|Institutional Source||Beutler Lab|
|Gene Name||glial cell line derived neurotrophic factor family receptor alpha 2|
|Synonyms||GFR alpha-2, GFR alpha 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.254)|
|Stock #||R4804 (G1)|
|Chromosomal Location||70890120-70979838 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70925921 bp|
|Amino Acid Change||Tyrosine to Histidine at position 215 (Y215H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227697]|
|Predicted Effect||possibly damaging
AA Change: Y215H
PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: Y215H
|Predicted Effect||probably benign
AA Change: Y82H
PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|Meta Mutation Damage Score||0.1816|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: The protein encoded by this gene is part of the receptor complex that transduces glial cell-derived neurotrophic factor and neurturin signals by mediating autophosphorylation and activation of the RET receptor. Mice lacking this protein are viable and fertile but display growth retardation attributed to impaired salivary and pancreatic secretion and innervation deficits in the intestinal tract. In addition, knockout mice display neural defects including a failure to initiate outgrowth of dorsal ganglion root neurons, demonstrating a requirement in neuronal differentiation of these cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gfra2||
(F):5'- GGTCACATGTGTCCATTCCC -3'
(R):5'- AGCATCCGTAGCTTCAGCAG -3'
(F):5'- TTTGCCTTCCAGGGACAGG -3'
(R):5'- AGCTCTTACCGGCACAAGTG -3'