Incidental Mutation 'R7021:Gfra3'
ID 545658
Institutional Source Beutler Lab
Gene Symbol Gfra3
Ensembl Gene ENSMUSG00000024366
Gene Name glial cell line derived neurotrophic factor family receptor alpha 3
Synonyms GFR alpha-3, GFRalpha3
MMRRC Submission 045122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R7021 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 34822951-34853440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34823933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 347 (R347L)
Ref Sequence ENSEMBL: ENSMUSP00000025224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025224]
AlphaFold O35118
Predicted Effect probably benign
Transcript: ENSMUST00000025224
AA Change: R347L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366
AA Change: R347L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
GDNF 41 122 1.33e-15 SMART
GDNF 159 236 5.57e-18 SMART
GDNF 245 337 9.84e-28 SMART
low complexity region 380 393 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: This gene encodes a cell surface glycoprotein and member of the glial cell line-derived neurotrophic receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein mediates binding of the ligand artemin to the ret receptor tyrosine kinase, and this interaction may regulate thermal pain and axon regeneration. Homozygous knockout mice for this gene exhibit impaired proliferation of cultured neuroblasts and impaired development of the superior cervical ganglion. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruption of this gene display ptosis and poor development of the sympathetic chain ganglia and associated nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,442,062 (GRCm39) L63R probably damaging Het
Abcb5 C T 12: 118,895,660 (GRCm39) V379I probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ahsa1 T C 12: 87,318,154 (GRCm39) S37P possibly damaging Het
Arnt2 A T 7: 83,993,150 (GRCm39) L130H probably damaging Het
Atp8b5 T A 4: 43,355,618 (GRCm39) F533I probably damaging Het
Best1 A G 19: 9,964,143 (GRCm39) V439A probably benign Het
Bicc1 A G 10: 70,796,978 (GRCm39) V127A probably damaging Het
Brd7 T C 8: 89,073,632 (GRCm39) T253A probably benign Het
Btd A G 14: 31,389,788 (GRCm39) D503G probably benign Het
Ccdc80 A G 16: 44,924,804 (GRCm39) E646G probably damaging Het
Ccl25 A G 8: 4,399,641 (GRCm39) probably benign Het
Ccnf C A 17: 24,461,205 (GRCm39) W150L probably damaging Het
Cdk11b A T 4: 155,726,024 (GRCm39) probably benign Het
Cfap73 T C 5: 120,768,149 (GRCm39) E203G probably benign Het
Cmya5 T C 13: 93,230,063 (GRCm39) E1675G possibly damaging Het
Copg1 T A 6: 87,871,087 (GRCm39) Y268N possibly damaging Het
Csnk2a1 T A 2: 152,102,732 (GRCm39) H126Q probably damaging Het
Ctbs G A 3: 146,160,703 (GRCm39) G90D probably damaging Het
Ctnna2 T C 6: 77,613,888 (GRCm39) Y221C probably damaging Het
Cypt12 C T 3: 18,002,635 (GRCm39) R3C unknown Het
D630003M21Rik A T 2: 158,058,670 (GRCm39) M410K possibly damaging Het
Dnah9 A T 11: 65,872,057 (GRCm39) N2724K probably benign Het
Dok3 T C 13: 55,672,097 (GRCm39) T194A probably benign Het
Edem3 T G 1: 151,631,423 (GRCm39) S36A probably benign Het
Eed C T 7: 89,629,727 (GRCm39) E3K possibly damaging Het
Efcab2 A G 1: 178,308,925 (GRCm39) I143V probably benign Het
Ensa A T 3: 95,534,359 (GRCm39) probably null Het
Galnt16 A T 12: 80,626,826 (GRCm39) E219V probably damaging Het
Gm2042 T A 12: 87,927,009 (GRCm39) I442K probably damaging Het
Gpld1 A T 13: 25,168,691 (GRCm39) D735V probably damaging Het
Hspg2 T C 4: 137,269,580 (GRCm39) S2253P possibly damaging Het
Kit T C 5: 75,781,627 (GRCm39) I352T probably benign Het
Klra6 A T 6: 129,995,821 (GRCm39) V179E possibly damaging Het
Lctl T A 9: 64,040,075 (GRCm39) probably null Het
Lman1 C A 18: 66,124,714 (GRCm39) V342L probably benign Het
Lrrn2 T C 1: 132,866,522 (GRCm39) L529P probably damaging Het
Mab21l2 A G 3: 86,454,793 (GRCm39) I69T probably benign Het
Mapkapk5 G T 5: 121,665,274 (GRCm39) A327E probably benign Het
