Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Prdx2'

64206

Institutional Source

Beutler Lab

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

MMRRC Submission

038395-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R0109 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

85696251-85701440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85696880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 4 (G4S)

Ref Sequence

ENSEMBL: ENSMUSP00000126451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000065049] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000125893] [ENSMUST00000164807] [ENSMUST00000214133] [ENSMUST00000128972] [ENSMUST00000140561] [ENSMUST00000130902] [ENSMUST00000147812]

AlphaFold

Q61171

Predicted Effect

probably benign
Transcript: ENSMUST00000005292
AA Change: G4S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161
AA Change: G4S

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: ENSMUST00000065049

SMART Domains

Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	7.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109733
AA Change: G4S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161
AA Change: G4S

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: G4S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161
AA Change: G4S

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: ENSMUST00000109738

SMART Domains

Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	5.5e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122931

Predicted Effect

probably benign
Transcript: ENSMUST00000125893
AA Change: G4S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122694
Gene: ENSMUSG00000005161
AA Change: G4S

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

probably benign
Transcript: ENSMUST00000164807
AA Change: G4S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161
AA Change: G4S

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: ENSMUST00000127215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138748

Predicted Effect

probably benign
Transcript: ENSMUST00000214133

Predicted Effect

probably benign
Transcript: ENSMUST00000128972

SMART Domains

Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:RNase_HII	57	268	1.4e-53	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130902

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

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Avil	A	G	10: 126,849,513 (GRCm39)	N603S	probably benign	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Col19a1	A	C	1: 24,598,849 (GRCm39)		probably null	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Efhd2	A	G	4: 141,601,878 (GRCm39)	F101L	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Fras1	T	C	5: 96,857,936 (GRCm39)	S2077P	probably benign	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Hspg2	T	C	4: 137,289,512 (GRCm39)	V3824A	probably benign	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or52d1	T	C	7: 103,755,812 (GRCm39)	S109P	probably damaging	Het
Or5b94	C	A	19: 12,652,224 (GRCm39)	F218L	probably benign	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,279,340 (GRCm39)	I50V	possibly damaging	Het
Rtl1	G	A	12: 109,561,841 (GRCm39)		probably benign	Het
Sgsm3	G	C	15: 80,893,667 (GRCm39)	D434H	probably damaging	Het
Shank2	T	C	7: 143,964,314 (GRCm39)	S634P	possibly damaging	Het
Sik2	A	G	9: 50,810,775 (GRCm39)	M447T	possibly damaging	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ttn	T	A	2: 76,555,908 (GRCm39)	I30366F	probably damaging	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r114	A	T	17: 23,529,549 (GRCm39)	Y184*	probably null	Het
Vmn2r53	C	T	7: 12,315,993 (GRCm39)	A609T	probably damaging	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Xirp2	T	A	2: 67,349,622 (GRCm39)	N3272K	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp454	T	A	11: 50,774,602 (GRCm39)	T24S	possibly damaging	Het

Other mutations in Prdx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02296:Prdx2	APN	8	85,700,681 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCCATAATTTGGGTAGCAGCGG -3'
(R):5'- TGAACTGAGAGTCCACAGACACTCC -3'

Sequencing Primer
(F):5'- AGCGGTGACCCATCATTC -3'
(R):5'- GTCGCTAAAAGCGATGATCTC -3'

Posted On

2013-08-06