|Institutional Source||Beutler Lab|
|Gene Name||EDAR (ectodysplasin-A receptor)-associated death domain|
|Is this an essential gene?||Probably essential (E-score: 0.753)|
|Stock #||R5994 (G1)|
|Chromosomal Location||12472632-12520438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 12478496 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 105 (I105N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000136158 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000179308]|
|AlphaFold||no structure available at present|
AA Change: I105N
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I105N
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutations may lead to a kinked tail, reduced fertility, abnormal respiration and sparse hair. Chemically-induced mutants may show developmental defects in teeth, hair and ectoderm-derived glands, reduced viability and fertility, respiratory disorders, and lipid, myelin and brain defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Edaradd||
(F):5'- CGGAATAAGAACTCCAGCGTG -3'
(R):5'- TTCCAAGGAAGGAATCGTGGAATC -3'
(F):5'- GCTGGCAAAATTCCTCCA -3'
(R):5'- GTGTGACACTTAGATGATGTCACC -3'