Incidental Mutation 'R5581:Pdia5'
ID |
438476 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdia5
|
Ensembl Gene |
ENSMUSG00000022844 |
Gene Name |
protein disulfide isomerase associated 5 |
Synonyms |
Pdir, 2700053F16Rik |
MMRRC Submission |
043135-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R5581 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35217682-35311243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35269812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 166
(R166G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023550]
|
AlphaFold |
Q921X9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023550
AA Change: R166G
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023550 Gene: ENSMUSG00000022844 AA Change: R166G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
PDB:4I6X|A
|
27 |
148 |
3e-77 |
PDB |
Pfam:Thioredoxin
|
151 |
257 |
3.8e-21 |
PFAM |
Pfam:Thioredoxin
|
275 |
380 |
6.2e-26 |
PFAM |
Pfam:Thioredoxin_7
|
277 |
366 |
4.8e-9 |
PFAM |
Pfam:Thioredoxin_2
|
288 |
377 |
7e-10 |
PFAM |
Pfam:AhpC-TSA
|
396 |
494 |
1.1e-6 |
PFAM |
Pfam:Thioredoxin
|
396 |
502 |
1.3e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231595
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Appbp2 |
G |
C |
11: 85,100,921 (GRCm39) |
R173G |
possibly damaging |
Het |
Bcl11a |
A |
G |
11: 24,113,932 (GRCm39) |
K425R |
probably damaging |
Het |
Casr |
A |
G |
16: 36,315,106 (GRCm39) |
M911T |
probably benign |
Het |
Cdon |
C |
T |
9: 35,415,377 (GRCm39) |
A1205V |
probably benign |
Het |
Chfr |
T |
C |
5: 110,301,148 (GRCm39) |
|
probably null |
Het |
Dixdc1 |
A |
G |
9: 50,580,780 (GRCm39) |
L638P |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,727,042 (GRCm39) |
V526M |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,828,472 (GRCm39) |
D6756E |
possibly damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Lvrn |
A |
G |
18: 47,023,932 (GRCm39) |
T760A |
probably benign |
Het |
Myh7 |
T |
A |
14: 55,216,411 (GRCm39) |
M1256L |
probably benign |
Het |
Ndufb11b |
T |
C |
15: 81,865,037 (GRCm39) |
S93P |
probably damaging |
Het |
Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
Plcz1 |
A |
G |
6: 139,968,851 (GRCm39) |
Y196H |
probably damaging |
Het |
Ptpn12 |
T |
A |
5: 21,220,724 (GRCm39) |
E135D |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,743,294 (GRCm39) |
D191G |
probably benign |
Het |
Slit1 |
A |
G |
19: 41,605,102 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
G |
12: 75,991,859 (GRCm39) |
D1941E |
probably benign |
Het |
Thsd4 |
C |
A |
9: 59,879,741 (GRCm39) |
A639S |
possibly damaging |
Het |
|
Other mutations in Pdia5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0334:Pdia5
|
UTSW |
16 |
35,284,760 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0468:Pdia5
|
UTSW |
16 |
35,217,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Pdia5
|
UTSW |
16 |
35,276,883 (GRCm39) |
missense |
probably benign |
0.00 |
R4898:Pdia5
|
UTSW |
16 |
35,230,786 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5241:Pdia5
|
UTSW |
16 |
35,250,145 (GRCm39) |
missense |
probably benign |
0.00 |
R5410:Pdia5
|
UTSW |
16 |
35,273,906 (GRCm39) |
missense |
probably damaging |
0.99 |
R5811:Pdia5
|
UTSW |
16 |
35,269,790 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5898:Pdia5
|
UTSW |
16 |
35,243,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R6047:Pdia5
|
UTSW |
16 |
35,217,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R6278:Pdia5
|
UTSW |
16 |
35,250,293 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7089:Pdia5
|
UTSW |
16 |
35,228,049 (GRCm39) |
missense |
probably benign |
|
R7308:Pdia5
|
UTSW |
16 |
35,276,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R7385:Pdia5
|
UTSW |
16 |
35,250,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R8726:Pdia5
|
UTSW |
16 |
35,269,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R9306:Pdia5
|
UTSW |
16 |
35,250,353 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTATAGTGTTCAGGGTGGAC -3'
(R):5'- ATCTCCTGTTGGGCTGTGAC -3'
Sequencing Primer
(F):5'- CTGCCAATTCCAGTGGAGAG -3'
(R):5'- ACTGGGTCTCACGTGAATTC -3'
|
Posted On |
2016-10-26 |