Incidental Mutation 'IGL02081:Agr2'
| ID |
192604 |
| 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: 0.504)
|
| Stock # |
IGL02081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
36042924-36054080 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 36045655 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
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
G |
T |
8: 44,023,233 (GRCm39) |
L86I |
probably damaging |
Het |
| Adamts17 |
C |
T |
7: 66,711,858 (GRCm39) |
R726C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,982,171 (GRCm39) |
K778R |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,597,285 (GRCm39) |
C1173S |
possibly damaging |
Het |
| Apol7b |
A |
G |
15: 77,307,736 (GRCm39) |
L253P |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,604 (GRCm39) |
T1268S |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,765,258 (GRCm39) |
K1149N |
probably damaging |
Het |
| Bri3bp |
G |
A |
5: 125,518,961 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Cyp4a10 |
G |
A |
4: 115,378,369 (GRCm39) |
A152T |
possibly damaging |
Het |
| Dock2 |
C |
T |
11: 34,204,355 (GRCm39) |
D1396N |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,936,842 (GRCm39) |
Y634* |
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,723,930 (GRCm39) |
K529E |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,684 (GRCm39) |
D58G |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,239,332 (GRCm39) |
D776G |
possibly damaging |
Het |
| Il18r1 |
A |
T |
1: 40,537,665 (GRCm39) |
S477C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,523,281 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
G |
10: 67,055,305 (GRCm39) |
F242V |
probably benign |
Het |
| Krtap4-1 |
G |
A |
11: 99,519,010 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,418 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,254,106 (GRCm39) |
T1009A |
probably damaging |
Het |
| Mrpl22 |
T |
C |
11: 58,062,647 (GRCm39) |
I19T |
probably benign |
Het |
| Nup88 |
A |
G |
11: 70,845,480 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
T |
19: 12,652,180 (GRCm39) |
I204F |
probably benign |
Het |
| Pnpo |
T |
C |
11: 96,830,150 (GRCm39) |
Y183C |
probably damaging |
Het |
| Poln |
C |
T |
5: 34,286,483 (GRCm39) |
M228I |
probably benign |
Het |
| Scara5 |
T |
C |
14: 65,968,104 (GRCm39) |
W126R |
possibly damaging |
Het |
| Scmh1 |
T |
G |
4: 120,372,275 (GRCm39) |
C359W |
probably damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,194 (GRCm39) |
I41V |
possibly damaging |
Het |
| St8sia1 |
T |
C |
6: 142,774,953 (GRCm39) |
M209V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,495,391 (GRCm39) |
S89T |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,649,597 (GRCm39) |
T1667A |
probably damaging |
Het |
| Tmem217 |
C |
T |
17: 29,745,347 (GRCm39) |
G128S |
probably damaging |
Het |
| Ttpal |
A |
G |
2: 163,457,308 (GRCm39) |
N260S |
probably benign |
Het |
| Vwa2 |
A |
G |
19: 56,890,668 (GRCm39) |
D233G |
probably benign |
Het |
| Wdr83 |
A |
G |
8: 85,802,472 (GRCm39) |
F258L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,795 (GRCm39) |
L354* |
probably null |
Het |
| Zfp516 |
A |
G |
18: 82,973,858 (GRCm39) |
R19G |
probably benign |
Het |
|
| Other mutations in Agr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Agr2
|
APN |
12 |
36,045,580 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
2014-05-14 |
Incidental Mutation