|Institutional Source||Beutler Lab|
|Gene Name||transglutaminase 2, C polypeptide|
|Synonyms||tTG, protein-glutamine gamma-glutamyltransferase, TGase2, TG2, TG C, G[a]h, tTGas, tissue transglutaminase|
|Is this an essential gene?||Possibly non essential (E-score: 0.267)|
|Stock #||R7268 (G1)|
|Chromosomal Location||158116402-158146436 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||G to A at 158120268 bp|
|Amino Acid Change||Arginine to Stop codon at position 544 (R544*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099411 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000152452]|
|Predicted Effect||probably null
AA Change: R544*
AA Change: R544*
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: A homozygous null mutation causes alterations in glucose and aerobic energy metabolism, tumor growth, and response to myocardial infarction, liver injury, and LPS-induced sepsis. A second null mutation confers resistance to renal injury, while a third one alters cell adhesion and T cell physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgm2||
(F):5'- TGTAAATGGGAGCTCTGTCCAG -3'
(R):5'- GGTCACCAGCTAGAAGGAATCG -3'
(F):5'- AGCTCTGTCCAGGGGCG -3'
(R):5'- TCGAGGCAAACTGGGAACAC -3'