Incidental Mutation 'R3950:Pdia2'
| ID |
307901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia2
|
| Ensembl Gene |
ENSMUSG00000024184 |
| Gene Name |
protein disulfide isomerase associated 2 |
| Synonyms |
Pdip, 1810041F13Rik, Pdipl |
| MMRRC Submission |
040930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R3950 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26414973-26418061 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 26416590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000039113]
[ENSMUST00000039113]
[ENSMUST00000074370]
[ENSMUST00000118904]
[ENSMUST00000120333]
[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 |
probably null
Transcript: ENSMUST00000039113
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
| 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 null
Transcript: ENSMUST00000039113
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
| 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 null
Transcript: ENSMUST00000120333
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
| 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 null
Transcript: ENSMUST00000120333
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
| 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 null
Transcript: ENSMUST00000142410
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142410
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000176847
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
| Appbp2 |
A |
G |
11: 85,085,532 (GRCm39) |
I458T |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,021,013 (GRCm39) |
Y291C |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| B4galt4 |
G |
T |
16: 38,588,384 (GRCm39) |
A72S |
probably benign |
Het |
| C3 |
T |
C |
17: 57,532,286 (GRCm39) |
R178G |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Col11a1 |
T |
C |
3: 113,915,094 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,849,207 (GRCm39) |
F294L |
possibly damaging |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,112,061 (GRCm39) |
Y276* |
probably null |
Het |
| Eea1 |
A |
T |
10: 95,877,996 (GRCm39) |
N1389I |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,247,419 (GRCm39) |
K219* |
probably null |
Het |
| Fsd1 |
G |
A |
17: 56,302,517 (GRCm39) |
|
probably null |
Het |
| Haspin |
A |
G |
11: 73,027,221 (GRCm39) |
Y623H |
probably damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,763,454 (GRCm39) |
V56M |
possibly damaging |
Het |
| Hyou1 |
C |
T |
9: 44,296,524 (GRCm39) |
T483I |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,393,260 (GRCm39) |
L365S |
possibly damaging |
Het |
| Kdm6b |
G |
T |
11: 69,296,441 (GRCm39) |
P609T |
probably damaging |
Het |
| Klhl18 |
T |
A |
9: 110,257,970 (GRCm39) |
Y490F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,627 (GRCm39) |
Q545* |
probably null |
Het |
| L1td1 |
T |
C |
4: 98,625,590 (GRCm39) |
L595P |
probably benign |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,855,489 (GRCm39) |
V941E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,794,408 (GRCm39) |
I740K |
possibly damaging |
Het |
| Npepl1 |
A |
G |
2: 173,962,906 (GRCm39) |
N431D |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 167,941,114 (GRCm39) |
T367I |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,568 (GRCm39) |
E525G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,865,586 (GRCm39) |
S199P |
probably damaging |
Het |
| Pif1 |
C |
A |
9: 65,499,116 (GRCm39) |
N445K |
probably damaging |
Het |
| Prickle4 |
T |
C |
17: 47,999,507 (GRCm39) |
K349E |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,742,670 (GRCm39) |
M173K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,500,102 (GRCm39) |
L515P |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,590,877 (GRCm39) |
K154E |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,942,484 (GRCm39) |
V2059I |
probably damaging |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,689,484 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Slc25a28 |
C |
T |
19: 43,652,708 (GRCm39) |
V318I |
probably benign |
Het |
| Srek1 |
G |
A |
13: 103,881,403 (GRCm39) |
R408W |
unknown |
Het |
| Synrg |
C |
T |
11: 83,880,641 (GRCm39) |
T444I |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Tmem127 |
T |
C |
2: 127,090,577 (GRCm39) |
L31P |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,870,074 (GRCm39) |
T190S |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,560,411 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,696,292 (GRCm39) |
Y31C |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,661,729 (GRCm39) |
H1718L |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,599 (GRCm39) |
F495S |
probably damaging |
Het |
| Zfp280d |
G |
T |
9: 72,203,301 (GRCm39) |
Q16H |
possibly damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,403 (GRCm39) |
S337P |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,995,503 (GRCm39) |
T218S |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACCAGGTGCATGCTATG -3'
(R):5'- ACTGATGGCCAAATGGGATATG -3'
Sequencing Primer
(F):5'- ACCAGGTGCATGCTATGTATGAC -3'
(R):5'- ACAGTGCTGGTAGGCATCCATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation