Incidental Mutation 'R0553:Pdia2'
| ID |
45302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia2
|
| Ensembl Gene |
ENSMUSG00000024184 |
| Gene Name |
protein disulfide isomerase associated 2 |
| Synonyms |
Pdipl, 1810041F13Rik, Pdip |
| MMRRC Submission |
038745-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R0553 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26195999-26199087 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26196243 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 504
(E504G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000039113]
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000120333]
[ENSMUST00000121959]
[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 |
possibly damaging
Transcript: ENSMUST00000039113
AA Change: E507G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
AA Change: E507G
| 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: E504G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
AA Change: E504G
| 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 |
probably benign
Transcript: ENSMUST00000142410
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148134
AA Change: E133G
|
| SMART Domains |
Protein: ENSMUSP00000116340
Gene: ENSMUSG00000024184
AA Change: E133G
| 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: ENSMUST00000155556
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000176847
|
| 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 |
|
| Meta Mutation Damage Score |
0.0927 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3632451O06Rik |
T |
C |
14: 49,682,686 |
I729V |
probably damaging |
Het |
| 9530002B09Rik |
A |
T |
4: 122,702,335 |
M120L |
unknown |
Het |
| Adamts13 |
T |
A |
2: 26,991,334 |
C774* |
probably null |
Het |
| Amh |
A |
G |
10: 80,806,176 |
|
probably benign |
Het |
| Ccdc173 |
C |
A |
2: 69,789,441 |
R8L |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 165,070,741 |
R204Q |
probably benign |
Het |
| Clhc1 |
A |
C |
11: 29,561,366 |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,356,851 |
R67C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,203,584 |
H973L |
unknown |
Het |
| Fut2 |
T |
A |
7: 45,651,274 |
I25F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,552,430 |
|
probably benign |
Het |
| Gm438 |
T |
A |
4: 144,777,415 |
I389L |
possibly damaging |
Het |
| Gm7534 |
T |
C |
4: 134,202,518 |
T159A |
possibly damaging |
Het |
| Gm8909 |
G |
T |
17: 36,168,057 |
P100Q |
probably damaging |
Het |
| Gmppb |
A |
T |
9: 108,049,797 |
M56L |
probably benign |
Het |
| Grm3 |
C |
A |
5: 9,570,048 |
A399S |
probably benign |
Het |
| Hey2 |
G |
A |
10: 30,840,489 |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,275,842 |
|
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,137,673 |
C92F |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,555,298 |
D229G |
probably damaging |
Het |
| Klf11 |
C |
G |
12: 24,655,090 |
P164R |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,670,210 |
R5Q |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,251,803 |
V6A |
probably benign |
Het |
| Ltbr |
A |
C |
6: 125,313,388 |
|
probably null |
Het |
| Mmp17 |
T |
G |
5: 129,598,670 |
S298A |
probably benign |
Het |
| Nacc2 |
T |
A |
2: 26,089,590 |
E278V |
possibly damaging |
Het |
| Olfr175-ps1 |
A |
T |
16: 58,824,155 |
Y185N |
probably damaging |
Het |
| Olfr875 |
T |
A |
9: 37,773,331 |
I224N |
probably benign |
Het |
| Otop2 |
C |
T |
11: 115,329,462 |
A376V |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 58,922,727 |
V979M |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,509,477 |
K86R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,710,627 |
F269L |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,211,712 |
C659* |
probably null |
Het |
| Rnf8 |
T |
C |
17: 29,621,639 |
|
probably null |
Het |
| Rras |
T |
G |
7: 45,020,556 |
I137M |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,714,198 |
H372L |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 75,977,779 |
|
probably null |
Het |
| Tas2r115 |
T |
C |
6: 132,737,959 |
T10A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,798,893 |
E12621G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,506,669 |
I460F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 54,693,096 |
A90T |
possibly damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,451,997 |
A293V |
possibly damaging |
Het |
|
| Other mutations in Pdia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Pdia2
|
APN |
17 |
26198116 |
missense |
probably damaging |
0.98 |
|
IGL01019:Pdia2
|
APN |
17 |
26198922 |
missense |
probably damaging |
1.00 |
|
IGL02289:Pdia2
|
APN |
17 |
26197890 |
missense |
possibly damaging |
0.66 |
|
IGL02725:Pdia2
|
APN |
17 |
26196532 |
missense |
probably benign |
0.05 |
|
Feline
|
UTSW |
17 |
26198868 |
missense |
probably benign |
0.00 |
|
Hongry
|
UTSW |
17 |
26197660 |
missense |
possibly damaging |
0.72 |
|
Ravenous
|
UTSW |
17 |
26196521 |
missense |
probably damaging |
1.00 |
|
R0988:Pdia2
|
UTSW |
17 |
26198829 |
missense |
probably damaging |
1.00 |
|
R1624:Pdia2
|
UTSW |
17 |
26196521 |
missense |
probably damaging |
1.00 |
|
R1917:Pdia2
|
UTSW |
17 |
26198105 |
missense |
possibly damaging |
0.82 |
|
R3950:Pdia2
|
UTSW |
17 |
26197616 |
critical splice donor site |
probably null |
|
|
R4583:Pdia2
|
UTSW |
17 |
26196502 |
missense |
probably damaging |
1.00 |
|
R5455:Pdia2
|
UTSW |
17 |
26197163 |
missense |
probably null |
0.99 |
|
R6841:Pdia2
|
UTSW |
17 |
26196604 |
splice site |
probably null |
|
|
R6889:Pdia2
|
UTSW |
17 |
26196970 |
nonsense |
probably null |
|
|
R7312:Pdia2
|
UTSW |
17 |
26197660 |
missense |
possibly damaging |
0.72 |
|
R7743:Pdia2
|
UTSW |
17 |
26198868 |
missense |
probably benign |
0.00 |
|
R7897:Pdia2
|
UTSW |
17 |
26198233 |
missense |
probably benign |
|
|
R8518:Pdia2
|
UTSW |
17 |
26198170 |
nonsense |
probably null |
|
|
R9187:Pdia2
|
UTSW |
17 |
26196936 |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGTCCCAATGGCTACAGCTC -3'
(R):5'- TCCAGCTAGTCAAGCTGACTTCTCC -3'
Sequencing Primer
(F):5'- ACAGCTCCTCCTTGGGAC -3'
(R):5'- TTGGATGCTACAGCTAATGAGC -3'
|
| Posted On |
2013-06-11 |
