|Institutional Source||Beutler Lab|
|Gene Name||urocortin 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6990 (G1)|
|Chromosomal Location||3940688-3945349 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 3941295 bp|
|Amino Acid Change||Arginine to Glutamine at position 119 (R119Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049678 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058610]|
|Predicted Effect||possibly damaging
AA Change: R119Q
PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: R119Q
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the corticotropin-releasing hormone peptide family that participates in coordinating autonomic, endocrine, and behavioral responses to stress. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional hormone. The pancreatic islets isolated from mice lacking the encoded protein secrete less insulin in response to high glucose concentrations. Transgenic mice overexpressing the encoded protein exhibit a metabolically favorable phenotype resisting obesity and hyperglycemia on a high-fat diet. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for one null allele are protected from the hyperinsulinemia, hyperglycemia, glucose intolerance, hepatic steatosis and hypertriglyceridemia induced by a high-fat diet, and show better glucose tolerance as they age. Mice homozygous for another null allele show improved social memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ucn3||
(F):5'- CTTGATGTGCCACCCTCATG -3'
(R):5'- AGCCCTATCTGAGGTCAAGAAG -3'
(F):5'- TCATGCCTGGGCTTTGC -3'
(R):5'- CAAGAAGAGCTTTGGCCACCTG -3'