|Institutional Source||Beutler Lab|
|Gene Name||urocortin 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2408 (G1)|
|Chromosomal Location||3940688-3945349 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 3941413 bp|
|Amino Acid Change||Isoleucine to Leucine at position 80 (I80L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049678 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058610]|
|Predicted Effect||probably benign
AA Change: I80L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: I80L
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (33/34)|
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'- CTCGCAAATTCTTGGCCTTG -3'
(R):5'- ACTTCTGCTGCTCCTAGGAG -3'
(F):5'- CAAATTCTTGGCCTTGTCGATG -3'
(R):5'- TGCTCCTAGGAGGTCCAAG -3'