Incidental Mutation 'R6196:Agr2'
ID 502938
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 044336-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R6196 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 36042924-36054080 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 36045591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 26 (K26*)
Ref Sequence ENSEMBL: ENSMUSP00000020898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020898]
AlphaFold O88312
Predicted Effect probably null
Transcript: ENSMUST00000020898
AA Change: K26*
SMART Domains Protein: ENSMUSP00000020898
Gene: ENSMUSG00000020581
AA Change: K26*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin_7 53 133 1.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147861
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (55/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,436,554 (GRCm39) H241L possibly damaging Het
Acap1 T C 11: 69,777,893 (GRCm39) D115G probably damaging Het
Acvr2b T C 9: 119,262,469 (GRCm39) V510A possibly damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aox4 T A 1: 58,256,685 (GRCm39) I69N probably damaging Het
Asb4 G A 6: 5,390,699 (GRCm39) G31R probably benign Het
Atp6v1c2 C A 12: 17,351,187 (GRCm39) E105* probably null Het
Bend6 A G 1: 33,917,509 (GRCm39) Y44H probably damaging Het
Bltp3b T G 10: 89,641,195 (GRCm39) S789A probably benign Het
Btn2a2 C T 13: 23,672,015 (GRCm39) V25M possibly damaging Het
Cab39l T A 14: 59,737,039 (GRCm39) L53Q probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Cdc14b C T 13: 64,353,338 (GRCm39) probably benign Het
Cenpu A G 8: 47,015,615 (GRCm39) R177G probably benign Het
Chit1 C A 1: 134,074,381 (GRCm39) Y229* probably null Het
Crybg2 C A 4: 133,808,450 (GRCm39) S1350R probably damaging Het
Ctdspl2 A G 2: 121,809,373 (GRCm39) probably null Het
Ctsr A T 13: 61,308,345 (GRCm39) H266Q probably benign Het
Dynlt5 A G 4: 102,849,766 (GRCm39) E63G possibly damaging Het
Efcab3 T G 11: 104,746,386 (GRCm39) I2279S probably benign Het
Extl3 T A 14: 65,313,584 (GRCm39) M533L probably benign Het
Fam162b C A 10: 51,463,506 (GRCm39) probably null Het
Fbxo28 T C 1: 182,157,454 (GRCm39) K121R probably damaging Het
Fsip2 A C 2: 82,820,227 (GRCm39) E5320A possibly damaging Het
Galc A T 12: 98,225,421 (GRCm39) D56E probably damaging Het
Gm5468 A G 15: 25,414,481 (GRCm39) probably benign Het
Hk1 T A 10: 62,135,038 (GRCm39) H24L probably damaging Het
Igkv5-43 A G 6: 69,752,965 (GRCm39) V39A possibly damaging Het
Lemd2 G A 17: 27,411,976 (GRCm39) Q439* probably null Het
Lgi1 A G 19: 38,294,257 (GRCm39) N295S probably benign Het
Macc1 T G 12: 119,409,785 (GRCm39) S184R probably damaging Het
Msmo1 A G 8: 65,180,918 (GRCm39) probably benign Het
Muc5b C A 7: 141,405,333 (GRCm39) R914S unknown Het
Or10d1 G A 9: 39,483,776 (GRCm39) P260S possibly damaging Het
Or1e16 G A 11: 73,286,299 (GRCm39) A183V probably benign Het
Or1e17 G A 11: 73,831,635 (GRCm39) A188T possibly damaging Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Or5b110-ps1 A G 19: 13,260,290 (GRCm39) I44T probably benign Het
Plekha5 T C 6: 140,525,179 (GRCm39) S14P probably benign Het
Pus10 A G 11: 23,622,638 (GRCm39) K86R probably benign Het
Rab37 T C 11: 115,051,132 (GRCm39) V147A probably benign Het
Sin3a T A 9: 57,011,213 (GRCm39) I490N probably damaging Het
Slc27a4 A G 2: 29,695,762 (GRCm39) D99G probably benign Het
Slc43a2 C T 11: 75,459,206 (GRCm39) R413* probably null Het
Syna G T 5: 134,588,466 (GRCm39) T161N probably benign Het
T A G 17: 8,655,996 (GRCm39) D86G possibly damaging Het
Tanc1 G A 2: 59,674,366 (GRCm39) E1817K possibly damaging Het
Tap2 C A 17: 34,433,384 (GRCm39) Q516K possibly damaging Het
Tcaf1 A T 6: 42,653,741 (GRCm39) D717E probably damaging Het
Tcf20 G T 15: 82,736,187 (GRCm39) Q1755K possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trpm7 G A 2: 126,667,559 (GRCm39) P811S possibly damaging Het
Vmn2r59 A G 7: 41,661,679 (GRCm39) V712A probably benign Het
Vwc2l T A 1: 70,768,180 (GRCm39) D34E probably damaging Het
Wdr35 A G 12: 9,077,632 (GRCm39) K1091E 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
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
R7533:Agr2 UTSW 12 36,046,128 (GRCm39) critical splice donor site probably null
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'- GCCTGGTGTCTGATCTCAATG -3'
(R):5'- ACCTGCTGAGCCTGGATAATAG -3'

Sequencing Primer
(F):5'- GGTGTCTGATCTCAATGCCACC -3'
(R):5'- CTGCTGAGCCTGGATAATAGATACTC -3'
Posted On 2018-02-27