Incidental Mutation 'IGL03190:Agr2'
ID412606
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 #IGL03190
Quality Score
Status
Chromosome12
Chromosomal Location35992907-36004087 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35998635 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 128 (I128N)
Ref Sequence ENSEMBL: ENSMUSP00000020898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020898]
Predicted Effect probably damaging
Transcript: ENSMUST00000020898
AA Change: I128N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020898
Gene: ENSMUSG00000020581
AA Change: I128N

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,779,053 C314S probably damaging Het
Akr1c6 T C 13: 4,446,413 I91T possibly damaging Het
Ankrd45 A G 1: 161,163,339 I221V probably benign Het
Armc3 A T 2: 19,288,950 L517F probably damaging Het
Atp13a3 A T 16: 30,322,948 M1129K probably benign Het
Atp6v0a4 T A 6: 38,054,556 Q670L probably benign Het
Bank1 T C 3: 136,100,424 Y483C probably damaging Het
Bcan A T 3: 87,993,050 probably benign Het
Bcl11a G A 11: 24,158,333 E104K probably benign Het
Clasp2 C T 9: 113,844,140 Q368* probably null Het
Clcn1 T A 6: 42,290,103 Y71N probably benign Het
Cul2 C T 18: 3,429,634 T498I possibly damaging Het
Fam205a1 C A 4: 42,848,362 G1265C probably benign Het
Fat4 A G 3: 38,981,241 D3014G probably damaging Het
Flnc T C 6: 29,445,637 probably benign Het
Il1f9 C A 2: 24,187,260 S28* probably null Het
Itgb3bp A G 4: 99,789,686 probably benign Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Klk1b26 T C 7: 44,012,727 F3S possibly damaging Het
Lin52 T C 12: 84,457,958 V39A probably damaging Het
Magt1 A C X: 105,989,016 N242K probably benign Het
Nos3 A G 5: 24,383,629 M1118V probably damaging Het
Olfr341 A T 2: 36,479,722 M136K probably damaging Het
Olfr420 T C 1: 174,159,544 V257A probably damaging Het
Paqr5 A C 9: 61,972,802 L56R probably damaging Het
Pcdhb16 T C 18: 37,479,343 F452S probably damaging Het
Prdm5 T A 6: 65,856,132 probably benign Het
Rps6ka5 A G 12: 100,558,648 probably benign Het
Slc22a5 A G 11: 53,875,014 F249L probably benign Het
Ttll2 T C 17: 7,351,380 K383E probably benign Het
Ube2o G A 11: 116,545,128 P353L probably damaging Het
Vmn1r63 T C 7: 5,803,111 D174G probably benign Het
Vmn2r82 A G 10: 79,356,809 probably null Het
Xpnpep2 T A X: 48,118,328 probably benign Het
Zfp352 T A 4: 90,223,757 S45T possibly damaging Het
Zfp811 A G 17: 32,798,881 probably benign Het
Zfyve19 G A 2: 119,216,236 A304T probably damaging Het
Other mutations in Agr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Agr2 APN 12 35995581 missense possibly damaging 0.63
IGL02081:Agr2 APN 12 35995656 critical splice donor site probably null
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 On2016-08-02