Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Prdx6'

164170

Institutional Source

Beutler Lab

Gene Symbol

Prdx6

Ensembl Gene

ENSMUSG00000026701

Gene Name

peroxiredoxin 6

Synonyms

Ltw4, aiPLA2, 9430088D19Rik, acidic calcium-independent phospholipase A2, Ltw-4, CP-3, Aop2, 1-cysPrx, GPx, 1-Cys Prx, CC26, Brp-12, Lvtw-4, NSGP

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161067682-161078780 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 161071833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 111 (A111V)

Ref Sequence

ENSEMBL: ENSMUSP00000071636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051925] [ENSMUST00000071718] [ENSMUST00000192639]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051925
AA Change: A87V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050703
Gene: ENSMUSG00000026701
AA Change: A87V

Domain	Start	End	E-Value	Type
Pfam:AhpC-TSA	3	122	1.8e-25	PFAM
Pfam:Redoxin	5	139	4.8e-9	PFAM
Pfam:1-cysPrx_C	142	181	6.1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071718
AA Change: A111V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071636
Gene: ENSMUSG00000026701
AA Change: A111V

Domain	Start	End	E-Value	Type
Pfam:Redoxin	6	162	1.3e-11	PFAM
Pfam:AhpC-TSA	7	146	3.4e-30	PFAM
Pfam:1-cysPrx_C	166	205	6.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156678

Predicted Effect

probably benign
Transcript: ENSMUST00000192639
AA Change: P59S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142093
Gene: ENSMUSG00000026701
AA Change: P59S

Domain	Start	End	E-Value	Type
PDB:1PRX\|B	1	43	6e-16	PDB
SCOP:d1prxa_	5	39	9e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194613

Meta Mutation Damage Score

0.6944

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

MGI Phenotype

FUNCTION: This gene encodes a member of the peroxiredoxin family of peroxidases. The encoded protein is a bifunctional enzyme that has glutathione peroxidase and phospholipase activities. This protein is an antioxidant that reduces peroxidized membrane phospholipids and plays an important role in phospholipid homeostasis based on its ability to generate lysophospholipid substrate for the remodeling pathway of phospholipid synthesis. Mice lacking this gene are sensitive to oxidant stress, have altered lung phospholipid metabolism and susceptible to skin tumorigenesis. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruptions of this gene show no macroscopic or microscopic abnormalities. However, they have an increased susceptibility to oxidative stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,201,059 (GRCm39)	N326K	probably benign	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dclk3	G	A	9: 111,297,614 (GRCm39)	S386N	probably benign	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,711,314 (GRCm39)	N241D	probably damaging	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,332,311 (GRCm39)	H2295P	probably benign	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,153,019 (GRCm39)	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	possibly damaging	Het

Other mutations in Prdx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0540:Prdx6	UTSW	1	161,078,673 (GRCm39)	missense	probably damaging	1.00
R3700:Prdx6	UTSW	1	161,074,858 (GRCm39)	missense	probably damaging	1.00
R4930:Prdx6	UTSW	1	161,069,263 (GRCm39)	utr 3 prime	probably benign
R5412:Prdx6	UTSW	1	161,071,860 (GRCm39)	missense	probably damaging	0.99
R5577:Prdx6	UTSW	1	161,071,255 (GRCm39)	missense	probably damaging	1.00
R6842:Prdx6	UTSW	1	161,074,940 (GRCm39)	missense	probably damaging	1.00
R7229:Prdx6	UTSW	1	161,074,867 (GRCm39)	missense	probably damaging	1.00
R7450:Prdx6	UTSW	1	161,069,386 (GRCm39)	missense	probably benign
R7860:Prdx6	UTSW	1	161,069,428 (GRCm39)	splice site	probably null
R8379:Prdx6	UTSW	1	161,078,660 (GRCm39)	missense	probably benign	0.01
R8944:Prdx6	UTSW	1	161,069,432 (GRCm39)	splice site	probably benign
R9039:Prdx6	UTSW	1	161,078,619 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGTAAAGCTGCTTCTGACACTC -3'
(R):5'- GTGATTCTCAGCCTGGTGAGATGC -3'

Sequencing Primer
(F):5'- gttgtttgacccccccc -3'
(R):5'- CAGAGACAGACCCGTGTCAG -3'

Posted On

2014-03-28