Incidental Mutation 'IGL02755:Prdx5'
| ID |
306410 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prdx5
|
| Ensembl Gene |
ENSMUSG00000024953 |
| Gene Name |
peroxiredoxin 5 |
| Synonyms |
Prdx6, AOPP, PrxV, peroxiredoxin V, PMP20, AOEB166, PrxV |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
IGL02755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6884065-6887474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6886963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025904]
[ENSMUST00000025906]
[ENSMUST00000088257]
[ENSMUST00000116551]
[ENSMUST00000149261]
[ENSMUST00000173091]
[ENSMUST00000174786]
[ENSMUST00000173635]
|
| AlphaFold |
P99029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025904
AA Change: V8A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
53 |
206 |
1e-31 |
PFAM |
|
Pfam:AhpC-TSA
|
54 |
189 |
8.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025906
|
| SMART Domains |
Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
21 |
6.74e-5 |
PROSPERO |
|
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
|
ZnF_C4
|
76 |
147 |
2.16e-40 |
SMART |
|
low complexity region
|
169 |
187 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
202 |
218 |
6.74e-5 |
PROSPERO |
|
HOLI
|
229 |
391 |
9.21e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088257
|
| SMART Domains |
Protein: ENSMUSP00000085591
Gene: ENSMUSG00000038812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trm112p
|
2 |
112 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116551
|
| SMART Domains |
Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trm112p
|
2 |
112 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149261
|
| SMART Domains |
Protein: ENSMUSP00000135084
Gene: ENSMUSG00000024953
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
56 |
210 |
1.1e-31 |
PFAM |
|
Pfam:AhpC-TSA
|
57 |
192 |
6.8e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173091
AA Change: V8A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
53 |
99 |
3.3e-11 |
PFAM |
|
Pfam:AhpC-TSA
|
54 |
100 |
9.3e-8 |
PFAM |
|
Pfam:Redoxin
|
97 |
163 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174786
|
| SMART Domains |
Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trm112p
|
2 |
101 |
5.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173635
|
| SMART Domains |
Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1LO1|A
|
1 |
21 |
6e-7 |
PDB |
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Hormone_recep
|
65 |
158 |
4.7e-18 |
PFAM |
|
| Coding Region Coverage |
|
| 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 peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
T |
A |
11: 11,539,358 (GRCm39) |
N189I |
unknown |
Het |
| Adamts19 |
T |
A |
18: 59,103,005 (GRCm39) |
I682K |
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,965,110 (GRCm39) |
V367I |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,743,507 (GRCm39) |
E1108G |
possibly damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,801,828 (GRCm39) |
N96K |
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,918,168 (GRCm39) |
Y160H |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,238,759 (GRCm39) |
V683E |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,081,416 (GRCm39) |
H786R |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,760,210 (GRCm39) |
I1985T |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,457,040 (GRCm39) |
T36S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,671,189 (GRCm39) |
S1126P |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,972 (GRCm39) |
V264E |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,658,842 (GRCm39) |
T46A |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,600,356 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
A |
G |
8: 120,317,410 (GRCm39) |
D313G |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,448 (GRCm39) |
D561E |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,186,895 (GRCm39) |
T321A |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,297,705 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,742,065 (GRCm39) |
|
probably null |
Het |
| Gm28177 |
G |
A |
1: 52,136,031 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,581,913 (GRCm39) |
V123A |
possibly damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,305,260 (GRCm39) |
K33E |
probably damaging |
Het |
| Ift22 |
T |
C |
5: 136,940,640 (GRCm39) |
W102R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,762,530 (GRCm39) |
F44L |
probably damaging |
Het |
| Lingo3 |
T |
C |
10: 80,671,843 (GRCm39) |
E29G |
possibly damaging |
Het |
| Nf2 |
A |
G |
11: 4,768,542 (GRCm39) |
L109P |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,110,187 (GRCm39) |
H349R |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,065 (GRCm39) |
M256L |
probably benign |
Het |
| Otub1 |
T |
A |
19: 7,183,624 (GRCm39) |
M1L |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,668,318 (GRCm39) |
|
probably null |
Het |
| Popdc3 |
C |
A |
10: 45,191,314 (GRCm39) |
H142N |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,612 (GRCm39) |
F203S |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,427,326 (GRCm39) |
Y636H |
probably damaging |
Het |
| Rad51d |
A |
T |
11: 82,772,458 (GRCm39) |
I236N |
probably benign |
Het |
| Reep3 |
G |
T |
10: 66,857,656 (GRCm39) |
T145K |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,120,475 (GRCm39) |
L156F |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,228,829 (GRCm39) |
T101A |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,344,605 (GRCm39) |
V257A |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,092,247 (GRCm39) |
V506A |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,861,595 (GRCm39) |
S2471T |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,381 (GRCm39) |
T319A |
probably damaging |
Het |
| Vmn2r94 |
C |
T |
17: 18,464,761 (GRCm39) |
V510I |
probably benign |
Het |
| Wscd2 |
T |
A |
5: 113,712,092 (GRCm39) |
M337K |
possibly damaging |
Het |
| Zfp866 |
A |
G |
8: 70,219,290 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Prdx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1601:Prdx5
|
UTSW |
19 |
6,884,926 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1886:Prdx5
|
UTSW |
19 |
6,885,558 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3713:Prdx5
|
UTSW |
19 |
6,885,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Prdx5
|
UTSW |
19 |
6,884,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Prdx5
|
UTSW |
19 |
6,885,332 (GRCm39) |
splice site |
probably null |
|
|
R4622:Prdx5
|
UTSW |
19 |
6,884,341 (GRCm39) |
unclassified |
probably benign |
|
|
R7211:Prdx5
|
UTSW |
19 |
6,884,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Prdx5
|
UTSW |
19 |
6,887,370 (GRCm39) |
unclassified |
probably benign |
|
|
R8338:Prdx5
|
UTSW |
19 |
6,884,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Prdx5
|
UTSW |
19 |
6,885,542 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation