Mutagenetix > Incidental Mutation

Incidental Mutation 'R5952:Glrx2'

470929

Institutional Source

Beutler Lab

Gene Symbol

Glrx2

Ensembl Gene

ENSMUSG00000018196

Gene Name

glutaredoxin 2

Synonyms

Grx2, thioltransferase, 1700010P22Rik

MMRRC Submission

044142-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143614787-143625416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143620872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 84 (N84D)

Ref Sequence

ENSEMBL: ENSMUSP00000141022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050491] [ENSMUST00000111957] [ENSMUST00000129653] [ENSMUST00000145571] [ENSMUST00000145969] [ENSMUST00000185362]

AlphaFold

Q923X4

Predicted Effect

probably benign
Transcript: ENSMUST00000050491

SMART Domains

Protein: ENSMUSP00000053443
Gene: ENSMUSG00000018196

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
Pfam:Glutaredoxin	62	124	1.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111957
AA Change: N51D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107588
Gene: ENSMUSG00000018196
AA Change: N51D

Domain	Start	End	E-Value	Type
Pfam:Glutaredoxin	29	91	8.3e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126514

Predicted Effect

probably benign
Transcript: ENSMUST00000129653
AA Change: N51D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121010
Gene: ENSMUSG00000018196
AA Change: N51D

Domain	Start	End	E-Value	Type
Pfam:Glutaredoxin	29	91	8.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145571
AA Change: N84D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000115893
Gene: ENSMUSG00000018196
AA Change: N84D

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
Pfam:Glutaredoxin	62	117	1.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145969
AA Change: N51D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121665
Gene: ENSMUSG00000018196
AA Change: N51D

Domain	Start	End	E-Value	Type
Pfam:Glutaredoxin	29	91	8.3e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188783

Predicted Effect

probably benign
Transcript: ENSMUST00000185362
AA Change: N84D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000141022
Gene: ENSMUSG00000018196
AA Change: N84D

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
Pfam:Glutaredoxin	62	124	1.6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149103

