Incidental Mutation 'R7897:Pdia2'
| ID |
609779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia2
|
| Ensembl Gene |
ENSMUSG00000024184 |
| Gene Name |
protein disulfide isomerase associated 2 |
| Synonyms |
Pdip, 1810041F13Rik, Pdipl |
| MMRRC Submission |
045949-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R7897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26414973-26418061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26417207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 79
(E79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035584
(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 benign
Transcript: ENSMUST00000039113
AA Change: E79G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
AA Change: E79G
| 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 benign
Transcript: ENSMUST00000120333
AA Change: E79G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
AA Change: E79G
| 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: 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| 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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
TGTTGATCCATA |
T |
2: 69,154,216 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,634,999 (GRCm39) |
T335A |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,036,657 (GRCm39) |
Y245H |
probably benign |
Het |
| Afm |
G |
A |
5: 90,695,727 (GRCm39) |
M411I |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,554,169 (GRCm39) |
N650S |
possibly damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,311,232 (GRCm39) |
R101G |
probably benign |
Het |
| Armcx5 |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
X: 134,646,453 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,215,284 (GRCm39) |
Q1151R |
|
Het |
| Bcl9 |
A |
G |
3: 97,112,567 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Bsn |
A |
C |
9: 107,989,065 (GRCm39) |
M2229R |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,514,351 (GRCm39) |
V529A |
|
Het |
| Clip1 |
C |
T |
5: 123,760,861 (GRCm39) |
V767M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,766,382 (GRCm39) |
I1846T |
possibly damaging |
Het |
| Crisp1 |
A |
T |
17: 40,618,656 (GRCm39) |
D68E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 17,584,935 (GRCm39) |
L19Q |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,968,931 (GRCm39) |
I892T |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,889,061 (GRCm39) |
Y4159F |
probably benign |
Het |
| Elavl3 |
G |
A |
9: 21,929,846 (GRCm39) |
R353C |
probably damaging |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fbxo3 |
A |
G |
2: 103,883,757 (GRCm39) |
D327G |
possibly damaging |
Het |
| Galr1 |
T |
C |
18: 82,424,256 (GRCm39) |
N7S |
probably benign |
Het |
| Glyatl3 |
T |
C |
17: 41,215,802 (GRCm39) |
T235A |
probably damaging |
Het |
| Gm5145 |
A |
C |
17: 20,790,967 (GRCm39) |
Q115P |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,069 (GRCm39) |
S1202P |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Jmjd1c |
A |
G |
10: 67,075,644 (GRCm39) |
N1837S |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,516,136 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,715,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Kcne3 |
C |
G |
7: 99,833,520 (GRCm39) |
R46G |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,722,934 (GRCm39) |
D842G |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,386,219 (GRCm39) |
I4F |
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,854,235 (GRCm39) |
I525N |
probably benign |
Het |
| Krtap31-1 |
T |
C |
11: 99,798,949 (GRCm39) |
C51R |
possibly damaging |
Het |
| Ms4a12 |
C |
T |
19: 11,207,723 (GRCm39) |
G61D |
possibly damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,400 (GRCm39) |
N115D |
|
Het |
| Nudt16l2 |
A |
C |
9: 105,021,709 (GRCm39) |
Y112* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,289,827 (GRCm39) |
Y882C |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,244,202 (GRCm39) |
H79L |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,590,167 (GRCm39) |
F90L |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,741,726 (GRCm39) |
T407S |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,724,827 (GRCm39) |
F2361L |
possibly damaging |
Het |
| Pla2g12b |
A |
T |
10: 59,246,816 (GRCm39) |
R77* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,655,399 (GRCm39) |
Y322C |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,341,108 (GRCm39) |
Q382R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,484 (GRCm39) |
V270A |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,695,838 (GRCm39) |
E1431G |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,764,027 (GRCm39) |
I253T |
possibly damaging |
Het |
| Sox9 |
A |
C |
11: 112,675,635 (GRCm39) |
I275L |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,758,058 (GRCm39) |
I284V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,171,860 (GRCm39) |
D896G |
unknown |
Het |
| Usp48 |
A |
T |
4: 137,371,739 (GRCm39) |
H955L |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,213,307 (GRCm39) |
I30T |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,366,096 (GRCm39) |
R59* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,783,332 (GRCm39) |
D1169E |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,525,448 (GRCm39) |
Y390N |
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 |
|
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 |
|
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'- ACACCTGTGTACTTGCCCAC -3'
(R):5'- GGAAACAGGATTCTTGTCTTTGTC -3'
Sequencing Primer
(F):5'- GTACCTGCGTACTCTTCTGGG -3'
(R):5'- TTGTCTGGGATCTGGCACCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation