Het
Adgrd1 T C 5: 129,248,995 (GRCm39) probably null Het
Arhgap11a T C 2: 113,672,056 (GRCm39) I249V probably benign Het
Arhgap22 A G 14: 33,088,671 (GRCm39) E219G probably benign Het
C2cd4b T A 9: 67,667,033 (GRCm39) S10T probably benign Het
Cnot6 A T 11: 49,573,998 (GRCm39) I224N probably damaging Het
Ctrc T C 4: 141,568,829 (GRCm39) T125A probably damaging Het
Cxxc5 T G 18: 35,991,642 (GRCm39) S14R unknown Het
Cyp4f37 T G 17: 32,853,652 (GRCm39) F445L probably damaging Het
Dcbld1 T G 10: 52,188,946 (GRCm39) I186S probably benign Het
Dmxl2 T C 9: 54,289,986 (GRCm39) T2510A probably benign Het
Dnah3 A G 7: 119,671,110 (GRCm39) I591T possibly damaging Het
Dock5 A T 14: 68,078,612 (GRCm39) I204N probably benign Het
Dysf G A 6: 84,088,969 (GRCm39) probably null Het
Erich5 A G 15: 34,471,515 (GRCm39) E248G probably damaging Het
Fhip1a A G 3: 85,637,807 (GRCm39) V164A possibly damaging Het
Foxm1 A G 6: 128,350,834 (GRCm39) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm39) T959A probably benign Het
Hacd4 T C 4: 88,353,247 (GRCm39) I82V probably benign Het
Itih2 C T 2: 10,128,225 (GRCm39) V159I possibly damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Marchf11 A G 15: 26,311,129 (GRCm39) I202V probably damaging Het
Marchf3 A G 18: 56,944,902 (GRCm39) probably null Het
Med12l G A 3: 59,154,858 (GRCm39) E1135K probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlx T C 11: 100,978,608 (GRCm39) L78P possibly damaging Het
Muc5b T C 7: 141,400,164 (GRCm39) C473R unknown Het
N4bp2l1 T A 5: 150,500,210 (GRCm39) R66* probably null Het
Nes A G 3: 87,884,479 (GRCm39) T913A possibly damaging Het
Oas1a T C 5: 121,037,322 (GRCm39) E235G probably damaging Het
Or5p56 T C 7: 107,590,396 (GRCm39) S275P probably damaging Het
Or8b1c T C 9: 38,384,504 (GRCm39) S154P possibly damaging Het
Or8i2 T A 2: 86,851,964 (GRCm39) H308L probably benign Het
Parn C T 16: 13,458,158 (GRCm39) V286I probably benign Het
Paxip1 G A 5: 27,970,940 (GRCm39) Q470* probably null Het
Phc2 C G 4: 128,617,503 (GRCm39) H510D possibly damaging Het
Pla2g4f T A 2: 120,135,522 (GRCm39) D384V probably damaging Het
Plpbp A T 8: 27,535,159 (GRCm39) N68I probably damaging Het
Podxl2 G A 6: 88,826,937 (GRCm39) A123V possibly damaging Het
Pole A T 5: 110,473,416 (GRCm39) T1737S possibly damaging Het
Ppp3cc T C 14: 70,462,476 (GRCm39) E396G probably damaging Het
Pramel7 T A 2: 87,321,352 (GRCm39) I228F probably benign Het
Prl7d1 A T 13: 27,894,123 (GRCm39) C149S probably benign Het
Qtrt1 G T 9: 21,329,584 (GRCm39) M217I probably benign Het
Sec24a T A 11: 51,620,281 (GRCm39) D456V probably damaging Het
Shox2 T G 3: 66,888,877 (GRCm39) probably null Het
Skint2 T A 4: 112,481,283 (GRCm39) S49T probably damaging Het
Smarca5 A G 8: 81,447,315 (GRCm39) probably null Het
Sorcs2 T A 5: 36,181,916 (GRCm39) D1068V possibly damaging Het
Tmem114 T C 16: 8,229,966 (GRCm39) probably null Het
Ttc7b T A 12: 100,321,305 (GRCm39) M24L probably benign Het
Ttll3 A G 6: 113,385,864 (GRCm39) probably null Het
Usp7 C T 16: 8,522,846 (GRCm39) D102N probably benign Het
Other mutations in Gfra4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Gfra4 APN 2 130,882,203 (GRCm39) missense possibly damaging 0.82
IGL02966:Gfra4 APN 2 130,884,560 (GRCm39) missense possibly damaging 0.73
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
Predicted Primers PCR Primer
(F):5'- TTTCAGTCAGACCCTAGCCTCCAG -3'
(R):5'- TGACAGCTTGCAGCCATCAGTTC -3'

Sequencing Primer
(F):5'- AGCCCCCAATCCAGAGG -3'
(R):5'- CAGTTTCCGAATCCTTCCCA -3'
Posted On 2013-07-11