Mex3b G T 7: 82,519,080 (GRCm39) R465L possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mgat4c A G 10: 102,224,289 (GRCm39) R168G possibly damaging Het
Mkks A G 2: 136,718,007 (GRCm39) probably null Het
Muc16 G T 9: 18,466,215 (GRCm39) H7368N unknown Het
Muc16 T C 9: 18,462,127 (GRCm39) probably null Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Notch2 T C 3: 98,042,762 (GRCm39) S1376P probably benign Het
Obox5 A G 7: 15,491,681 (GRCm39) probably null Het
Or10j5 T C 1: 172,784,494 (GRCm39) I44T probably benign Het
Or6c8b A T 10: 128,882,899 (GRCm39) I11N probably damaging Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pitrm1 T A 13: 6,628,593 (GRCm39) V962E probably damaging Het
Pkd2l1 T C 19: 44,142,647 (GRCm39) Q465R probably damaging Het
Pla1a A G 16: 38,221,244 (GRCm39) I372T probably damaging Het
Prmt5 A C 14: 54,752,845 (GRCm39) F122C probably damaging Het
Prrc2b T A 2: 32,111,498 (GRCm39) S1905T probably damaging Het
Ptprf T G 4: 118,081,101 (GRCm39) K1163N probably benign Het
Rab3ip A G 10: 116,775,283 (GRCm39) V25A probably damaging Het
Raf1 T C 6: 115,597,300 (GRCm39) probably null Het
Rnf180 T C 13: 105,407,429 (GRCm39) E40G probably benign Het
Rpl6 T A 5: 121,346,972 (GRCm39) M289K probably benign Het
Slc25a32 A G 15: 38,963,321 (GRCm39) F167L probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc4a4 T A 5: 89,188,205 (GRCm39) probably null Het
Sppl2a A G 2: 126,769,663 (GRCm39) probably null Het
Tbr1 T A 2: 61,637,688 (GRCm39) D82E probably benign Het
Tbx10 A T 19: 4,048,961 (GRCm39) T291S probably benign Het
Tlr1 T A 5: 65,083,056 (GRCm39) H507L possibly damaging Het
Trim37 A C 11: 87,058,335 (GRCm39) T338P probably benign Het
Trpv5 T C 6: 41,630,204 (GRCm39) T629A probably benign Het
Ttc14 T A 3: 33,857,646 (GRCm39) I249N probably damaging Het
Uhrf1 A G 17: 56,627,450 (GRCm39) T661A probably benign Het
Vmn2r65 A G 7: 84,596,587 (GRCm39) I156T probably benign Het
Vwde T C 6: 13,186,905 (GRCm39) N861D probably damaging Het
Zan A G 5: 137,422,213 (GRCm39) C2802R unknown Het
Other mutations in Gfra3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Gfra3 APN 18 34,824,601 (GRCm39) critical splice donor site probably null
IGL01778:Gfra3 APN 18 34,824,644 (GRCm39) missense possibly damaging 0.65
IGL02051:Gfra3 APN 18 34,828,894 (GRCm39) missense possibly damaging 0.95
R0107:Gfra3 UTSW 18 34,844,359 (GRCm39) missense probably benign 0.04
R0573:Gfra3 UTSW 18 34,824,668 (GRCm39) missense probably benign
R1029:Gfra3 UTSW 18 34,823,892 (GRCm39) missense probably benign 0.01
R1870:Gfra3 UTSW 18 34,844,373 (GRCm39) missense probably damaging 0.97
R2512:Gfra3 UTSW 18 34,837,564 (GRCm39) missense probably benign 0.04
R4689:Gfra3 UTSW 18 34,823,640 (GRCm39) missense unknown
R4801:Gfra3 UTSW 18 34,853,245 (GRCm39) missense probably damaging 0.98
R4802:Gfra3 UTSW 18 34,853,245 (GRCm39) missense probably damaging 0.98
R4884:Gfra3 UTSW 18 34,844,304 (GRCm39) missense probably benign 0.00
R5824:Gfra3 UTSW 18 34,844,264 (GRCm39) missense probably damaging 1.00
R6111:Gfra3 UTSW 18 34,823,927 (GRCm39) missense probably damaging 1.00
R6192:Gfra3 UTSW 18 34,837,582 (GRCm39) missense possibly damaging 0.87
R6228:Gfra3 UTSW 18 34,828,846 (GRCm39) missense probably damaging 1.00
R6251:Gfra3 UTSW 18 34,828,864 (GRCm39) frame shift probably null
R6759:Gfra3 UTSW 18 34,828,926 (GRCm39) nonsense probably null
R6781:Gfra3 UTSW 18 34,844,375 (GRCm39) missense possibly damaging 0.56
R6894:Gfra3 UTSW 18 34,828,710 (GRCm39) missense probably damaging 1.00
R7232:Gfra3 UTSW 18 34,844,234 (GRCm39) missense probably damaging 1.00
R7236:Gfra3 UTSW 18 34,828,884 (GRCm39) missense probably damaging 0.99
R8830:Gfra3 UTSW 18 34,844,189 (GRCm39) missense possibly damaging 0.93
R8987:Gfra3 UTSW 18 34,823,879 (GRCm39) missense probably benign 0.14
R9329:Gfra3 UTSW 18 34,837,560 (GRCm39) missense probably damaging 1.00
R9664:Gfra3 UTSW 18 34,837,591 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACATCCTTTCGTCACCTAAG -3'
(R):5'- AGCCCTAAGAACTGGAAGTAGC -3'

Sequencing Primer
(F):5'- TTTCGTCACCTAAGCCTAAGGGAAG -3'
(R):5'- TAGCAAGCAGAACGAGTCACTAGTC -3'
Posted On 2019-05-13