Meta Mutation Damage Score

0.1941

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

91% (62/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,086,728 (GRCm39)	D296V	probably damaging	Het
Ak9	A	G	10: 41,233,559 (GRCm39)	E599G	possibly damaging	Het
Ank3	A	T	10: 69,822,293 (GRCm39)	I1604F	probably benign	Het
Arid4a	A	G	12: 71,109,980 (GRCm39)	D107G	probably benign	Het
Bltp1	A	G	3: 37,019,770 (GRCm39)	T2060A	probably damaging	Het
Btn2a2	A	T	13: 23,666,978 (GRCm39)	I209N	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,596,901 (GRCm39)	V1979A	probably damaging	Het
Cyp4a12b	C	T	4: 115,271,714 (GRCm39)	R142*	probably null	Het
Ddx23	A	T	15: 98,556,121 (GRCm39)	S66T	unknown	Het
Efcab2	A	G	1: 178,303,439 (GRCm39)	K121R	probably benign	Het
Epb41l1	T	A	2: 156,345,708 (GRCm39)	V237D	probably damaging	Het
Epb41l1	G	T	2: 156,366,903 (GRCm39)	A579S	probably benign	Het
Epn1	G	A	7: 5,096,911 (GRCm39)	R231H	probably damaging	Het
Fbrs	T	C	7: 127,086,924 (GRCm39)	S649P	probably damaging	Het
Fezf1	A	G	6: 23,247,427 (GRCm39)	V216A	probably benign	Het
Gen1	A	T	12: 11,310,897 (GRCm39)	S112T	probably damaging	Het
Gm1818	T	G	12: 48,602,719 (GRCm39)		noncoding transcript	Het
Hira	C	A	16: 18,753,815 (GRCm39)	T553K	possibly damaging	Het
Hnrnph3	A	G	10: 62,851,374 (GRCm39)		probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Jcad	A	G	18: 4,674,554 (GRCm39)	Q772R	probably damaging	Het
Lamb3	A	G	1: 193,014,670 (GRCm39)	T610A	probably benign	Het
Map3k19	T	C	1: 127,750,477 (GRCm39)	D958G	probably benign	Het
Map4k4	G	A	1: 40,039,082 (GRCm39)		probably benign	Het
Mocos	T	C	18: 24,834,444 (GRCm39)	V827A	possibly damaging	Het
Ms4a10	T	A	19: 10,941,486 (GRCm39)	D161V	probably damaging	Het
Myh9	A	G	15: 77,657,532 (GRCm39)	I1071T	possibly damaging	Het
Myo15a	A	G	11: 60,370,246 (GRCm39)	E1002G	possibly damaging	Het
Neurod6	G	A	6: 55,656,002 (GRCm39)	H212Y	probably damaging	Het
Or2v1	A	T	11: 49,025,399 (GRCm39)	I95F	probably damaging	Het
Or52z13	T	A	7: 103,247,174 (GRCm39)	I217N	probably damaging	Het
Or5b12	T	C	19: 12,897,194 (GRCm39)	N160D	probably benign	Het
Pcdhb17	T	C	18: 37,620,133 (GRCm39)	V641A	probably benign	Het
Ppp3ca	A	T	3: 136,634,332 (GRCm39)	M431L	probably benign	Het
Ptprk	A	T	10: 28,461,671 (GRCm39)	I69F	probably damaging	Het
Rab34	G	T	11: 78,081,094 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,318,406 (GRCm39)	N619S	probably benign	Het
Rnf169	T	C	7: 99,574,840 (GRCm39)	H585R	probably damaging	Het
Rps6kc1	A	G	1: 190,617,617 (GRCm39)	V129A	probably benign	Het
Siglecf	C	T	7: 43,005,351 (GRCm39)	T437M	probably benign	Het
Slc25a2	T	C	18: 37,771,335 (GRCm39)	N65D	probably benign	Het
Spire1	A	G	18: 67,639,779 (GRCm39)	S245P	probably benign	Het
Sptb	A	T	12: 76,679,158 (GRCm39)	M99K	probably benign	Het
Tacc1	G	T	8: 25,672,011 (GRCm39)	L406I	possibly damaging	Het
Tas2r140	T	C	6: 40,468,476 (GRCm39)	I102T	probably benign	Het
Trappc11	A	T	8: 47,949,952 (GRCm39)		probably null	Het
Trbv11	A	G	6: 41,084,153 (GRCm39)		noncoding transcript	Het
Trmt11	A	G	10: 30,436,838 (GRCm39)	Y301H	probably benign	Het
Tspo	A	G	15: 83,456,441 (GRCm39)	T75A	possibly damaging	Het
Ttn	T	C	2: 76,710,569 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,462,030 (GRCm39)	Q1210R	probably damaging	Het
Zhx3	A	T	2: 160,623,937 (GRCm39)	Y77N	probably damaging	Het

Other mutations in Glrx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02161:Glrx2	APN	1	143,615,421 (GRCm39)	missense	possibly damaging	0.66
R1728:Glrx2	UTSW	1	143,615,478 (GRCm39)	missense	possibly damaging	0.90
R1762:Glrx2	UTSW	1	143,615,478 (GRCm39)	missense	possibly damaging	0.90
R1783:Glrx2	UTSW	1	143,615,478 (GRCm39)	missense	possibly damaging	0.90
R1784:Glrx2	UTSW	1	143,615,478 (GRCm39)	missense	possibly damaging	0.90
R1785:Glrx2	UTSW	1	143,615,478 (GRCm39)	missense	possibly damaging	0.90
R2132:Glrx2	UTSW	1	143,620,842 (GRCm39)	missense	possibly damaging	0.92
R4362:Glrx2	UTSW	1	143,617,418 (GRCm39)	missense	possibly damaging	0.71
R5418:Glrx2	UTSW	1	143,615,446 (GRCm39)	missense	possibly damaging	0.83
R5496:Glrx2	UTSW	1	143,620,945 (GRCm39)	missense	probably damaging	0.98
R6225:Glrx2	UTSW	1	143,621,121 (GRCm39)	intron	probably benign
R9506:Glrx2	UTSW	1	143,622,270 (GRCm39)	nonsense	probably null
R9683:Glrx2	UTSW	1	143,622,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACACGTCACTGGAGCAC -3'
(R):5'- TGCTAGCAGGAAAGTCTAGTGTC -3'

Sequencing Primer
(F):5'- ACCGCAGAATCATAATCCTTTTAC -3'
(R):5'- AAGTCTAGTGTCCGGGGAG -3'

Posted On

2017-03-31