|Institutional Source||Beutler Lab|
|Gene Name||anterior gradient 2|
|Synonyms||XAG-2, mAG-2, Gob-4, HAG-2|
|Is this an essential gene?||Possibly non essential (E-score: 0.482)|
|Stock #||R6585 (G1)|
|Chromosomal Location||35992907-36004087 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 35995626 bp|
|Amino Acid Change||Arginine to Glutamine at position 37 (R37Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020898 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020898]|
|Predicted Effect||probably benign
AA Change: R37Q
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: R37Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0624|
|Coding Region Coverage||
|Validation Efficiency||97% (30/31)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit colitis and increased susceptibility to induced colitis. Mice homozygous for another knock-out allele exhibit hyperplasia and defective lineage maturation in the stomach that leads to intestinal obstruction and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Agr2||
(F):5'- TCCACCACTGCGATAGACTCTG -3'
(R):5'- CAGAGTTTCAGGCCCAAACC -3'
(F):5'- ACCACTGCGATAGACTCTGTAATTC -3'
(R):5'- CCTGCTGAGCCTGGATAATAGATAC -3'