|Institutional Source||Beutler Lab|
|Gene Name||ectodysplasin-A receptor|
|Synonyms||anhidrotic ectodysplasin receptor 1, ectodermal dysplasia receptor, ectodysplasin A1 isoform receptor (EDA-A1R), downless (dl), ED1R, ED3, ED5, EDA3|
|Is this an essential gene?||Probably non essential (E-score: 0.230)|
|Stock #||R4998 (G1)|
|Chromosomal Location||58600789-58675654 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 58606093 bp|
|Amino Acid Change||Arginine to Glycine at position 326 (R326G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003312 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003312]|
|Predicted Effect||probably damaging
AA Change: R326G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R326G
|Meta Mutation Damage Score||0.232|
|Coding Region Coverage||
|Validation Efficiency||97% (91/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Edar||
(F):5'- GGAGTGAGCCCTGAATAACTC -3'
(R):5'- ACCTAGGGACAGTCTTCCTC -3'
(F):5'- TGGACCTCACTATGTAGACCAGG -3'
(R):5'- AGGGACAGTCTTCCTCTTGATAAC -3'