Incidental Mutation 'IGL02081:Agr2'
ID192604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agr2
Ensembl Gene ENSMUSG00000020581
Gene Nameanterior gradient 2
SynonymsXAG-2, mAG-2, Gob-4, HAG-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.482) question?
Stock #IGL02081
Quality Score
Status
Chromosome12
Chromosomal Location35992907-36004087 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 35995656 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020898]
Predicted Effect probably null
Transcript: ENSMUST00000020898
SMART Domains Protein: ENSMUSP00000020898
Gene: ENSMUSG00000020581

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin_7 53 133 1.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147861
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 43,570,196 L86I probably damaging Het
Adamts17 C T 7: 67,062,110 R726C probably damaging Het
Aff1 A G 5: 103,834,305 K778R probably damaging Het
Alms1 T A 6: 85,620,303 C1173S possibly damaging Het
Apol7b A G 15: 77,423,536 L253P possibly damaging Het
Atp10a A T 7: 58,827,856 T1268S possibly damaging Het
Atr A T 9: 95,883,205 K1149N probably damaging Het
Bri3bp G A 5: 125,441,897 probably null Het
Ccser1 T A 6: 61,311,168 L105* probably null Het
Cyp4a10 G A 4: 115,521,172 A152T possibly damaging Het
Dock2 C T 11: 34,254,355 D1396N probably benign Het
Ext1 A T 15: 53,073,446 Y634* probably null Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Gcn1l1 A G 5: 115,585,871 K529E probably damaging Het
H2-Q2 A G 17: 35,342,708 D58G probably damaging Het
Hid1 T C 11: 115,348,506 D776G possibly damaging Het
Il18r1 A T 1: 40,498,505 S477C probably damaging Het
Jmjd1c T G 10: 67,219,526 F242V probably benign Het
Krtap4-1 G A 11: 99,628,184 probably benign Het
Mms19 A G 19: 41,949,979 probably null Het
Mpdz T C 4: 81,335,869 T1009A probably damaging Het
Mrpl22 T C 11: 58,171,821 I19T probably benign Het
Mrvi1 T C 7: 110,924,074 probably null Het
Nup88 A G 11: 70,954,654 probably benign Het
Olfr1442 A T 19: 12,674,816 I204F probably benign Het
Pnpo T C 11: 96,939,324 Y183C probably damaging Het
Poln C T 5: 34,129,139 M228I probably benign Het
Scara5 T C 14: 65,730,655 W126R possibly damaging Het
Scmh1 T G 4: 120,515,078 C359W probably damaging Het
Snrpn T C 7: 59,987,446 I41V possibly damaging Het
St8sia1 T C 6: 142,829,227 M209V probably benign Het
Stard9 T A 2: 120,664,910 S89T probably damaging Het
Tet1 T C 10: 62,813,818 T1667A probably damaging Het
Tmem217 C T 17: 29,526,373 G128S probably damaging Het
Ttpal A G 2: 163,615,388 N260S probably benign Het
Vwa2 A G 19: 56,902,236 D233G probably benign Het
Wdr83 A G 8: 85,075,843 F258L probably benign Het
Zfp277 A T 12: 40,328,796 L354* probably null Het
Zfp516 A G 18: 82,955,733 R19G probably benign Het
Other mutations in Agr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Agr2 APN 12 35995581 missense possibly damaging 0.63
IGL03190:Agr2 APN 12 35998635 missense probably damaging 1.00
IGL02835:Agr2 UTSW 12 35995904 missense probably benign 0.23
R5514:Agr2 UTSW 12 35996091 missense probably benign
R5894:Agr2 UTSW 12 35995510 splice site probably benign
R6196:Agr2 UTSW 12 35995592 nonsense probably null
R6584:Agr2 UTSW 12 35995626 missense probably benign
R6585:Agr2 UTSW 12 35995626 missense probably benign
R6850:Agr2 UTSW 12 35995559 missense probably benign
R7384:Agr2 UTSW 12 35995924 missense probably damaging 0.98
R7459:Agr2 UTSW 12 35997453 missense probably benign 0.20
R7533:Agr2 UTSW 12 35996129 critical splice donor site probably null
R7567:Agr2 UTSW 12 35995947 missense probably benign 0.00
R8039:Agr2 UTSW 12 35995559 missense probably benign 0.10
R8118:Agr2 UTSW 12 35996107 missense probably benign 0.45
Posted On2014-05-14