Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Gpx2'

30819

Institutional Source

Beutler Lab

Gene Symbol

Gpx2

Ensembl Gene

ENSMUSG00000042808

Gene Name

glutathione peroxidase 2

Synonyms

intestinal GPx, GPx-GI, GI-GPx

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76839107-76842273 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 76841930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 74 (Q74*)

Ref Sequence

ENSEMBL: ENSMUSP00000081012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021459] [ENSMUST00000082431] [ENSMUST00000118604] [ENSMUST00000121716] [ENSMUST00000122419] [ENSMUST00000125842] [ENSMUST00000137826]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021459

SMART Domains

Protein: ENSMUSP00000021459
Gene: ENSMUSG00000021062

Domain	Start	End	E-Value	Type
RAB	9	172	2.04e-102	SMART
low complexity region	187	197	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000082431
AA Change: Q74*

SMART Domains

Protein: ENSMUSP00000081012
Gene: ENSMUSG00000042808
AA Change: Q74*

Domain	Start	End	E-Value	Type
Pfam:GSHPx	8	120	9.8e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118604

SMART Domains

Protein: ENSMUSP00000112789
Gene: ENSMUSG00000021062

Domain	Start	End	E-Value	Type
RAB	1	126	1.21e-54	SMART
low complexity region	141	151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121716

SMART Domains

Protein: ENSMUSP00000113299
Gene: ENSMUSG00000021062

Domain	Start	End	E-Value	Type
RAB	1	126	1.21e-54	SMART
low complexity region	141	151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122419

SMART Domains

Protein: ENSMUSP00000112457
Gene: ENSMUSG00000021062

Domain	Start	End	E-Value	Type
RAB	14	143	3.04e-60	SMART
low complexity region	158	168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125842

SMART Domains

Protein: ENSMUSP00000116906
Gene: ENSMUSG00000033373

Domain	Start	End	E-Value	Type
Pfam:Churchill	1	65	2.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137826

SMART Domains

Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373

Domain	Start	End	E-Value	Type
Pfam:Churchill	1	92	1.9e-42	PFAM
Pfam:Prenyltrans	157	198	5.1e-16	PFAM
Pfam:Prenyltrans	206	249	2.8e-13	PFAM
Pfam:Prenyltrans	255	297	1e-14	PFAM
Pfam:Prenyltrans	302	346	1.6e-12	PFAM
Pfam:Prenyltrans	364	408	1.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220569

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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 predominantly expressed in the gastrointestinal tract in rodents, is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Knockout studies in mice lacking this gene suggest a role for this isozyme in intestinal inflammation and colon cancer development. 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. A pseudogene of this gene has been identified on chromosome 7. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null allele appear normal, but double knockouts with Gpx1 exhibit symptoms of inflammatory bowel disease, including perianal ulceration, growth retardation, and hypothermia, a condition that is sometimes fatal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Gpx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Gpx2	APN	12	76,839,682 (GRCm39)	nonsense	probably null
R0646:Gpx2	UTSW	12	76,842,087 (GRCm39)	missense	probably benign	0.04
R4937:Gpx2	UTSW	12	76,839,574 (GRCm39)	missense	probably benign
R5900:Gpx2	UTSW	12	76,839,653 (GRCm39)	missense	probably damaging	1.00
R6197:Gpx2	UTSW	12	76,842,068 (GRCm39)	missense	probably damaging	1.00
R6620:Gpx2	UTSW	12	76,839,674 (GRCm39)	missense	possibly damaging	0.94
R9013:Gpx2	UTSW	12	76,842,118 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCTGGAAGCAACCCTCATTTTG -3'
(R):5'- CAAGTCGTTCTACGATCTCAGTGCC -3'

Sequencing Primer
(F):5'- GAAGCAACCCTCATTTTGGAAAG -3'
(R):5'- TCAGTGCCGTTGGCCTG -3'

Posted On

2013-04-24