Incidental Mutation 'R5811:Pdia5'
ID |
447530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdia5
|
Ensembl Gene |
ENSMUSG00000022844 |
Gene Name |
protein disulfide isomerase associated 5 |
Synonyms |
Pdir, 2700053F16Rik |
MMRRC Submission |
043213-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R5811 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35217682-35311243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35269790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 173
(M173K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023550]
|
AlphaFold |
Q921X9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023550
AA Change: M173K
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023550 Gene: ENSMUSG00000022844 AA Change: M173K
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
probably 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 |
R5581:Pdia5
|
UTSW |
16 |
35,269,812 (GRCm39) |
missense |
probably benign |
0.22 |
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'- CCCTATAGTGTTCAGGGTGGAC -3'
(R):5'- TGACTGGGTCTCACGTGAATTC -3'
Sequencing Primer
(F):5'- CTGCCAATTCCAGTGGAGAG -3'
(R):5'- CTCACGTGAATTCTGAAGTGTACACC -3'
|
Posted On |
2016-12-15 |