Incidental Mutation 'R5455:Pdia2'
| ID |
501064 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26414973-26418061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26416137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 310
(Q310P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035584
(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 |
probably null
Transcript: ENSMUST00000039113
AA Change: Q310P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
AA Change: Q310P
| 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
AA Change: Q307P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
AA Change: Q307P
| 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 |
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: ENSMUST00000155556
|
| 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: 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
| Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
| Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
| Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
| Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
| Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
| Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
| Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
| Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
| Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
| Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
| Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
probably benign |
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 |
|
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'- ATTGATCAGACGCAGGGTGG -3'
(R):5'- CCCTTAAGAGGTGTGAGGCTTG -3'
Sequencing Primer
(F):5'- AGGGTGGGGGCTTCCTC -3'
(R):5'- TGGATGGGAGCCCTCAAAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation