Incidental Mutation 'R6842:Prdx6'
| ID |
533886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdx6
|
| Ensembl Gene |
ENSMUSG00000026701 |
| Gene Name |
peroxiredoxin 6 |
| Synonyms |
Ltw4, aiPLA2, 9430088D19Rik, acidic calcium-independent phospholipase A2, Ltw-4, CP-3, Aop2, 1-cysPrx, GPx, 1-Cys Prx, CC26, Brp-12, Lvtw-4, NSGP |
| MMRRC Submission |
044948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
161067682-161078780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 161074940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 47
(C47S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051925]
[ENSMUST00000071718]
[ENSMUST00000192639]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051925
AA Change: C23S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050703
Gene: ENSMUSG00000026701
AA Change: C23S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AhpC-TSA
|
3 |
122 |
1.8e-25 |
PFAM |
|
Pfam:Redoxin
|
5 |
139 |
4.8e-9 |
PFAM |
|
Pfam:1-cysPrx_C
|
142 |
181 |
6.1e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071718
AA Change: C47S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071636
Gene: ENSMUSG00000026701
AA Change: C47S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
6 |
162 |
1.3e-11 |
PFAM |
|
Pfam:AhpC-TSA
|
7 |
146 |
3.4e-30 |
PFAM |
|
Pfam:1-cysPrx_C
|
166 |
205 |
6.2e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192639
|
| SMART Domains |
Protein: ENSMUSP00000142093
Gene: ENSMUSG00000026701
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1PRX|B
|
1 |
43 |
6e-16 |
PDB |
|
SCOP:d1prxa_
|
5 |
39 |
9e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peroxiredoxin family of peroxidases. The encoded protein is a bifunctional enzyme that has glutathione peroxidase and phospholipase activities. This protein is an antioxidant that reduces peroxidized membrane phospholipids and plays an important role in phospholipid homeostasis based on its ability to generate lysophospholipid substrate for the remodeling pathway of phospholipid synthesis. Mice lacking this gene are sensitive to oxidant stress, have altered lung phospholipid metabolism and susceptible to skin tumorigenesis. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruptions of this gene show no macroscopic or microscopic abnormalities. However, they have an increased susceptibility to oxidative stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,432 (GRCm39) |
N69S |
probably benign |
Het |
| Adgrl3 |
C |
T |
5: 81,888,927 (GRCm39) |
A1042V |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,807,416 (GRCm39) |
V660A |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,604,461 (GRCm39) |
H395L |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,358,863 (GRCm39) |
I307T |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,800,101 (GRCm39) |
S381P |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,965 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc127 |
T |
C |
13: 74,505,088 (GRCm39) |
I212T |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,132,979 (GRCm39) |
V91A |
probably benign |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,402,952 (GRCm39) |
F2347L |
possibly damaging |
Het |
| Ddx19a |
A |
G |
8: 111,705,257 (GRCm39) |
V288A |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,928 (GRCm39) |
E53G |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,553,988 (GRCm39) |
I217N |
probably damaging |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,536 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,275 (GRCm39) |
I6N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,439,781 (GRCm39) |
L128P |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,563 (GRCm39) |
S24F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,269,465 (GRCm39) |
D591E |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,888 (GRCm39) |
I254F |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,085,866 (GRCm39) |
M5V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,175,481 (GRCm39) |
D312G |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,107,917 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Oas1g |
T |
C |
5: 121,025,621 (GRCm39) |
E2G |
probably benign |
Het |
| Ocm |
T |
A |
5: 143,962,509 (GRCm39) |
I6F |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,268,401 (GRCm39) |
D373N |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,576 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,093 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,885 (GRCm39) |
N230S |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,215,640 (GRCm39) |
D419G |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,612,612 (GRCm39) |
I194F |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,136,868 (GRCm39) |
S534P |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,979 (GRCm39) |
V452A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,467,320 (GRCm39) |
V1177A |
probably benign |
Het |
| Tgfbr1 |
T |
C |
4: 47,383,757 (GRCm39) |
C32R |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,983 (GRCm39) |
N801S |
probably benign |
Het |
| Utp6 |
C |
T |
11: 79,831,775 (GRCm39) |
S504N |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,708,532 (GRCm39) |
S114A |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,866 (GRCm39) |
E425G |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,940,763 (GRCm39) |
T374I |
possibly damaging |
Het |
|
| Other mutations in Prdx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0540:Prdx6
|
UTSW |
1 |
161,078,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Prdx6
|
UTSW |
1 |
161,071,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3700:Prdx6
|
UTSW |
1 |
161,074,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Prdx6
|
UTSW |
1 |
161,069,263 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5412:Prdx6
|
UTSW |
1 |
161,071,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5577:Prdx6
|
UTSW |
1 |
161,071,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Prdx6
|
UTSW |
1 |
161,074,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Prdx6
|
UTSW |
1 |
161,069,386 (GRCm39) |
missense |
probably benign |
|
|
R7860:Prdx6
|
UTSW |
1 |
161,069,428 (GRCm39) |
splice site |
probably null |
|
|
R8379:Prdx6
|
UTSW |
1 |
161,078,660 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8944:Prdx6
|
UTSW |
1 |
161,069,432 (GRCm39) |
splice site |
probably benign |
|
|
R9039:Prdx6
|
UTSW |
1 |
161,078,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTATTAGGAATGTATGGGAGGC -3'
(R):5'- ATTTGAGCTGTCAACTTGGGC -3'
Sequencing Primer
(F):5'- TTAGGAATGTATGGGAGGCAACAAG -3'
(R):5'- CAACTTGGGCTTCTATGGAGAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation