Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Gsr'

48783

Institutional Source

Beutler Lab

Gene Symbol

Gsr

Ensembl Gene

ENSMUSG00000031584

Gene Name

glutathione reductase

Synonyms

D8Ertd238e, Gr-1, Gr1

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R0524 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34143266-34188190 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 34159208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033992]

AlphaFold

P47791

Predicted Effect

probably null
Transcript: ENSMUST00000033992

SMART Domains

Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584

Domain	Start	End	E-Value	Type
low complexity region	17	22	N/A	INTRINSIC
Pfam:Pyr_redox_2	43	368	1.2e-73	PFAM
Pfam:Pyr_redox	211	292	1.7e-21	PFAM
Pfam:Pyr_redox_dim	389	500	1.6e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154745

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

Validation Efficiency

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 class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
PHENOTYPE: A homozygous mutation disrupting this gene between exon 1-2 results in a decreased retinal artery-to-vein ratio. Another small deletion of exons 2-5 has no phenotypic effect. Electrophoretic alleles designated a (C57BL/6, CE) vs. allele b (SJL, SWR) are known. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,574,624 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,949,013 (GRCm39)	E216G	probably benign	Het
Aoc3	C	A	11: 101,228,337 (GRCm39)	P715T	probably damaging	Het
Bnipl	T	C	3: 95,157,140 (GRCm39)	D33G	probably benign	Het
Celsr2	T	C	3: 108,308,903 (GRCm39)	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,531,082 (GRCm39)	H756L	probably benign	Het
Clca4a	A	G	3: 144,675,154 (GRCm39)	W159R	probably damaging	Het
Ddx49	A	T	8: 70,749,574 (GRCm39)	I252N	probably damaging	Het
Duox2	T	C	2: 122,112,317 (GRCm39)	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,565,412 (GRCm39)	I431K	probably damaging	Het
Fam135b	A	T	15: 71,334,133 (GRCm39)	D1020E	probably benign	Het
Flii	A	G	11: 60,610,887 (GRCm39)	V514A	probably damaging	Het
Frmpd1	A	G	4: 45,283,774 (GRCm39)	D865G	probably benign	Het
Frmpd1	G	A	4: 45,256,902 (GRCm39)	V157M	probably damaging	Het
H1f11-ps	T	A	19: 47,158,933 (GRCm39)	K214M	unknown	Het
Hps3	A	T	3: 20,066,940 (GRCm39)	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,234,270 (GRCm39)	I15T	probably benign	Het
Kif2b	T	C	11: 91,466,550 (GRCm39)	R578G	probably benign	Het
Lamb2	A	G	9: 108,361,571 (GRCm39)	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,692,302 (GRCm39)	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,146,477 (GRCm39)	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,306,474 (GRCm39)	W69R	probably benign	Het
Nsd3	C	A	8: 26,190,605 (GRCm39)	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,189,384 (GRCm39)	S150P	probably damaging	Het
Or2g1	A	T	17: 38,106,496 (GRCm39)	K54*	probably null	Het
Or5b116	A	G	19: 13,423,228 (GRCm39)	N284S	probably damaging	Het
Pask	A	T	1: 93,238,556 (GRCm39)	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,710,091 (GRCm39)	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,029,488 (GRCm39)	I700V	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,330,401 (GRCm39)	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,310,833 (GRCm39)	R142*	probably null	Het
Pygl	T	A	12: 70,254,498 (GRCm39)	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,581,110 (GRCm39)	S1285T	probably benign	Het
Rdh13	A	C	7: 4,447,296 (GRCm39)	C10W	probably damaging	Het
Rgr	A	T	14: 36,760,252 (GRCm39)	C273S	probably benign	Het
Ripk4	G	T	16: 97,556,487 (GRCm39)	Y22*	probably null	Het
Slc34a2	G	A	5: 53,222,215 (GRCm39)	W302*	probably null	Het
Smarce1	G	A	11: 99,104,888 (GRCm39)	T263M	probably damaging	Het
Sypl1	C	T	12: 33,017,564 (GRCm39)	P94L	possibly damaging	Het
Tet3	A	G	6: 83,356,924 (GRCm39)	I878T	probably damaging	Het
Tmem232	A	G	17: 65,792,937 (GRCm39)	S87P	probably damaging	Het
Tmem260	A	G	14: 48,709,935 (GRCm39)	T163A	probably benign	Het
Ttn	T	C	2: 76,555,796 (GRCm39)	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 40,927,904 (GRCm39)	M468K	probably benign	Het
Ulk4	A	G	9: 121,081,717 (GRCm39)		probably null	Het
Vmn1r72	A	G	7: 11,403,719 (GRCm39)	F243S	probably benign	Het
Wrap73	A	G	4: 154,229,764 (GRCm39)	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,674,424 (GRCm39)	D119G	unknown	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het

Other mutations in Gsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Gsr	APN	8	34,172,612 (GRCm39)	splice site	probably benign
IGL02481:Gsr	APN	8	34,175,569 (GRCm39)	splice site	probably benign
IGL02941:Gsr	APN	8	34,179,453 (GRCm39)	missense	probably damaging	0.98
IGL03242:Gsr	APN	8	34,175,627 (GRCm39)	missense	probably benign
IGL03293:Gsr	APN	8	34,185,024 (GRCm39)	splice site	probably benign
R0208:Gsr	UTSW	8	34,179,383 (GRCm39)	missense	possibly damaging	0.45
R0490:Gsr	UTSW	8	34,161,540 (GRCm39)	splice site	probably benign
R0492:Gsr	UTSW	8	34,171,603 (GRCm39)	splice site	probably benign
R1104:Gsr	UTSW	8	34,159,949 (GRCm39)	missense	probably damaging	1.00
R1976:Gsr	UTSW	8	34,170,288 (GRCm39)	splice site	probably null
R2507:Gsr	UTSW	8	34,170,316 (GRCm39)	missense	probably benign	0.45
R2508:Gsr	UTSW	8	34,170,316 (GRCm39)	missense	probably benign	0.45
R3726:Gsr	UTSW	8	34,161,565 (GRCm39)	missense	probably benign	0.11
R4573:Gsr	UTSW	8	34,183,881 (GRCm39)	missense	probably benign	0.00
R4623:Gsr	UTSW	8	34,170,333 (GRCm39)	missense	probably damaging	0.99
R4639:Gsr	UTSW	8	34,187,284 (GRCm39)	missense	probably damaging	1.00
R4713:Gsr	UTSW	8	34,170,347 (GRCm39)	critical splice donor site	probably null
R4717:Gsr	UTSW	8	34,183,886 (GRCm39)	nonsense	probably null
R4992:Gsr	UTSW	8	34,183,941 (GRCm39)	missense	probably damaging	1.00
R5099:Gsr	UTSW	8	34,161,556 (GRCm39)	missense	probably damaging	1.00
R6019:Gsr	UTSW	8	34,183,835 (GRCm39)	missense	probably damaging	0.97
R7046:Gsr	UTSW	8	34,185,090 (GRCm39)	missense	probably damaging	1.00
R7570:Gsr	UTSW	8	34,159,193 (GRCm39)	missense	probably damaging	1.00
R8955:Gsr	UTSW	8	34,183,936 (GRCm39)	missense	possibly damaging	0.78
R9362:Gsr	UTSW	8	34,179,406 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCGCTCGTTCATGCAGG -3'
(R):5'- CCAGGAACTGTGAGCTGTGATCTAAAA -3'

Sequencing Primer
(F):5'- caacccacccactctcac -3'
(R):5'- tgtgagctgtgatctaaaataaacc -3'

Posted On

2013-06-12