|Institutional Source||Beutler Lab|
|Gene Name||aryl-hydrocarbon receptor|
|Synonyms||bHLHe76, In, dioxin receptor, Ah, Ahh, Ahre|
|Is this an essential gene?||Probably essential (E-score: 0.945)|
|Stock #||R0784 (G1)|
|Chromosomal Location||35497974-35535038 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 35508142 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 293 (G293D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112137 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110811] [ENSMUST00000116436]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: G293D
PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: G293D
|Meta Mutation Damage Score||0.14|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
FUNCTION: The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ahr||
(F):5'- GTGGTATGCGATTTCCACAACATTCAAA -3'
(R):5'- AGGCAATGAATTTCCAAGGGAGGTTAAA -3'
(F):5'- AGAGACAGGGTCTGTCATTTATTC -3'
(R):5'- GAATTTCCAAGGGAGGTTAAAGTATC -3'