|Institutional Source||Beutler Lab|
|Gene Name||CREB regulated transcription coactivator 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.317)|
|Stock #||R5908 (G1)|
|Chromosomal Location||80586627-80688877 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 80595794 bp|
|Amino Acid Change||Histidine to Leucine at position 361 (H361L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113540 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000122255]|
|Predicted Effect||possibly damaging
AA Change: H361L
PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: H361L
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
AA Change: T79S
|Meta Mutation Damage Score||0.0773|
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
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'- ATCTTTCTCACCTGGGAGGC -3'
(R):5'- TGTGCAGCTAGTAGGAACTTTG -3'
(F):5'- TCTCACCTGGGAGGCAGGATAC -3'
(R):5'- CAGCTAGTAGGAACTTTGCTTGAC -3'