|Institutional Source||Beutler Lab|
|Gene Name||corticotropin releasing hormone|
|Synonyms||corticotropin releasing factor, corticotropin-releasing factor, CRF, LOC383938|
|Is this an essential gene?||Possibly non essential (E-score: 0.414)|
|Stock #||R0047 (G1)|
|Chromosomal Location||19693401-19695396 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 19694037 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 147 (E147G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029139] [ENSMUST00000061294]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: E147G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E147G
|Meta Mutation Damage Score||0.3169|
|Coding Region Coverage||
|Validation Efficiency||100% (98/98)|
FUNCTION: This gene encodes a member of the corticotropin-releasing factor family and preproprotein that is proteolytically processed to generate a mature protein product. This protein product is a neuropeptide hormone that binds to the corticotropin releasing hormone receptors (CRHR1 and CRHR2) to stimulate the release of adrenocorticotropic hormone from the pituitary gland in response to stress. The encoded protein may also regulate angiogenesis and inflammation. Homozygous knockout mice for this gene exhibit reduced corticosterone levels while the offspring of these mice die perinatally. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have abnormal adrenal gland morphology, decreased corticosterone levels and abnormal corticosteroid responses to stress. Homozygous litters born from homozygous females display neonatal lethality, impaired lung maturation and delayedcornified and granular layer development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crh||
(F):5'- AAACAACTGGATGACTCCCATCTGC -3'
(R):5'- ATCTCAACAGAAGTCCCGCTGCTC -3'
(F):5'- AACGCTGTTTTGTTACGACAC -3'
(R):5'- TGTCCCCCAACTCCACG -3'