Incidental Mutation 'IGL02289:Pdia2'
| ID |
290027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdia2
|
| Ensembl Gene |
ENSMUSG00000024184 |
| Gene Name |
protein disulfide isomerase associated 2 |
| Synonyms |
Pdip, 1810041F13Rik, Pdipl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL02289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26414973-26418061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26416864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 164
(E164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000039113]
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000120333]
[ENSMUST00000121959]
[ENSMUST00000176961]
[ENSMUST00000163421]
|
| AlphaFold |
D3Z6P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025019
|
| SMART Domains |
Protein: ENSMUSP00000025019
Gene: ENSMUSG00000073433
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
Pfam:Rho_GDI
|
29 |
222 |
1.2e-60 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039113
AA Change: E164G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
AA Change: E164G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
46 |
153 |
1.5e-26 |
PFAM |
|
Pfam:Thioredoxin_6
|
182 |
369 |
3.2e-37 |
PFAM |
|
Pfam:Thioredoxin
|
392 |
497 |
2.4e-27 |
PFAM |
|
low complexity region
|
501 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074370
|
| SMART Domains |
Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AXIN1_TNKS_BD
|
13 |
85 |
7.5e-27 |
PFAM |
|
RGS
|
93 |
216 |
3.03e-36 |
SMART |
|
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
432 |
N/A |
INTRINSIC |
|
Pfam:Axin_b-cat_bind
|
468 |
523 |
3.2e-13 |
PFAM |
|
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
727 |
N/A |
INTRINSIC |
|
DAX
|
786 |
868 |
5.92e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118904
|
| SMART Domains |
Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
93 |
216 |
3.03e-36 |
SMART |
|
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
432 |
N/A |
INTRINSIC |
|
Pfam:Axin_b-cat_bind
|
468 |
502 |
1.2e-18 |
PFAM |
|
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
709 |
N/A |
INTRINSIC |
|
coiled coil region
|
712 |
734 |
N/A |
INTRINSIC |
|
DAX
|
750 |
832 |
5.92e-45 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120333
AA Change: E164G
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
AA Change: E164G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
46 |
153 |
2.6e-27 |
PFAM |
|
Pfam:Thioredoxin_6
|
181 |
366 |
2e-37 |
PFAM |
|
Pfam:Thioredoxin
|
389 |
494 |
7.2e-28 |
PFAM |
|
low complexity region
|
498 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121959
|
| SMART Domains |
Protein: ENSMUSP00000113186
Gene: ENSMUSG00000073433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
14 |
197 |
6.4e-65 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142410
AA Change: E155G
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
AA Change: E155G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148134
|
| SMART Domains |
Protein: ENSMUSP00000116340
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
19 |
124 |
2e-28 |
PFAM |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176961
|
| SMART Domains |
Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
14 |
222 |
1.9e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163421
|
| SMART Domains |
Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
93 |
216 |
3.03e-36 |
SMART |
|
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
432 |
N/A |
INTRINSIC |
|
Pfam:Axin_b-cat_bind
|
468 |
502 |
1.2e-18 |
PFAM |
|
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
709 |
N/A |
INTRINSIC |
|
coiled coil region
|
712 |
734 |
N/A |
INTRINSIC |
|
DAX
|
750 |
832 |
5.92e-45 |
SMART |
|
| 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, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,457,424 (GRCm39) |
V230E |
probably damaging |
Het |
| Dnajc10 |
C |
A |
2: 80,170,870 (GRCm39) |
H454N |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,787,832 (GRCm39) |
W901* |
probably null |
Het |
| Eeig1 |
A |
T |
2: 32,456,367 (GRCm39) |
Q343L |
possibly damaging |
Het |
| Frk |
A |
C |
10: 34,360,362 (GRCm39) |
E121A |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,380,785 (GRCm39) |
|
probably null |
Het |
| Matn1 |
A |
T |
4: 130,679,146 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,160,977 (GRCm39) |
L554P |
probably damaging |
Het |
| Or2b7 |
C |
T |
13: 21,739,758 (GRCm39) |
V145I |
probably benign |
Het |
| Or8k32 |
A |
T |
2: 86,368,792 (GRCm39) |
F156I |
probably benign |
Het |
| Or8k37 |
A |
G |
2: 86,469,863 (GRCm39) |
L63P |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,319,496 (GRCm39) |
G582D |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,796,720 (GRCm39) |
V110E |
possibly damaging |
Het |
| Trim42 |
G |
A |
9: 97,241,286 (GRCm39) |
R649C |
probably damaging |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,054 (GRCm39) |
I695F |
probably damaging |
Het |
|
| Other mutations in Pdia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Pdia2
|
APN |
17 |
26,417,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01019:Pdia2
|
APN |
17 |
26,417,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:Pdia2
|
APN |
17 |
26,415,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
Feline
|
UTSW |
17 |
26,417,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
Hongry
|
UTSW |
17 |
26,416,634 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Ravenous
|
UTSW |
17 |
26,415,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0553:Pdia2
|
UTSW |
17 |
26,415,217 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0988:Pdia2
|
UTSW |
17 |
26,417,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Pdia2
|
UTSW |
17 |
26,415,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Pdia2
|
UTSW |
17 |
26,417,079 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3950:Pdia2
|
UTSW |
17 |
26,416,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4583:Pdia2
|
UTSW |
17 |
26,415,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Pdia2
|
UTSW |
17 |
26,416,137 (GRCm39) |
missense |
probably null |
0.99 |
|
R6841:Pdia2
|
UTSW |
17 |
26,415,578 (GRCm39) |
splice site |
probably null |
|
|
R6889:Pdia2
|
UTSW |
17 |
26,415,944 (GRCm39) |
nonsense |
probably null |
|
|
R7312:Pdia2
|
UTSW |
17 |
26,416,634 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7743:Pdia2
|
UTSW |
17 |
26,417,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7897:Pdia2
|
UTSW |
17 |
26,417,207 (GRCm39) |
missense |
probably benign |
|
|
R8518:Pdia2
|
UTSW |
17 |
26,417,144 (GRCm39) |
nonsense |
probably null |
|
|
R9187:Pdia2
|
UTSW |
17 |
26,415,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9449:Pdia2
|
UTSW |
17 |
26,416,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation