Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02296:Prdx2'

290185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdx2

Ensembl Gene

ENSMUSG00000005161

Gene Name

peroxiredoxin 2

Synonyms

thioredoxin reductase, Prx II-1, TPx, PrxII, PRP, Trx dependent peroxide reductase 1, protector protein, thiol specific antioxidant protein, thioredoxin peroxidase, TR, Tdpx1, TDX1, thioredoxin dependent peroxide reductase 1, TSA

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL02296

Quality Score

Status

Chromosome

Chromosomal Location

85696251-85701440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85700681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 188 (D188E)

Ref Sequence

ENSEMBL: ENSMUSP00000126451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000064922] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000109736] [ENSMUST00000125893] [ENSMUST00000164807] [ENSMUST00000147812] [ENSMUST00000214133] [ENSMUST00000140561]

AlphaFold

Q61171

Predicted Effect

probably benign
Transcript: ENSMUST00000005292
AA Change: D188E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161
AA Change: D188E

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	157	3.9e-20	PFAM
Pfam:AhpC-TSA	8	141	5.6e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064922

SMART Domains

Protein: ENSMUSP00000064680
Gene: ENSMUSG00000052837

Domain	Start	End	E-Value	Type
Pfam:Jun	5	254	6.1e-81	PFAM
BRLZ	263	327	1.77e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109733
AA Change: D188E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161
AA Change: D188E

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	159	1.3e-21	PFAM
Pfam:AhpC-TSA	8	141	1.3e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109734
AA Change: D188E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161
AA Change: D188E

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	159	1.3e-21	PFAM
Pfam:AhpC-TSA	8	141	1.3e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109736

SMART Domains

Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125893

SMART Domains

Protein: ENSMUSP00000122694
Gene: ENSMUSG00000005161

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	147	1.4e-21	PFAM
Pfam:AhpC-TSA	8	141	2.3e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127215

Predicted Effect

probably benign
Transcript: ENSMUST00000164807
AA Change: D188E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161
AA Change: D188E

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	159	1.3e-21	PFAM
Pfam:AhpC-TSA	8	141	1.3e-44	PFAM
Pfam:1-cysPrx_C	161	196	8.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138748

Predicted Effect

probably benign
Transcript: ENSMUST00000147812

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214133

Predicted Effect

probably benign
Transcript: ENSMUST00000140561

SMART Domains

Protein: ENSMUSP00000118442
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	54	4e-12	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 plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mice have hemolytic anemia and exhibit enlarged spleens due to congestion of the red pulp. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	T	A	1: 63,808,344 (GRCm39)	R7S	unknown	Het
Acss3	A	T	10: 106,889,312 (GRCm39)	Y169*	probably null	Het
Anln	T	C	9: 22,283,483 (GRCm39)	K450R	possibly damaging	Het
Armc10	A	T	5: 21,865,631 (GRCm39)	R225S	probably benign	Het
Cbfb	T	A	8: 105,905,312 (GRCm39)	Y85N	probably damaging	Het
Col13a1	G	T	10: 61,697,804 (GRCm39)		probably benign	Het
Dclk2	T	C	3: 86,700,600 (GRCm39)	I626V	probably damaging	Het
Epb41	G	A	4: 131,731,065 (GRCm39)	T172M	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Glyat	A	T	19: 12,628,625 (GRCm39)	D140V	probably damaging	Het
Hikeshi	A	T	7: 89,585,130 (GRCm39)	F25I	probably damaging	Het
Ifi204	A	G	1: 173,576,880 (GRCm39)	Y574H	possibly damaging	Het
Kcnd3	C	T	3: 105,574,317 (GRCm39)	R501*	probably null	Het
Kdm4a	T	C	4: 118,034,662 (GRCm39)	E23G	probably damaging	Het
Map3k19	C	T	1: 127,751,983 (GRCm39)	S456N	probably damaging	Het
Mgat4c	A	G	10: 102,221,021 (GRCm39)		probably benign	Het
Nup214	A	G	2: 31,878,200 (GRCm39)	N289S	possibly damaging	Het
Obsl1	G	T	1: 75,474,793 (GRCm39)	A674D	possibly damaging	Het
Or1e25	A	T	11: 73,493,532 (GRCm39)	N42I	probably damaging	Het
Or51i1	A	T	7: 103,671,311 (GRCm39)		probably null	Het
Pak2	T	C	16: 31,862,820 (GRCm39)		probably null	Het
Pde4a	A	T	9: 21,103,865 (GRCm39)	N138I	possibly damaging	Het
Per1	A	G	11: 68,993,001 (GRCm39)	D286G	probably damaging	Het
Pramel23	G	A	4: 143,425,051 (GRCm39)	Q131*	probably null	Het
Ptgis	T	C	2: 167,048,657 (GRCm39)	K453R	probably damaging	Het
Radil	A	G	5: 142,492,218 (GRCm39)	V470A	probably benign	Het
Rgs12	A	G	5: 35,123,464 (GRCm39)	S416G	probably damaging	Het
Rnf213	A	G	11: 119,354,162 (GRCm39)	H4013R	probably benign	Het
Ttc17	A	G	2: 94,208,055 (GRCm39)	L185P	probably damaging	Het
Ttn	A	G	2: 76,542,768 (GRCm39)	I33406T	probably damaging	Het
Ube2e1	A	G	14: 18,331,062 (GRCm38)		probably benign	Het

Other mutations in Prdx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03126:Prdx2	APN	8	85,698,198 (GRCm39)	missense	probably damaging	1.00
R0091:Prdx2	UTSW	8	85,698,330 (GRCm39)	unclassified	probably benign
R0109:Prdx2	UTSW	8	85,696,880 (GRCm39)	missense	probably benign	0.08
R0109:Prdx2	UTSW	8	85,696,880 (GRCm39)	missense	probably benign	0.08
R5288:Prdx2	UTSW	8	85,698,302 (GRCm39)	nonsense	probably null
R7788:Prdx2	UTSW	8	85,698,303 (GRCm39)	missense	probably benign	0.02
R8367:Prdx2	UTSW	8	85,698,244 (GRCm39)	missense	probably damaging	1.00
R9215:Prdx2	UTSW	8	85,697,932 (GRCm39)	missense	possibly damaging	0.80
R9414:Prdx2	UTSW	8	85,697,196 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16