Gfra2 - SNV Details



 Gene Information 
Gene Name Gfra2
Gene Description glial cell line derived neurotrophic factor family receptor alpha 2 [Source:MGI Symbol;Acc:MGI:1195462]
MGI phenotype Homozygous mutants have dry eyes, poor postweaning growth associated with impaired parasympathetic cholinergic innervation of lacrimal and salivary glands and of small intestine, reduced skin thickness and accelerated hair follicle regression.
Uniprot Name
CCDS Name
Gene GO
anchored component of membrane; negative regulation of protein autophosphorylation; nervous system development; transmembrane receptor protein tyrosine kinase signaling pathway; glial cell-derived neurotrophic factor receptor signaling pathway; plasma membrane; glial cell-derived neurotrophic factor receptor activity
Homolog in other species GFRA2
Omim http://omim.org/entry/601956
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000022103
Chromosome 14
Coordinate 70,968,239     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 104
Allele Frequency
T:R0.45
A:V0.55
Amino Acid Change Disrupted splicing
Splice Position 5
Sample ID IGL00424
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 23 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved