Incidental Mutation 'IGL01019:Pdia2'
ID |
54058 |
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 # |
IGL01019
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26414973-26418061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26417896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 38
(G38W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000025020]
[ENSMUST00000039113]
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000120333]
[ENSMUST00000121959]
[ENSMUST00000122058]
[ENSMUST00000163421]
[ENSMUST00000176961]
|
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 |
probably benign
Transcript: ENSMUST00000025020
|
SMART Domains |
Protein: ENSMUSP00000025020 Gene: ENSMUSG00000024186
Domain | Start | End | E-Value | Type |
DEP
|
34 |
109 |
7.78e-17 |
SMART |
G_gamma
|
220 |
284 |
1.38e-19 |
SMART |
GGL
|
223 |
284 |
1.1e-26 |
SMART |
RGS
|
303 |
418 |
6.23e-47 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039113
AA Change: G38W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035584 Gene: ENSMUSG00000024184 AA Change: G38W
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 |
probably damaging
Transcript: ENSMUST00000120333
AA Change: G38W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114080 Gene: ENSMUSG00000024184 AA Change: G38W
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 |
unknown
Transcript: ENSMUST00000142410
AA Change: G29W
|
SMART Domains |
Protein: ENSMUSP00000115267 Gene: ENSMUSG00000024184 AA Change: G29W
Domain | Start | End | E-Value | Type |
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126464
|
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 |
probably benign
Transcript: ENSMUST00000122058
|
SMART Domains |
Protein: ENSMUSP00000113885 Gene: ENSMUSG00000024186
Domain | Start | End | E-Value | Type |
DEP
|
32 |
107 |
7.78e-17 |
SMART |
G_gamma
|
218 |
282 |
1.38e-19 |
SMART |
GGL
|
221 |
282 |
1.1e-26 |
SMART |
RGS
|
301 |
416 |
6.23e-47 |
SMART |
|
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 |
noncoding transcript
Transcript: ENSMUST00000176847
|
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 |
|
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
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 |
IGL02289:Pdia2
|
APN |
17 |
26,416,864 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
2013-06-28 |