|Institutional Source||Beutler Lab|
|Gene Name||corticotropin releasing hormone receptor 1|
|Synonyms||CRF 1 receptor, CRFR1, CRF-R1alpha|
|Is this an essential gene?||Probably non essential (E-score: 0.071)|
|Stock #||R5285 (G1)|
|Chromosomal Location||104132855-104175523 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 104170497 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 243 (I243F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091455 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093925]|
|Predicted Effect||possibly damaging
AA Change: I243F
PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: I243F
|Meta Mutation Damage Score||0.7913|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: The protein encoded by this gene is a G-protein coupled receptor that binds corticotropin-releasing factor (CRH) and urocortin (UCN) with high affinity. The encoded protein upregulates adenylate cyclase activity and intracellular cAMP levels. This protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response, and obesity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal zona fasciculata, low adrenocorticotropic hormone production, and reduced anxiety-related behaviors. Progeny of homozygote matings die from lung dysplasia within 48 hours of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crhr1||
(F):5'- AAGTGGATGTTCGTCTGCATCG -3'
(R):5'- AGAATTGAGGCCAGTGCTCTG -3'
(F):5'- TCACTGAGGATGTGGGCCAG -3'
(R):5'- GTGCCTTTGTTGAGGAAGAAGCC -3'