|Institutional Source||Beutler Lab|
|Gene Name||CREB regulated transcription coactivator 3|
|Is this an essential gene?||Probably non essential (E-score: 0.209)|
|Stock #||R4484 (G1)|
|Chromosomal Location||80586627-80688877 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80589948 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 552 (D552G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113540 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000122255]|
|Predicted Effect||probably damaging
AA Change: D552G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D552G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1244|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crtc3||
(F):5'- ATAGCCGGTCAGCTCGAAAC -3'
(R):5'- GCAGCATTAGGTAAATGAAACCC -3'
(F):5'- GTCAGCTCGAAACGTCTCC -3'
(R):5'- GGCAGTACACATCTGTCATTCGAG -3'