|Institutional Source||Beutler Lab|
|Gene Name||glial cell line derived neurotrophic factor family receptor alpha 3|
|Synonyms||GFRalpha3, GFR alpha-3|
|Is this an essential gene?||Possibly non essential (E-score: 0.260)|
|Stock #||R0107 (G1)|
|Chromosomal Location||34689903-34720387 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 34711306 bp|
|Amino Acid Change||Histidine to Glutamine at position 60 (H60Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025224]|
|Predicted Effect||probably benign
AA Change: H60Q
PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: H60Q
|Meta Mutation Damage Score||0.1111|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
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||
|Other mutations in Gfra3||
(F):5'- GGACAGTGGTCTTACCAAGGCTTC -3'
(R):5'- CTGGACTGAGCAACTTCTTCCCATC -3'
(F):5'- TTACCAAGGCTTCGGGCAG -3'
(R):5'- tgaagcaaccagtgccc -3'