|Institutional Source||Beutler Lab|
|Gene Name||cAMP responsive element binding protein 3-like 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7761 (G1)|
|Chromosomal Location||81084324-81098874 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 81084999 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 399 (D399G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112836 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005057] [ENSMUST00000117422]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: D399G
PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D399G
|Coding Region Coverage||
|Validation Efficiency||96% (72/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy but exhibit reduced expression of acute phase response proteins following treatment with tunicamycin that induces ER stress. Mice homozygous for a different knock-out allele exhibit resistanceto sulpyrine-induced shock. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Creb3l3||
(F):5'- TAAGCCACCTTGGTACCCAG -3'
(R):5'- GGTGAGACTCCACAAAGCTG -3'
(F):5'- ACCTTGGTACCCAGGACAG -3'
(R):5'- GGCTGTGCCTCATGCCTG -3'