Incidental Mutation 'R9175:Pdia4'
| ID |
696616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia4
|
| Ensembl Gene |
ENSMUSG00000025823 |
| Gene Name |
protein disulfide isomerase associated 4 |
| Synonyms |
Cai, ERp72, Erp72, U48620 |
| MMRRC Submission |
068948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47773075-47790364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 47775417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 464
(S464R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077290
AA Change: S464R
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: S464R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
57 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
59 |
163 |
4.1e-34 |
PFAM |
|
Pfam:Calsequestrin
|
165 |
388 |
5.2e-13 |
PFAM |
|
Pfam:Thioredoxin
|
174 |
278 |
3e-34 |
PFAM |
|
Pfam:Thioredoxin_6
|
308 |
500 |
5.9e-21 |
PFAM |
|
Pfam:Thioredoxin
|
522 |
630 |
5e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in platelets exhibit decreased platelet aggregation and increased bleeding time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,249,412 (GRCm39) |
D82N |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,593 (GRCm39) |
K4607E |
probably damaging |
Het |
| Agpat4 |
G |
C |
17: 12,417,669 (GRCm39) |
G70A |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,722,402 (GRCm39) |
T1017I |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,678,421 (GRCm39) |
I339V |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,296,644 (GRCm39) |
N1221Y |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,468,042 (GRCm39) |
S101P |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,968,968 (GRCm39) |
I442F |
probably damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,051 (GRCm39) |
M373K |
possibly damaging |
Het |
| Coch |
C |
A |
12: 51,645,060 (GRCm39) |
H205N |
possibly damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,560 (GRCm39) |
V88A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,601 (GRCm39) |
T35A |
probably benign |
Het |
| Gm28360 |
A |
T |
1: 117,781,328 (GRCm39) |
K106N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,256,657 (GRCm39) |
F1467L |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,499 (GRCm39) |
T18A |
|
Het |
| Iqcm |
A |
G |
8: 76,710,867 (GRCm39) |
K472E |
possibly damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,117 (GRCm39) |
V348D |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,169,801 (GRCm39) |
|
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,366,093 (GRCm39) |
D2787G |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,471,576 (GRCm39) |
C84R |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,671,362 (GRCm39) |
R24H |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,590 (GRCm39) |
D74G |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,360 (GRCm39) |
D1092G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,730,764 (GRCm39) |
K2763E |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,534,518 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
T |
19: 40,315,018 (GRCm39) |
L598Q |
probably damaging |
Het |
| Sppl2b |
A |
T |
10: 80,698,807 (GRCm39) |
M154L |
probably benign |
Het |
| Stk33 |
A |
G |
7: 108,920,724 (GRCm39) |
I331T |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,933,035 (GRCm39) |
E494G |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,112,052 (GRCm39) |
R1010Q |
possibly damaging |
Het |
| Tada1 |
G |
A |
1: 166,210,005 (GRCm39) |
R69H |
probably damaging |
Het |
| Tent4a |
A |
G |
13: 69,663,915 (GRCm39) |
L268P |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tomm34 |
A |
G |
2: 163,912,385 (GRCm39) |
|
probably null |
Het |
| Tpi1 |
T |
C |
6: 124,788,871 (GRCm39) |
T223A |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,709,279 (GRCm39) |
N399I |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,903,635 (GRCm39) |
H166R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,051 (GRCm39) |
I350F |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,212 (GRCm39) |
K440M |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,385,793 (GRCm39) |
Y729C |
possibly damaging |
Het |
| Zfp106 |
G |
T |
2: 120,353,197 (GRCm39) |
A1554E |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,169,997 (GRCm39) |
Y176C |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,822,941 (GRCm39) |
N470K |
probably benign |
Het |
|
| Other mutations in Pdia4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01882:Pdia4
|
APN |
6 |
47,780,412 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02207:Pdia4
|
APN |
6 |
47,773,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02456:Pdia4
|
APN |
6 |
47,780,429 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0078:Pdia4
|
UTSW |
6 |
47,775,344 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0501:Pdia4
|
UTSW |
6 |
47,777,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Pdia4
|
UTSW |
6 |
47,783,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1243:Pdia4
|
UTSW |
6 |
47,784,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Pdia4
|
UTSW |
6 |
47,776,133 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1830:Pdia4
|
UTSW |
6 |
47,773,695 (GRCm39) |
nonsense |
probably null |
|
|
R1853:Pdia4
|
UTSW |
6 |
47,790,161 (GRCm39) |
missense |
unknown |
|
|
R1854:Pdia4
|
UTSW |
6 |
47,790,161 (GRCm39) |
missense |
unknown |
|
|
R1951:Pdia4
|
UTSW |
6 |
47,780,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Pdia4
|
UTSW |
6 |
47,773,589 (GRCm39) |
missense |
probably benign |
|
|
R2126:Pdia4
|
UTSW |
6 |
47,773,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Pdia4
|
UTSW |
6 |
47,775,341 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2351:Pdia4
|
UTSW |
6 |
47,773,848 (GRCm39) |
splice site |
probably null |
|
|
R2415:Pdia4
|
UTSW |
6 |
47,783,490 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4375:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Pdia4
|
UTSW |
6 |
47,773,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5250:Pdia4
|
UTSW |
6 |
47,773,619 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5339:Pdia4
|
UTSW |
6 |
47,773,619 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5432:Pdia4
|
UTSW |
6 |
47,775,400 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5541:Pdia4
|
UTSW |
6 |
47,773,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Pdia4
|
UTSW |
6 |
47,792,446 (GRCm39) |
unclassified |
probably benign |
|
|
R5873:Pdia4
|
UTSW |
6 |
47,785,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Pdia4
|
UTSW |
6 |
47,777,952 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7187:Pdia4
|
UTSW |
6 |
47,790,193 (GRCm39) |
missense |
unknown |
|
|
R7231:Pdia4
|
UTSW |
6 |
47,777,891 (GRCm39) |
missense |
probably benign |
|
|
R7791:Pdia4
|
UTSW |
6 |
47,784,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Pdia4
|
UTSW |
6 |
47,773,575 (GRCm39) |
nonsense |
probably null |
|
|
R8726:Pdia4
|
UTSW |
6 |
47,785,200 (GRCm39) |
nonsense |
probably null |
|
|
R8754:Pdia4
|
UTSW |
6 |
47,773,464 (GRCm39) |
missense |
probably benign |
|
|
R9022:Pdia4
|
UTSW |
6 |
47,785,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF033:Pdia4
|
UTSW |
6 |
47,785,222 (GRCm39) |
small deletion |
probably benign |
|
|
RF042:Pdia4
|
UTSW |
6 |
47,785,240 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAGTCCTTTGCTGGCTCG -3'
(R):5'- CGTCAGTGTCAGAATCTTGAATCTC -3'
Sequencing Primer
(F):5'- TCGGAAGCTTCGGAGTGTCAC -3'
(R):5'- GAATCTTGAATCTCACAGTCCAGGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation