Incidental Mutation 'IGL00332:Gfra3'
ID 5725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfra3
Ensembl Gene ENSMUSG00000024366
Gene Name glial cell line derived neurotrophic factor family receptor alpha 3
Synonyms GFR alpha-3, GFRalpha3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # IGL00332
Quality Score
Status
Chromosome 18
Chromosomal Location 34822951-34853440 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 34824601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025224]
AlphaFold O35118
Predicted Effect probably null
Transcript: ENSMUST00000025224
SMART Domains Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366

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
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,083,737 (GRCm39) Y404H possibly damaging Het
Adgrv1 T A 13: 81,620,996 (GRCm39) probably benign Het
Akap13 A G 7: 75,378,667 (GRCm39) K2107E probably damaging Het
Ankrd42 A G 7: 92,233,662 (GRCm39) probably benign Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Aplnr A G 2: 84,967,985 (GRCm39) S337G probably benign Het
Arhgef40 A G 14: 52,226,417 (GRCm39) N154D probably damaging Het
Asb14 A G 14: 26,633,998 (GRCm39) K401R probably benign Het
Aspn C A 13: 49,719,968 (GRCm39) T328K probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brca2 T A 5: 150,463,363 (GRCm39) H1042Q probably benign Het
C3 A G 17: 57,533,004 (GRCm39) L167P probably benign Het
Ccdc33 A G 9: 57,977,257 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,063 (GRCm39) M222K possibly damaging Het
Cfap45 C T 1: 172,362,912 (GRCm39) probably benign Het
Chil3 T A 3: 106,056,017 (GRCm39) N352I probably damaging Het
Chn2 G T 6: 54,272,907 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cpt1b T C 15: 89,305,066 (GRCm39) E394G probably benign Het
Fcgr2b T A 1: 170,788,799 (GRCm39) N273I possibly damaging Het
Fpr-rs7 G A 17: 20,333,480 (GRCm39) Q337* probably null Het
Fras1 T A 5: 96,887,217 (GRCm39) N2666K possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr75 C T 11: 30,841,590 (GRCm39) T165I probably damaging Het
Gzmd A T 14: 56,367,737 (GRCm39) C179S probably damaging Het
Hand1 T G 11: 57,722,575 (GRCm39) H13P probably damaging Het
Irak3 C T 10: 120,013,972 (GRCm39) probably null Het
Isl2 T A 9: 55,452,253 (GRCm39) L275Q possibly damaging Het
Itgb2 T C 10: 77,393,240 (GRCm39) V367A probably damaging Het
Katna1 T C 10: 7,638,758 (GRCm39) probably benign Het
Myh6 A G 14: 55,184,450 (GRCm39) M1627T probably benign Het
Naprt A G 15: 75,765,164 (GRCm39) Y187H probably damaging Het
Nedd4 T A 9: 72,642,371 (GRCm39) V550E probably damaging Het
Nt5c2 A G 19: 46,884,954 (GRCm39) V252A possibly damaging Het
Or8k39 T C 2: 86,563,579 (GRCm39) I126V possibly damaging Het
Or9i16 C T 19: 13,864,945 (GRCm39) V210I probably benign Het
P2ry2 A G 7: 100,647,393 (GRCm39) V304A probably damaging Het
Pde4dip T C 3: 97,674,593 (GRCm39) N108D probably benign Het
Pdgfrl A G 8: 41,438,660 (GRCm39) T199A probably damaging Het
Plaa A G 4: 94,470,844 (GRCm39) Y431H probably benign Het
Pls1 A T 9: 95,664,472 (GRCm39) I177N possibly damaging Het
Plxna2 T C 1: 194,472,138 (GRCm39) F1035L probably damaging Het
Ppp6r3 A T 19: 3,564,729 (GRCm39) probably null Het
Prpf4b T C 13: 35,067,890 (GRCm39) S240P probably benign Het
Reg2 T A 6: 78,383,204 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,682,965 (GRCm39) T361I probably benign Het
Rps4l A G 6: 148,256,383 (GRCm39) probably benign Het
Scn11a A T 9: 119,598,982 (GRCm39) F1183I probably damaging Het
Sh2b2 T C 5: 136,253,273 (GRCm39) E327G probably damaging Het
Shank2 A G 7: 143,965,584 (GRCm39) K1057R probably damaging Het
Sim2 T A 16: 93,915,803 (GRCm39) Y255* probably null Het
Snx9 A G 17: 5,949,636 (GRCm39) N112S probably benign Het
Sphkap T A 1: 83,258,237 (GRCm39) I169F probably damaging Het
Spink5 A G 18: 44,100,111 (GRCm39) T43A probably benign Het
Stac2 C T 11: 97,932,005 (GRCm39) S265N probably benign Het
Tbx20 A G 9: 24,670,044 (GRCm39) V91A probably damaging Het
Tgfbr2 C T 9: 115,939,257 (GRCm39) R190H probably damaging Het
Ubr2 A G 17: 47,301,916 (GRCm39) probably null Het
Wdfy3 C T 5: 102,063,204 (GRCm39) probably null Het
Wdr82 T C 9: 106,061,449 (GRCm39) V166A probably benign Het
Zfhx4 C T 3: 5,307,401 (GRCm39) A209V probably damaging Het
Zfp518b T A 5: 38,831,109 (GRCm39) T299S possibly damaging Het
Other mutations in Gfra3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7021:Gfra3 UTSW 18 34,823,933 (GRCm39) missense probably benign 0.00
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
Posted On 2012-04-20