|Institutional Source||Beutler Lab|
|Gene Name||corticotropin releasing hormone binding protein|
|Is this an essential gene?||Probably non essential (E-score: 0.179)|
|Stock #||R6235 (G1)|
|Chromosomal Location||95431371-95444924 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 95443850 bp|
|Amino Acid Change||Alanine to Serine at position 81 (A81S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042578 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045583] [ENSMUST00000221025]|
|Predicted Effect||probably damaging
AA Change: A81S
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: A81S
|Predicted Effect||possibly damaging
AA Change: A74S
PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display behavior indicative of increased anxiety. Male mice also show reduced food intake resulting in reduced growth between ages 7 and 15 weeks. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crhbp||
(F):5'- GCACTTAGAGGTTTAGTTGTCCC -3'
(R):5'- GGCTTGCAGGATATCTGGTC -3'
(F):5'- AGAGGTTTAGTTGTCCCCCACATG -3'
(R):5'- TGGGTTGCAGCATCCAC -3'