Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Prdx2'

60604

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

038378-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R0091 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

85696251-85701440 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 85698330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150387 (fasta)

Gene Model

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

AlphaFold

Q61171

Predicted Effect

probably benign
Transcript: ENSMUST00000005292

SMART Domains

Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161

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: ENSMUST00000109733

SMART Domains

Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161

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

SMART Domains

Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161

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: ENSMUST00000130902

Predicted Effect

probably benign
Transcript: ENSMUST00000164807

SMART Domains

Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161

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: ENSMUST00000137791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209372

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: 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

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGGAGTGTCCCCTTCCTGTTCTG -3'
(R):5'- GTGTGCCACCATGCCATATCCTATT -3'

Sequencing Primer
(F):5'- AGGTGGTCTCCCAGATCCTC -3'
(R):5'- gagagagcatcagattcccc -3'

Posted On

2013-07-24