Mutagenetix > Incidental Mutation

Incidental Mutation 'R1104:Gsr'

98369

Institutional Source

Beutler Lab

Gene Symbol

Gsr

Ensembl Gene

ENSMUSG00000031584

Gene Name

glutathione reductase

Synonyms

D8Ertd238e, Gr-1, Gr1

MMRRC Submission

039177-MU

Accession Numbers

Essential gene?

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

Stock #

R1104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34143266-34188190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34159949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 99 (E99G)

Ref Sequence

ENSEMBL: ENSMUSP00000033992 (fasta)

Gene Model

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

AlphaFold

P47791

Predicted Effect

probably damaging
Transcript: ENSMUST00000033992
AA Change: E99G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: E99G

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

Meta Mutation Damage Score

0.8566

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930550C14Rik	A	G	9: 53,332,917 (GRCm39)	I93V	probably benign	Het
Abcg5	A	C	17: 84,989,477 (GRCm39)	I77S	possibly damaging	Het
Adam3	T	C	8: 25,171,545 (GRCm39)	Y762C	probably benign	Het
Agap1	T	C	1: 89,716,962 (GRCm39)	S26P	probably damaging	Het
Ago1	T	C	4: 126,347,426 (GRCm39)	Y441C	probably damaging	Het
B3gnt3	A	G	8: 72,146,481 (GRCm39)	L16S	possibly damaging	Het
Btaf1	T	A	19: 36,982,002 (GRCm39)	D1677E	probably damaging	Het
Cd5l	T	A	3: 87,268,206 (GRCm39)	S18T	probably benign	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Cfap61	C	A	2: 145,792,981 (GRCm39)	S64*	probably null	Het
Cryzl2	T	A	1: 157,298,174 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dhrs1	T	C	14: 55,981,162 (GRCm39)	K83E	probably benign	Het
Dmrt2	T	A	19: 25,655,980 (GRCm39)	F526L	probably benign	Het
Dnajb14	T	A	3: 137,614,115 (GRCm39)	M342K	possibly damaging	Het
Dpf3	A	G	12: 83,378,761 (GRCm39)	V101A	probably benign	Het
Dthd1	A	C	5: 62,979,302 (GRCm39)	T321P	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fras1	G	A	5: 96,856,530 (GRCm39)	R1971Q	probably benign	Het
Fry	A	G	5: 150,419,754 (GRCm39)	N608S	probably damaging	Het
Gabrr3	T	A	16: 59,281,998 (GRCm39)	V451D	probably damaging	Het
Glg1	A	G	8: 111,924,235 (GRCm39)	L251P	probably benign	Het
Gli2	T	A	1: 118,781,080 (GRCm39)	S222C	probably damaging	Het
H1f5	T	C	13: 21,964,451 (GRCm39)	T92A	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hus1b	T	C	13: 31,131,679 (GRCm39)		probably benign	Het
Igf1r	T	A	7: 67,844,774 (GRCm39)	I849N	possibly damaging	Het
Itih5	A	G	2: 10,256,323 (GRCm39)	T930A	probably benign	Het
Ivns1abp	T	A	1: 151,235,860 (GRCm39)	M309K	probably benign	Het
Kdm3b	T	A	18: 34,952,864 (GRCm39)	F1078Y	probably damaging	Het
Krt12	C	A	11: 99,312,792 (GRCm39)	G84V	unknown	Het
Krt40	T	G	11: 99,431,059 (GRCm39)	E150A	probably damaging	Het
Lcn11	G	T	2: 25,669,115 (GRCm39)		probably benign	Het
Lcor	G	T	19: 41,574,502 (GRCm39)	G1086C	probably damaging	Het
Liph	A	G	16: 21,802,898 (GRCm39)	I57T	possibly damaging	Het
Lrrc46	C	T	11: 96,926,997 (GRCm39)	V107M	probably damaging	Het
Ltb4r1	T	C	14: 56,004,832 (GRCm39)	I45T	probably damaging	Het
Mapkbp1	A	G	2: 119,841,554 (GRCm39)		probably benign	Het
Mark3	C	T	12: 111,584,831 (GRCm39)		probably benign	Het
Mug2	C	T	6: 122,036,014 (GRCm39)	A642V	probably benign	Het
Myh11	A	G	16: 14,019,991 (GRCm39)	S1814P	possibly damaging	Het
Ndst1	T	A	18: 60,830,218 (GRCm39)	S631C	probably damaging	Het
Nrbf2	A	T	10: 67,103,691 (GRCm39)	D137E	possibly damaging	Het
Or2ag16	A	T	7: 106,351,989 (GRCm39)	M202K	probably benign	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or6c208	T	A	10: 129,224,090 (GRCm39)	M196K	probably benign	Het
Parn	A	G	16: 13,485,449 (GRCm39)	Y16H	probably damaging	Het
Parp14	A	G	16: 35,664,785 (GRCm39)		probably benign	Het
Prl3d1	C	T	13: 27,283,992 (GRCm39)	T187I	probably benign	Het
Ptgir	G	A	7: 16,641,055 (GRCm39)		probably null	Het
Rabgap1l	C	T	1: 160,059,445 (GRCm39)		probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnf213	T	C	11: 119,368,055 (GRCm39)	Y4697H	probably benign	Het
Rps6ka4	T	A	19: 6,808,364 (GRCm39)	I598F	probably damaging	Het
Ryr2	C	T	13: 11,684,855 (GRCm39)	V3029M	probably damaging	Het
Slc34a1	T	C	13: 24,003,920 (GRCm39)	F335S	probably damaging	Het
Spata6l	T	C	19: 28,945,032 (GRCm39)	M1V	probably null	Het
Stau2	A	T	1: 16,510,585 (GRCm39)	Y124*	probably null	Het
Tbl3	A	G	17: 24,920,580 (GRCm39)	I652T	probably benign	Het
Trappc3	C	T	4: 126,166,759 (GRCm39)		probably benign	Het
Trim60	A	T	8: 65,454,071 (GRCm39)	F59L	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,648,453 (GRCm39)	F4686S	probably benign	Het
Vcan	T	C	13: 89,840,529 (GRCm39)	T1672A	probably damaging	Het
Vmn1r215	T	A	13: 23,260,758 (GRCm39)	I266N	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,487 (GRCm39)	V657E	possibly damaging	Het
Wdr95	G	T	5: 149,529,802 (GRCm39)	A548S	probably benign	Het
Zfp12	A	G	5: 143,231,500 (GRCm39)	Y609C	probably damaging	Het
Znfx1	C	A	2: 166,897,560 (GRCm39)	E455*	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
R0524:Gsr	UTSW	8	34,159,208 (GRCm39)	critical splice donor site	probably null
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'- CACCATTTCCCCGATATTTCAGAATCCA -3'
(R):5'- TCTAGCACAGGACAGGTCAGCTTT -3'

Sequencing Primer
(F):5'- gttgttttgttgttgttgttgttg -3'
(R):5'- ggtagggaagtagggcataaag -3'

Posted On

2014-01-05