Mutagenetix > Incidental Mutation

Incidental Mutation 'R7046:Gsr'

547320

Institutional Source

Beutler Lab

Gene Symbol

Gsr

Ensembl Gene

ENSMUSG00000031584

Gene Name

glutathione reductase

Synonyms

D8Ertd238e, Gr-1, Gr1

MMRRC Submission

045144-MU

Accession Numbers

Essential gene?

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

Stock #

R7046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34143266-34188190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34185090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 428 (M428K)

Ref Sequence

ENSEMBL: ENSMUSP00000033992 (fasta)

Gene Model

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

AlphaFold

P47791

Predicted Effect

probably damaging
Transcript: ENSMUST00000033992
AA Change: M428K

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

SMART Domains

Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: M428K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,772,364 (GRCm39)	Y805C	probably damaging	Het
Aoc1l3	T	A	6: 48,964,512 (GRCm39)	D173E	probably benign	Het
Cabp7	T	A	11: 4,688,886 (GRCm39)	I195F	probably damaging	Het
Camsap1	T	C	2: 25,835,201 (GRCm39)	N317S	probably damaging	Het
Ccdc127	T	G	13: 74,500,994 (GRCm39)	L4V	probably damaging	Het
Ccdc7a	T	C	8: 129,774,100 (GRCm39)	E145G	probably damaging	Het
Cdh10	T	A	15: 19,013,287 (GRCm39)	V629D	probably damaging	Het
Cdh23	A	C	10: 60,214,530 (GRCm39)	L1497R	probably damaging	Het
Chsy3	A	G	18: 59,542,875 (GRCm39)	K671R	probably benign	Het
Clca4b	T	C	3: 144,621,367 (GRCm39)	Y569C	probably damaging	Het
Cnga1	T	C	5: 72,786,696 (GRCm39)		probably benign	Het
Cyp51	T	A	5: 4,150,188 (GRCm39)	E178D	probably damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah14	G	T	1: 181,450,568 (GRCm39)	C727F	probably benign	Het
Egf	A	T	3: 129,548,607 (GRCm39)	W3R	unknown	Het
Egfem1	G	A	3: 29,136,364 (GRCm39)		probably null	Het
Epb41l1	G	T	2: 156,368,812 (GRCm39)	V682L	possibly damaging	Het
Etv1	A	G	12: 38,834,369 (GRCm39)		probably null	Het
Faap100	A	G	11: 120,268,200 (GRCm39)	F191S	possibly damaging	Het
Fmo1	T	A	1: 162,667,263 (GRCm39)	D184V	possibly damaging	Het
Ghrl	A	G	6: 113,696,344 (GRCm39)	L16P	probably damaging	Het
Gria4	T	A	9: 4,420,278 (GRCm39)	L861F	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kbtbd12	A	G	6: 88,595,497 (GRCm39)	M111T	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,623 (GRCm39)	Y6*	probably null	Het
Lin9	A	G	1: 180,494,935 (GRCm39)	D219G	probably damaging	Het
Lrrc38	A	G	4: 143,076,739 (GRCm39)	M1V	probably null	Het
Macc1	T	G	12: 119,410,773 (GRCm39)	F514V	probably benign	Het
Madcam1	C	T	10: 79,504,139 (GRCm39)	R242C	probably benign	Het
Mfhas1	T	C	8: 36,131,944 (GRCm39)	S1037P	probably benign	Het
Micall2	C	T	5: 139,694,699 (GRCm39)		probably benign	Het
Mtr	C	A	13: 12,205,095 (GRCm39)	A1122S	possibly damaging	Het
Muc6	T	A	7: 141,226,456 (GRCm39)		probably benign	Het
Myh15	T	A	16: 48,929,662 (GRCm39)	C529*	probably null	Het
Napsa	T	C	7: 44,234,509 (GRCm39)	V247A	probably damaging	Het
Nr2c2	A	G	6: 92,135,338 (GRCm39)	T309A	probably damaging	Het
Or1e26	A	T	11: 73,480,558 (GRCm39)	I2K	probably benign	Het
Or1q1	T	A	2: 36,887,173 (GRCm39)	V117E	probably benign	Het
Or2n1b	A	T	17: 38,459,691 (GRCm39)	M71L	probably benign	Het
Osgepl1	A	T	1: 53,360,710 (GRCm39)	I384F	possibly damaging	Het
Otud4	C	T	8: 80,377,671 (GRCm39)	L111F	possibly damaging	Het
Pds5b	A	G	5: 150,673,385 (GRCm39)	Y481C	probably damaging	Het
Pdzrn4	T	A	15: 92,668,303 (GRCm39)	Y818*	probably null	Het
Pin1rt1	T	C	2: 104,544,767 (GRCm39)	S122G	probably benign	Het
Pkdcc	A	T	17: 83,531,687 (GRCm39)	Y487F	probably damaging	Het
Plxna4	C	T	6: 32,493,440 (GRCm39)	C392Y	probably damaging	Het
Psd4	T	G	2: 24,284,985 (GRCm39)	M283R	probably benign	Het
Ralgds	G	T	2: 28,430,741 (GRCm39)	G68W	probably damaging	Het
Rmdn2	T	A	17: 79,928,808 (GRCm39)	I20N	probably damaging	Het
Sestd1	A	G	2: 77,022,910 (GRCm39)	V486A	probably benign	Het
Skic8	T	A	9: 54,626,539 (GRCm39)	D275V	probably damaging	Het
Spmap2	G	T	10: 79,422,796 (GRCm39)	D35E	probably benign	Het
Tango6	A	G	8: 107,533,748 (GRCm39)	H958R	possibly damaging	Het
Taok3	C	T	5: 117,411,771 (GRCm39)	R857C	probably damaging	Het
Tasor	A	T	14: 27,194,392 (GRCm39)	L1197F	probably damaging	Het
Trio	T	C	15: 27,832,137 (GRCm39)	E1245G	probably damaging	Het
Usp19	C	T	9: 108,374,334 (GRCm39)	H763Y	possibly damaging	Het
Vmn1r185	A	G	7: 26,310,651 (GRCm39)	S285P	probably damaging	Het
Vmn1r45	T	G	6: 89,910,538 (GRCm39)	Y144S	probably benign	Het
Vwa3b	G	A	1: 37,212,959 (GRCm39)	E152K	probably benign	Het
Xrcc5	G	A	1: 72,433,875 (GRCm39)	M731I	probably benign	Het
Zfp619	G	A	7: 39,186,787 (GRCm39)	S939N	possibly damaging	Het
Zfp874a	C	A	13: 67,590,418 (GRCm39)	C422F	probably damaging	Het
Zfp948	A	G	17: 21,808,719 (GRCm39)	D637G	possibly damaging	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
R0524:Gsr	UTSW	8	34,159,208 (GRCm39)	critical splice donor site	probably null
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
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'- CTGTGTCTGACGTGACATGG -3'
(R):5'- ACAGTCACTACATCTGTAACGC -3'

Sequencing Primer
(F):5'- GACATTTATTTTGTAGCGTGCCC -3'
(R):5'- GTCACTACATCTGTAACGCTAAGG -3'

Posted On

2019-05-13