Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03126:Prdx2'

410169

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: 0.921) question?

Stock #

IGL03126

Quality Score

Status

Chromosome

Chromosomal Location

85696251-85701440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85698198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 130 (F130L)

Ref Sequence

ENSEMBL: ENSMUSP00000126451 (fasta)

Gene Model

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

AlphaFold

Q61171

Predicted Effect

probably damaging
Transcript: ENSMUST00000005292
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161
AA Change: F130L

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 damaging
Transcript: ENSMUST00000109733
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161
AA Change: F130L

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 damaging
Transcript: ENSMUST00000109734
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161
AA Change: F130L

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 damaging
Transcript: ENSMUST00000125893
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122694
Gene: ENSMUSG00000005161
AA Change: F130L

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 damaging
Transcript: ENSMUST00000164807
AA Change: F130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161
AA Change: F130L

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: ENSMUST00000138748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209372

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: 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: ENSMUST00000214133

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,617,563 (GRCm39)	N562S	probably benign	Het
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acsm1	A	T	7: 119,232,403 (GRCm39)	Q100L	possibly damaging	Het
Akr1c21	T	C	13: 4,627,457 (GRCm39)	Y184H	possibly damaging	Het
Anks3	T	C	16: 4,775,891 (GRCm39)	T104A	probably damaging	Het
Bcl2l2	A	G	14: 55,122,224 (GRCm39)	Y129C	probably damaging	Het
Cenpf	T	A	1: 189,391,207 (GRCm39)	K875I	probably damaging	Het
Cntnap1	T	C	11: 101,067,127 (GRCm39)	V15A	probably benign	Het
Dnaaf9	A	T	2: 130,633,915 (GRCm39)		probably null	Het
Elmo3	C	A	8: 106,033,013 (GRCm39)	R66S	probably damaging	Het
Elp1	A	G	4: 56,779,717 (GRCm39)	S565P	probably benign	Het
Epn1	C	A	7: 5,098,684 (GRCm39)	A370E	probably benign	Het
Esrrg	T	C	1: 187,730,184 (GRCm39)		probably benign	Het
Fgd5	T	G	6: 92,042,145 (GRCm39)	L1034R	probably damaging	Het
Fpgs	A	G	2: 32,573,135 (GRCm39)	V567A	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
H3c3	T	C	13: 23,929,425 (GRCm39)	K19R	possibly damaging	Het
Hsd17b14	T	C	7: 45,205,503 (GRCm39)	F38S	possibly damaging	Het
Larp1	T	C	11: 57,941,703 (GRCm39)	V712A	possibly damaging	Het
Mep1b	T	C	18: 21,221,617 (GRCm39)	F189S	probably damaging	Het
Mill1	T	C	7: 17,989,832 (GRCm39)	V38A	probably benign	Het
Niban2	C	T	2: 32,766,398 (GRCm39)	R13W	possibly damaging	Het
Npy4r	T	C	14: 33,868,290 (GRCm39)	I333V	probably benign	Het
Numa1	G	T	7: 101,649,874 (GRCm39)	E1202*	probably null	Het
Or3a1b	C	T	11: 74,012,610 (GRCm39)	A165V	probably benign	Het
Or6k6	A	G	1: 173,945,276 (GRCm39)	I102T	probably benign	Het
Oxr1	A	T	15: 41,683,645 (GRCm39)	Q356L	possibly damaging	Het
Rasa1	A	T	13: 85,404,515 (GRCm39)	S248R	possibly damaging	Het
Rgs19	A	G	2: 181,333,114 (GRCm39)	S49P	probably benign	Het
Rinl	A	G	7: 28,495,075 (GRCm39)		probably benign	Het
Serpinb11	T	C	1: 107,307,654 (GRCm39)	F362L	probably damaging	Het
Slamf8	T	C	1: 172,411,736 (GRCm39)	H253R	possibly damaging	Het
Tet3	C	A	6: 83,353,769 (GRCm39)	R829L	probably damaging	Het
Trappc8	A	G	18: 20,996,652 (GRCm39)	L420P	probably damaging	Het
Ube2u	A	T	4: 100,407,199 (GRCm39)	*353Y	probably null	Het
Wbp1l	A	C	19: 46,632,838 (GRCm39)	D46A	probably damaging	Het
Zbtb21	A	G	16: 97,752,945 (GRCm39)	V474A	probably 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
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

2016-08-02