Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Prdx5'

259779

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

040706-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R3713 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

6906697-6910106 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6908109 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 56 (D56G)

Ref Sequence

ENSEMBL: ENSMUSP00000025904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000149261] [ENSMUST00000173091] [ENSMUST00000173635] [ENSMUST00000174786]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025904
AA Change: D56G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953
AA Change: D56G

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

possibly damaging
Transcript: ENSMUST00000149261
AA Change: D59G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135084
Gene: ENSMUSG00000024953
AA Change: D59G

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: D56G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953
AA Change: D56G

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

noncoding transcript
Transcript: ENSMUST00000173308

Predicted Effect

probably benign
Transcript: ENSMUST00000173635

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
PDB:1LO1\|A	1	21	6e-7	PDB
low complexity region	26	44	N/A	INTRINSIC
Pfam:Hormone_recep	65	158	4.7e-18	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

0.7751

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,561,505	H354L	possibly damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	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
R3849:Prdx5	UTSW	19	6906850	missense	probably damaging	1.00
R4420:Prdx5	UTSW	19	6907964	splice site	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
R8338:Prdx5	UTSW	19	6907264	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGCGTCAATCAGAGCTATC -3'
(R):5'- GGCCTTAAGCAGAATCAGTCATG -3'

Sequencing Primer
(F):5'- CAGAGCTATCAGATTTAATGTGGG -3'
(R):5'- TTAAGCAGAATCAGTCATGTAGGATG -3'

Posted On

2015-01-23