Incidental Mutation 'IGL01284:Agr2'
| ID |
72654 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agr2
|
| Ensembl Gene |
ENSMUSG00000020581 |
| Gene Name |
anterior gradient 2 |
| Synonyms |
mAG-2, HAG-2, XAG-2, Gob-4 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.634)
|
| Stock # |
IGL01284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
36042924-36054080 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36045580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 22
(D22G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020898]
|
| AlphaFold |
O88312 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020898
AA Change: D22G
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020898
Gene: ENSMUSG00000020581
AA Change: D22G
| Domain | Start | End | E-Value | Type |
|---|
|
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
| C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
| Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
| Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
| Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
| Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
| Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
probably damaging |
Het |
|
| Other mutations in Agr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation