Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Glrx2'

427823

Institutional Source

Beutler Lab

Gene Symbol

Glrx2

Ensembl Gene

ENSMUSG00000018196

Gene Name

glutaredoxin 2

Synonyms

Grx2, thioltransferase, 1700010P22Rik

MMRRC Submission

042986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5418 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

143614787-143625416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143615446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 16 (S16R)

Ref Sequence

ENSEMBL: ENSMUSP00000053443 (fasta)

Gene Model

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

AlphaFold

Q923X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050491
AA Change: S16R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053443
Gene: ENSMUSG00000018196
AA Change: S16R

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

SMART Domains

Protein: ENSMUSP00000107588
Gene: ENSMUSG00000018196

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

SMART Domains

Protein: ENSMUSP00000121010
Gene: ENSMUSG00000018196

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

Predicted Effect

unknown
Transcript: ENSMUST00000145571
AA Change: S16R

SMART Domains

Protein: ENSMUSP00000115893
Gene: ENSMUSG00000018196
AA Change: S16R

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

SMART Domains

Protein: ENSMUSP00000121665
Gene: ENSMUSG00000018196

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: ENSMUST00000149103

Predicted Effect

probably benign
Transcript: ENSMUST00000185362
AA Change: S16R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141022
Gene: ENSMUSG00000018196
AA Change: S16R

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

Meta Mutation Damage Score

0.0900

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,244,738 (GRCm39)	S205P	probably damaging	Het
Abcc1	T	C	16: 14,278,996 (GRCm39)	V1102A	probably benign	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Acoxl	T	A	2: 127,719,722 (GRCm39)	M161K	probably benign	Het
Adamts4	T	A	1: 171,080,143 (GRCm39)	V35E	probably damaging	Het
Add2	A	G	6: 86,087,894 (GRCm39)	S614G	probably benign	Het
Adgrv1	T	A	13: 81,567,427 (GRCm39)	I5249L	probably benign	Het
Agps	A	G	2: 75,689,248 (GRCm39)	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,732,584 (GRCm39)		noncoding transcript	Het
Ankrd24	T	A	10: 81,480,776 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,733 (GRCm39)	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,547,027 (GRCm39)	Y232C	probably damaging	Het
Bptf	A	G	11: 107,002,120 (GRCm39)	Y331H	probably damaging	Het
Ccr10	C	T	11: 101,064,904 (GRCm39)	V209M	probably benign	Het
Cflar	A	T	1: 58,791,810 (GRCm39)	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931 (GRCm39)		probably benign	Het
Crlf2	A	G	5: 109,704,899 (GRCm39)	V104A	probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,281,935 (GRCm39)		probably null	Het
Dnah17	C	A	11: 117,985,810 (GRCm39)	E1422D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Efcab11	A	G	12: 99,821,877 (GRCm39)	L80S	possibly damaging	Het
Emc8	G	A	8: 121,385,342 (GRCm39)	T130M	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Erc2	A	G	14: 27,688,467 (GRCm39)	M196V	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fam120b	C	T	17: 15,622,061 (GRCm39)	T13M	probably damaging	Het
Fam234b	A	G	6: 135,203,966 (GRCm39)	K423E	probably benign	Het
Fcgbp	G	A	7: 27,784,738 (GRCm39)	G266D	probably damaging	Het
Fndc4	A	T	5: 31,451,978 (GRCm39)	S146R	probably benign	Het
Frmd3	G	A	4: 74,079,935 (GRCm39)		probably null	Het
Gm26526	T	G	7: 39,238,358 (GRCm39)		noncoding transcript	Het
Hc	C	T	2: 34,898,195 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,787,313 (GRCm39)	C1695R	probably damaging	Het
Hic1	A	G	11: 75,057,425 (GRCm39)		probably null	Het
Igkv4-92	A	T	6: 68,732,564 (GRCm39)	V5E	possibly damaging	Het
Irs1	G	A	1: 82,266,491 (GRCm39)	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,283 (GRCm39)	Y143*	probably null	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klra6	T	A	6: 129,990,393 (GRCm39)	L239F	probably damaging	Het
Lhx6	A	G	2: 35,977,378 (GRCm39)		probably null	Het
Lrrc34	G	A	3: 30,696,923 (GRCm39)	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,790,591 (GRCm39)	K321*	probably null	Het
Mapk14	T	C	17: 28,960,817 (GRCm39)	V196A	possibly damaging	Het
Matcap2	G	T	9: 22,343,066 (GRCm39)	R187L	probably damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,270,045 (GRCm39)	L711P	probably damaging	Het
Mylk	T	C	16: 34,732,600 (GRCm39)	S627P	probably benign	Het
Nbea	A	T	3: 55,553,410 (GRCm39)	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,524,035 (GRCm39)	V153A	probably damaging	Het
Or4a79	T	C	2: 89,552,343 (GRCm39)	I37M	probably benign	Het
Pax6	A	T	2: 105,521,910 (GRCm39)	D175V	probably benign	Het
Piezo1	A	G	8: 123,213,519 (GRCm39)	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,140,506 (GRCm39)	V404A	probably benign	Het
Plxnb2	A	G	15: 89,050,694 (GRCm39)	Y421H	probably benign	Het
Prkdc	T	G	16: 15,612,961 (GRCm39)	V3173G	probably benign	Het
Prss40	A	T	1: 34,599,840 (GRCm39)	I49N	probably benign	Het
Prx	T	A	7: 27,216,699 (GRCm39)	V400E	probably damaging	Het
Rbm11	A	C	16: 75,393,423 (GRCm39)	T40P	probably damaging	Het
Resf1	T	C	6: 149,227,634 (GRCm39)	Y227H	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,569,820 (GRCm39)	Y70H	probably damaging	Het
Senp6	G	A	9: 80,029,151 (GRCm39)	E505K	possibly damaging	Het
Slc25a3	T	C	10: 90,955,398 (GRCm39)	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280 (GRCm38)	S572T	probably benign	Het
Smarcal1	C	T	1: 72,638,068 (GRCm39)	P501S	probably benign	Het
Sox7	C	T	14: 64,185,396 (GRCm39)	T144M	probably benign	Het
Taar1	T	C	10: 23,797,214 (GRCm39)	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,263,517 (GRCm39)	F46L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tpcn2	C	T	7: 144,832,518 (GRCm39)	E113K	probably damaging	Het
Vmn1r232	T	A	17: 21,134,378 (GRCm39)	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,914,415 (GRCm39)	T660I	probably damaging	Het
Zdhhc3	A	G	9: 122,909,456 (GRCm39)	M234T	probably damaging	Het
Zfp960	T	A	17: 17,307,805 (GRCm39)	L173H	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
R5496:Glrx2	UTSW	1	143,620,945 (GRCm39)	missense	probably damaging	0.98
R5952:Glrx2	UTSW	1	143,620,872 (GRCm39)	missense	probably benign	0.03
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'- TCGGGAGAACTCGGTAGAGATC -3'
(R):5'- ACGCTGAGTTAAAACCACATGC -3'

Sequencing Primer
(F):5'- AGGTGAGTGCCTCGCTCTAC -3'
(R):5'- CCACATGCTGTATTTGTTAAGCTCAG -3'

Posted On

2016-09-01