Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:Gpx3'

159937

Institutional Source

Beutler Lab

Gene Symbol

Gpx3

Ensembl Gene

ENSMUSG00000018339

Gene Name

glutathione peroxidase 3

Synonyms

extracellular GPx, GPx, EGPx, plasma GPx

MMRRC Submission

039474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54793680-54801213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54800422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 207 (V207I)

Ref Sequence

ENSEMBL: ENSMUSP00000081011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018482] [ENSMUST00000082430] [ENSMUST00000102730] [ENSMUST00000102731] [ENSMUST00000108885] [ENSMUST00000108886] [ENSMUST00000108889] [ENSMUST00000149324] [ENSMUST00000125094]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018482

SMART Domains

Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000082430
AA Change: V207I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
AA Change: V207I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:GSHPx	40	153	4.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102730

SMART Domains

Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	3e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102731

SMART Domains

Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108885

SMART Domains

Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SCOP:d1bg1a1	289	458	5e-4	SMART
low complexity region	466	490	N/A	INTRINSIC
low complexity region	507	524	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108886

SMART Domains

Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
coiled coil region	162	213	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
SCOP:d1bg1a1	289	458	5e-4	SMART
low complexity region	466	490	N/A	INTRINSIC
low complexity region	507	524	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108889

SMART Domains

Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400

Domain	Start	End	E-Value	Type
coiled coil region	42	71	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
coiled coil region	215	266	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
SCOP:d1bg1a1	342	511	2e-4	SMART
low complexity region	519	543	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124304

Predicted Effect

probably benign
Transcript: ENSMUST00000149324

SMART Domains

Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:GSHPx	40	83	1e-13	PFAM
Pfam:GSHPx	99	185	7.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125094

SMART Domains

Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:GSHPx	40	153	1.6e-43	PFAM

Meta Mutation Damage Score

0.1173

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted and is highly expressed in mouse kidney, which appears to be the major source of the enzyme in plasma. It has a role in mouse organogenesis, and dysregulation of this isozyme has been associated with obesity-related metabolic complications, platelet-dependent thrombosis, colitis-associated carcinoma, and thermosensitive phenotype. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glutathione peroxidase activity, increase plasma selenium levels when mice are fed a selenium supplemented diet, and reduced kidney selenium levels regardless of selenium supplementation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Abtb3	C	A	10: 85,481,442 (GRCm39)	T948K	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Alb	A	G	5: 90,612,061 (GRCm39)		probably benign	Het
Arnt	A	G	3: 95,377,710 (GRCm39)		probably benign	Het
Asap2	A	C	12: 21,289,586 (GRCm39)	N501H	probably damaging	Het
Asap2	A	G	12: 21,289,590 (GRCm39)	E499G	probably damaging	Het
Atp5f1b	C	T	10: 127,919,167 (GRCm39)		probably benign	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
AW554918	T	G	18: 25,472,756 (GRCm39)		probably null	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Bod1l	G	A	5: 41,976,814 (GRCm39)	T1500I	probably damaging	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dnah17	T	A	11: 117,964,849 (GRCm39)	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,686,395 (GRCm39)		probably benign	Het
Dnajc16	G	T	4: 141,495,052 (GRCm39)	S520*	probably null	Het
Dsg1b	G	T	18: 20,530,487 (GRCm39)	E381*	probably null	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Epn2	A	G	11: 61,413,912 (GRCm39)	S419P	probably benign	Het
Fat4	T	C	3: 38,944,962 (GRCm39)	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gnas	C	T	2: 174,187,007 (GRCm39)		probably benign	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Hsd17b4	G	T	18: 50,263,254 (GRCm39)		probably benign	Het
Kmt2b	A	G	7: 30,276,385 (GRCm39)		probably benign	Het
Lrch1	T	C	14: 75,041,709 (GRCm39)		probably benign	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mtch2	A	T	2: 90,683,359 (GRCm39)		probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Mug1	C	T	6: 121,815,635 (GRCm39)	S13L	probably benign	Het
Naa25	T	G	5: 121,561,797 (GRCm39)	L450R	probably damaging	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nrp2	C	T	1: 62,822,491 (GRCm39)	R695*	probably null	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or2z9	T	C	8: 72,854,231 (GRCm39)	L209P	probably damaging	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Pclo	A	T	5: 14,728,144 (GRCm39)		probably benign	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Pkn3	T	A	2: 29,973,059 (GRCm39)	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plppr2	C	T	9: 21,859,085 (GRCm39)	P401S	possibly damaging	Het
Poln	A	G	5: 34,236,319 (GRCm39)	V604A	probably benign	Het
Pramel21	T	A	4: 143,342,604 (GRCm39)	I237K	probably benign	Het
Prkd2	A	G	7: 16,603,470 (GRCm39)	D800G	probably benign	Het
Ptprb	A	G	10: 116,155,375 (GRCm39)	T710A	probably benign	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Ralbp1	A	T	17: 66,166,143 (GRCm39)		probably benign	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Smcr8	T	C	11: 60,668,858 (GRCm39)	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,292,247 (GRCm39)	T301A	probably damaging	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Szt2	A	T	4: 118,244,976 (GRCm39)	S1187T	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,680 (GRCm39)	M405L	possibly damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,715,313 (GRCm39)	Q341K	probably benign	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Utrn	C	T	10: 12,589,094 (GRCm39)	V871I	probably benign	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Vmn1r205	T	C	13: 22,777,049 (GRCm39)	K18E	probably benign	Het
Zfp518a	T	A	19: 40,902,803 (GRCm39)	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,374,590 (GRCm39)	C475R	probably damaging	Het

Other mutations in Gpx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02125:Gpx3	APN	11	54,798,068 (GRCm39)	missense	probably damaging	1.00
IGL02600:Gpx3	APN	11	54,800,433 (GRCm39)	missense	possibly damaging	0.84
R0589:Gpx3	UTSW	11	54,800,329 (GRCm39)	missense	probably benign	0.00
R0969:Gpx3	UTSW	11	54,799,852 (GRCm39)	splice site	probably benign
R1344:Gpx3	UTSW	11	54,800,422 (GRCm39)	missense	probably damaging	0.99
R5105:Gpx3	UTSW	11	54,797,980 (GRCm39)	missense	possibly damaging	0.82
R5390:Gpx3	UTSW	11	54,800,375 (GRCm39)	missense	probably damaging	0.98
R6476:Gpx3	UTSW	11	54,798,025 (GRCm39)	missense	probably damaging	1.00
R8494:Gpx3	UTSW	11	54,793,846 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAGGAGCCTCAAGTCAGACTAAC -3'
(R):5'- GTCCACAGTGGTTCAGACACACAG -3'

Sequencing Primer
(F):5'- GTCAGACTAACGCCCCTCTC -3'
(R):5'- TGTAATAAGAAAGAGAATCTGGGGTG -3'

Posted On

2014-03-14