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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |