Incidental Mutation 'R7533:Agr2'
ID 583425
Institutional Source Beutler Lab
Gene Symbol Agr2
Ensembl Gene ENSMUSG00000020581
Gene Name anterior gradient 2
Synonyms mAG-2, HAG-2, XAG-2, Gob-4
MMRRC Submission 045605-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R7533 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 36042924-36054080 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 36046128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020898]
AlphaFold O88312
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (36/36)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A T 18: 65,437,674 (GRCm39) S1240T probably damaging Het
Atp8b2 G A 3: 89,852,831 (GRCm39) L144F Het
Cck T C 9: 121,319,201 (GRCm39) D94G probably damaging Het
Ccser1 A T 6: 61,615,474 (GRCm39) T659S probably benign Het
Cfap74 C A 4: 155,500,200 (GRCm39) D15E Het
Commd5 G A 15: 76,784,776 (GRCm39) A58T probably benign Het
Dctn2 A G 10: 127,103,347 (GRCm39) D34G possibly damaging Het
Ecpas T C 4: 58,809,411 (GRCm39) I1654M probably benign Het
Epha6 T C 16: 60,025,925 (GRCm39) T506A probably damaging Het
Fat4 A C 3: 39,061,406 (GRCm39) I4330L probably benign Het
Fcho2 G T 13: 98,921,307 (GRCm39) Q193K probably benign Het
Hace1 A T 10: 45,587,570 (GRCm39) I890L probably benign Het
Igsf11 T G 16: 38,829,236 (GRCm39) N102K probably benign Het
Il7r G A 15: 9,508,047 (GRCm39) S425L probably benign Het
Itga3 G T 11: 94,937,344 (GRCm39) Q1011K probably benign Het
Kif3c T A 12: 3,416,510 (GRCm39) I177N probably damaging Het
Neb G A 2: 52,114,578 (GRCm39) A1048V Het
Neu4 C T 1: 93,950,122 (GRCm39) T27M probably benign Het
Or52b3 T C 7: 102,203,718 (GRCm39) S76P probably damaging Het
P4htm T C 9: 108,474,136 (GRCm39) H134R probably benign Het
Padi6 T C 4: 140,458,506 (GRCm39) D462G probably damaging Het
Pi4ka T C 16: 17,115,525 (GRCm39) D1375G Het
Ptgr1 C T 4: 58,971,011 (GRCm39) R247H possibly damaging Het
Rad50 T C 11: 53,589,746 (GRCm39) N152D probably damaging Het
Serpina1c T A 12: 103,863,566 (GRCm39) K211N probably damaging Het
Sgsh T C 11: 119,238,696 (GRCm39) E256G probably damaging Het
Tnrc6b T C 15: 80,811,942 (GRCm39) probably null Het
Ube3d A G 9: 86,304,990 (GRCm39) F284S probably damaging Het
Usp13 A G 3: 32,973,091 (GRCm39) D757G probably damaging Het
Vmn1r173 C T 7: 23,402,071 (GRCm39) A102V probably benign Het
Vmn2r29 G T 7: 7,244,656 (GRCm39) A406D probably damaging Het
Wdfy3 G A 5: 102,030,354 (GRCm39) R2385C probably benign Het
Zfp112 A T 7: 23,824,752 (GRCm39) K244M possibly damaging Het
Zfp61 T C 7: 23,990,504 (GRCm39) Q549R probably benign Het
Other mutations in Agr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Agr2 APN 12 36,045,580 (GRCm39) missense possibly damaging 0.63
IGL02081:Agr2 APN 12 36,045,655 (GRCm39) critical splice donor site probably null
IGL03190:Agr2 APN 12 36,048,634 (GRCm39) missense probably damaging 1.00
IGL02835:Agr2 UTSW 12 36,045,903 (GRCm39) missense probably benign 0.23
R5514:Agr2 UTSW 12 36,046,090 (GRCm39) missense probably benign
R5894:Agr2 UTSW 12 36,045,509 (GRCm39) splice site probably benign
R6196:Agr2 UTSW 12 36,045,591 (GRCm39) nonsense probably null
R6584:Agr2 UTSW 12 36,045,625 (GRCm39) missense probably benign
R6585:Agr2 UTSW 12 36,045,625 (GRCm39) missense probably benign
R6850:Agr2 UTSW 12 36,045,558 (GRCm39) missense probably benign
R7384:Agr2 UTSW 12 36,045,923 (GRCm39) missense probably damaging 0.98
R7459:Agr2 UTSW 12 36,047,452 (GRCm39) missense probably benign 0.20
R7567:Agr2 UTSW 12 36,045,946 (GRCm39) missense probably benign 0.00
R8039:Agr2 UTSW 12 36,045,558 (GRCm39) missense probably benign 0.10
R8118:Agr2 UTSW 12 36,046,106 (GRCm39) missense probably benign 0.45
R9026:Agr2 UTSW 12 36,046,091 (GRCm39) missense probably benign 0.03
R9031:Agr2 UTSW 12 36,045,565 (GRCm39) missense probably benign
R9063:Agr2 UTSW 12 36,053,898 (GRCm39) makesense probably null
R9259:Agr2 UTSW 12 36,053,863 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGATCAGCTCATCTGGACTCAG -3'
(R):5'- CACGAACACCAGGATTTCTTAC -3'

Sequencing Primer
(F):5'- GCTTTATACAGATCCAAGACAAGG -3'
(R):5'- ACACCAGGATTTCTTACACAAAATG -3'
Posted On 2019-10-17