Mutagenetix > Incidental Mutation

Incidental Mutation 'R4623:Gsr'

346335

Institutional Source

Beutler Lab

Gene Symbol

Gsr

Ensembl Gene

ENSMUSG00000031584

Gene Name

glutathione reductase

Synonyms

D8Ertd238e, Gr-1, Gr1

MMRRC Submission

041888-MU

Accession Numbers

Essential gene?

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

Stock #

R4623 (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 34170333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 206 (E206G)

Ref Sequence

ENSEMBL: ENSMUSP00000033992 (fasta)

Gene Model

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

AlphaFold

P47791

Predicted Effect

probably damaging
Transcript: ENSMUST00000033992
AA Change: E206G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: E206G

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

Meta Mutation Damage Score

0.5953

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	T	C	12: 11,272,141 (GRCm39)		noncoding transcript	Het
A930003A15Rik	C	T	16: 19,702,487 (GRCm39)		noncoding transcript	Het
Abca13	A	G	11: 9,259,130 (GRCm39)	Y2952C	probably damaging	Het
Actrt2	T	C	4: 154,751,747 (GRCm39)	T130A	probably benign	Het
Adamts7	T	A	9: 90,068,515 (GRCm39)	D475E	probably benign	Het
Adgrf5	A	G	17: 43,761,874 (GRCm39)	S1190G	probably benign	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Aldoc	T	C	11: 78,215,947 (GRCm39)	V151A	probably damaging	Het
Arsj	A	T	3: 126,158,445 (GRCm39)	E8V	probably benign	Het
Asph	T	C	4: 9,622,005 (GRCm39)	K167E	possibly damaging	Het
Auts2	G	A	5: 131,469,221 (GRCm39)	P475S	probably benign	Het
C1d	A	G	11: 17,212,742 (GRCm39)	D29G	possibly damaging	Het
Calb1	T	A	4: 15,895,721 (GRCm39)		probably benign	Het
Ceacam15	A	T	7: 16,407,391 (GRCm39)	F42Y	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cts6	A	T	13: 61,349,974 (GRCm39)	Y36N	possibly damaging	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Cyp2a22	G	T	7: 26,632,916 (GRCm39)	P429T	probably damaging	Het
Dipk2a	T	C	9: 94,402,451 (GRCm39)	N404D	possibly damaging	Het
Dock3	T	C	9: 106,939,244 (GRCm39)	E168G	possibly damaging	Het
Dot1l	A	G	10: 80,617,984 (GRCm39)	N324S	probably benign	Het
Dusp13b	A	C	14: 21,793,546 (GRCm39)		probably benign	Het
Eif4g1	T	A	16: 20,500,095 (GRCm39)		probably benign	Het
Fan1	G	T	7: 64,023,301 (GRCm39)	Y121*	probably null	Het
Foxn4	T	C	5: 114,398,991 (GRCm39)	E80G	possibly damaging	Het
Gal3st2c	C	A	1: 93,937,178 (GRCm39)	H374Q	possibly damaging	Het
Gm973	A	T	1: 59,595,435 (GRCm39)	I409F	probably damaging	Het
Gpr18	T	A	14: 122,149,579 (GRCm39)	T149S	probably damaging	Het
Hal	A	G	10: 93,343,301 (GRCm39)	H515R	probably damaging	Het
Heatr5b	A	G	17: 79,102,548 (GRCm39)	S1277P	possibly damaging	Het
Hmcn2	A	G	2: 31,286,722 (GRCm39)	E2125G	probably damaging	Het
Ikzf4	A	G	10: 128,476,988 (GRCm39)	C108R	probably damaging	Het
Kcnh2	A	G	5: 24,553,440 (GRCm39)	V59A	probably benign	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Kif11	A	T	19: 37,398,195 (GRCm39)	I674L	probably benign	Het
Lrp1b	A	T	2: 41,136,033 (GRCm39)	C1646S	probably damaging	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mib1	C	A	18: 10,808,086 (GRCm39)	N944K	probably benign	Het
Mical3	C	A	6: 120,938,586 (GRCm39)	E262*	probably null	Het
Mms22l	C	T	4: 24,502,792 (GRCm39)	Q55*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrps11	T	C	7: 78,441,689 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ncapd2	A	G	6: 125,150,572 (GRCm39)	V843A	probably benign	Het
Nell1	A	G	7: 49,770,310 (GRCm39)	E123G	possibly damaging	Het
Nkd1	A	G	8: 89,316,383 (GRCm39)	D213G	probably benign	Het
Nlrp1b	T	C	11: 71,052,669 (GRCm39)	T920A	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or6c208	G	A	10: 129,223,915 (GRCm39)	V138M	probably benign	Het
Or8k40	T	A	2: 86,584,906 (GRCm39)	M59L	possibly damaging	Het
Pde8b	C	T	13: 95,178,447 (GRCm39)	A566T	possibly damaging	Het
Pds5b	T	A	5: 150,724,066 (GRCm39)	S1214R	probably benign	Het
Pld1	T	C	3: 28,083,393 (GRCm39)	I171T	probably benign	Het
Plekha5	T	A	6: 140,496,912 (GRCm39)	V154E	probably damaging	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Proc	T	A	18: 32,260,526 (GRCm39)	T200S	probably benign	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Ptger2	G	A	14: 45,226,471 (GRCm39)	R17H	possibly damaging	Het
Rab42	A	G	4: 132,030,504 (GRCm39)	F49L	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rdh10	G	A	1: 16,201,287 (GRCm39)		probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Sftpc	T	C	14: 70,759,718 (GRCm39)		probably null	Het
Shcbp1	A	C	8: 4,789,178 (GRCm39)	V547G	probably damaging	Het
Slc6a13	T	C	6: 121,302,104 (GRCm39)	S229P	probably damaging	Het
Soat2	A	T	15: 102,066,144 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,867,079 (GRCm39)	K294E	probably benign	Het
Tcim	C	A	8: 24,928,725 (GRCm39)	R63L	probably damaging	Het
Tek	G	A	4: 94,751,898 (GRCm39)	V1013I	probably damaging	Het
Tg	T	A	15: 66,607,120 (GRCm39)	M219K	probably benign	Het
Tie1	A	G	4: 118,343,808 (GRCm39)	S45P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Tram1l1	T	A	3: 124,115,509 (GRCm39)	M223K	possibly damaging	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Uspl1	T	A	5: 149,151,405 (GRCm39)	D669E	probably damaging	Het
Vav1	C	A	17: 57,606,839 (GRCm39)		probably null	Het
Vcl	A	T	14: 21,065,007 (GRCm39)	E634V	probably benign	Het
Zfp672	A	T	11: 58,207,281 (GRCm39)	C347S	probably benign	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
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'- ACAGTGCATTTTCTGAGAGTTG -3'
(R):5'- CCGAAACACTTAGGGTAGATCATGC -3'

Sequencing Primer
(F):5'- GTTCTGGCTAAACATGACCGC -3'
(R):5'- CACTTAGGGTAGATCATGCTGAGAC -3'

Posted On

2015-09-25