Mutagenetix > Incidental Mutations

Incidental Mutation 'R3849:Prdx5'

275846

Institutional Source

Beutler Lab

Gene Symbol

Prdx5

Ensembl Gene

ENSMUSG00000024953

Gene Name

peroxiredoxin 5

Synonyms

AOPP, PMP20, Prdx6, PrxV, AOEB166, peroxiredoxin V, PrxV

MMRRC Submission

040897-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R3849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6906697-6910106 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6906850 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 166 (L166P)

Ref Sequence

ENSEMBL: ENSMUSP00000134521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000149261] [ENSMUST00000173091] [ENSMUST00000174786]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025904
AA Change: L210P

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

SMART Domains

Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953
AA Change: L210P

Domain	Start	End	E-Value	Type
Pfam:Redoxin	53	206	1e-31	PFAM
Pfam:AhpC-TSA	54	189	8.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025906

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	6.74e-5	PROSPERO
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	147	2.16e-40	SMART
low complexity region	169	187	N/A	INTRINSIC
internal_repeat_1	202	218	6.74e-5	PROSPERO
HOLI	229	391	9.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088257

SMART Domains

Protein: ENSMUSP00000085591
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	112	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116551

SMART Domains

Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	112	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145300

Predicted Effect

probably damaging
Transcript: ENSMUST00000149261
AA Change: L213P

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

SMART Domains

Protein: ENSMUSP00000135084
Gene: ENSMUSG00000024953
AA Change: L213P

Domain	Start	End	E-Value	Type
Pfam:Redoxin	56	210	1.1e-31	PFAM
Pfam:AhpC-TSA	57	192	6.8e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172869

Predicted Effect

probably damaging
Transcript: ENSMUST00000173091
AA Change: L166P

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

SMART Domains

Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953
AA Change: L166P

Domain	Start	End	E-Value	Type
Pfam:Redoxin	53	99	3.3e-11	PFAM
Pfam:AhpC-TSA	54	100	9.3e-8	PFAM
Pfam:Redoxin	97	163	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174786

SMART Domains

Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812

Domain	Start	End	E-Value	Type
Pfam:Trm112p	2	101	5.6e-11	PFAM

Meta Mutation Damage Score

0.8463

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (52/52)

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 may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 137,376,340	N102K	possibly damaging	Het
Abca1	C	T	4: 53,061,481		probably benign	Het
Adamts17	T	A	7: 66,840,467	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,418,546	Q1564L	probably damaging	Het
Aspm	T	A	1: 139,458,286	V556E	probably benign	Het
Axin1	T	A	17: 26,187,797	Y455N	probably benign	Het
BC017158	C	T	7: 128,285,208	V201I	probably damaging	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Car8	T	A	4: 8,189,353	I154F	probably benign	Het
Ccl27a	T	A	4: 41,773,232	T76S	probably benign	Het
Cep170	G	A	1: 176,755,843	A990V	probably benign	Het
Chd1	A	T	17: 15,731,871	T291S	probably damaging	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Cpa4	T	C	6: 30,590,873	F390S	probably damaging	Het
Cul5	T	G	9: 53,617,986	M800L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Dusp8	T	C	7: 142,090,065	E37G	probably damaging	Het
Efr3b	T	C	12: 3,983,414	N131S	probably benign	Het
Fan1	T	C	7: 64,372,371	Y378C	probably damaging	Het
Fcgr2b	T	C	1: 170,968,135	N75S	possibly damaging	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Grip1	G	A	10: 119,929,958	G65D	probably damaging	Het
Hoxc10	T	C	15: 102,967,444	V196A	probably benign	Het
Hpx	A	G	7: 105,596,291	C92R	probably damaging	Het
Ighv1-22	A	G	12: 114,746,681	F9S	possibly damaging	Het
Kif24	C	T	4: 41,404,734	R422H	probably damaging	Het
Klk1b1	T	C	7: 43,969,327	Y43H	probably damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Lysmd1	G	A	3: 95,138,461	G203D	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Mrc2	T	C	11: 105,292,903		probably null	Het
Mtr	A	G	13: 12,247,365	S152P	probably benign	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Ndufa13	T	C	8: 69,901,610	D9G	probably damaging	Het
Nek1	T	A	8: 61,072,315	F596I	probably damaging	Het
Nsd1	A	G	13: 55,246,691	T702A	probably benign	Het
Olfr77	A	T	9: 19,920,809	Y200F	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Plxnc1	A	G	10: 94,794,432	V1535A	probably benign	Het
Prol1	A	T	5: 88,328,617	I289F	unknown	Het
Prss23	T	C	7: 89,509,751	Y370C	probably damaging	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnase2b	T	A	14: 51,162,748	H95Q	probably damaging	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Syne2	C	T	12: 76,046,065	Q5150*	probably null	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Vwa3a	A	T	7: 120,762,464	K133*	probably null	Het
Vwce	T	C	19: 10,646,905	S387P	probably damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het

Other mutations in Prdx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02755:Prdx5	APN	19	6909595	missense	probably benign	0.06
R1601:Prdx5	UTSW	19	6907558	missense	possibly damaging	0.56
R1886:Prdx5	UTSW	19	6908190	missense	probably benign	0.26
R3713:Prdx5	UTSW	19	6908109	missense	probably damaging	1.00
R4420:Prdx5	UTSW	19	6907964	unclassified	probably null
R4622:Prdx5	UTSW	19	6906973	unclassified	probably benign
R7211:Prdx5	UTSW	19	6907590	missense	probably damaging	1.00
R7423:Prdx5	UTSW	19	6910002	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGGCTGCACGTGAGCAAG -3'
(R):5'- TCTCTTTGGGAATCGTCGGC -3'

Sequencing Primer
(F):5'- GGGCAAAGCAGACAACCCTG -3'
(R):5'- CTTTGGGAATCGTCGGCTGAAAAG -3'

Posted On

2015-04-06