|Institutional Source||Beutler Lab|
|Gene Name||endothelin receptor type A|
|Synonyms||Gpcr10, ET-AR, ETa|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6743 (G1)|
|Chromosomal Location||77663031-77724464 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 77675089 bp|
|Amino Acid Change||Serine to Glycine at position 191 (S191G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034029 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034029]|
|Predicted Effect||probably damaging
AA Change: S191G
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S191G
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous inactivation of this gene results in numerous severe craniofacial defects and perinatal lethality. Aberrant middle ear development and cardiac defects, including great vessel malformations and abnormal cardiac outflow tract development, have been observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ednra||
(F):5'- TACCTCCATGAACTTGGACGTG -3'
(R):5'- CCAAATGGGAAGTTGGTTTGC -3'
(F):5'- CATGAACTTGGACGTGGCGTTG -3'
(R):5'- TCAAGGCTGGCTGAAAATTCCTC -3'