Mutagenetix > Incidental Mutation

Incidental Mutation 'R6483:Grxcr2'

517230

Institutional Source

Beutler Lab

Gene Symbol

Grxcr2

Ensembl Gene

ENSMUSG00000073574

Gene Name

glutaredoxin, cysteine rich 2

Synonyms

LOC332309

MMRRC Submission

044615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42118388-42132114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42124955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 151 (V151E)

Ref Sequence

ENSEMBL: ENSMUSP00000095198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097591]

AlphaFold

Q3TYR5

Predicted Effect

probably benign
Transcript: ENSMUST00000097591
AA Change: V151E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	G	14: 29,700,538 (GRCm39)	L39R	possibly damaging	Het
Amer3	T	C	1: 34,626,771 (GRCm39)	S337P	probably damaging	Het
Arhgef10l	A	T	4: 140,344,226 (GRCm39)	I12K	probably damaging	Het
Atp2b4	A	G	1: 133,657,618 (GRCm39)	V624A	possibly damaging	Het
BB014433	A	T	8: 15,092,208 (GRCm39)	L215Q	probably benign	Het
Bod1l	A	G	5: 41,978,425 (GRCm39)	V963A	probably benign	Het
Bpifa6	T	C	2: 153,832,354 (GRCm39)	L287S	probably benign	Het
Bsnd	A	T	4: 106,345,212 (GRCm39)	L78Q	probably damaging	Het
C1qtnf3	T	C	15: 10,958,156 (GRCm39)		probably null	Het
Ccdc180	T	G	4: 45,921,950 (GRCm39)	V1008G	probably benign	Het
Ccl1	T	G	11: 82,068,860 (GRCm39)	D59A	possibly damaging	Het
Cfap58	T	C	19: 47,971,891 (GRCm39)	I607T	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cntnap4	C	T	8: 113,484,105 (GRCm39)	P386L	possibly damaging	Het
Col1a1	G	A	11: 94,833,444 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,085,003 (GRCm39)	D798E	probably damaging	Het
Eml6	T	G	11: 29,699,875 (GRCm39)	I1754L	probably benign	Het
Ercc8	T	A	13: 108,320,344 (GRCm39)	V310D	probably damaging	Het
Fat2	G	A	11: 55,187,171 (GRCm39)	T1225I	probably damaging	Het
Gba1	A	G	3: 89,115,910 (GRCm39)	Y510C	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm43302	T	A	5: 105,423,726 (GRCm39)	M416L	probably benign	Het
Gtf2ird2	A	G	5: 134,240,066 (GRCm39)	N296S	probably benign	Het
Herc1	T	A	9: 66,355,811 (GRCm39)	I2354N	possibly damaging	Het
Inhbc	G	A	10: 127,193,309 (GRCm39)	R236*	probably null	Het
Itpr2	T	C	6: 146,013,975 (GRCm39)	D2607G	possibly damaging	Het
Kcnh7	T	A	2: 62,676,118 (GRCm39)	D298V	probably benign	Het
Klrb1c	A	G	6: 128,761,148 (GRCm39)	S160P	probably benign	Het
Mrgpra2a	C	G	7: 47,076,437 (GRCm39)	E274Q	probably benign	Het
Muc5ac	T	A	7: 141,356,591 (GRCm39)	F1059L	probably benign	Het
Naglu	T	C	11: 100,962,007 (GRCm39)	I160T	probably damaging	Het
Nasp	A	T	4: 116,476,145 (GRCm39)	L47Q	probably damaging	Het
Opa1	C	T	16: 29,447,525 (GRCm39)	T873I	possibly damaging	Het
Or10a3n	C	T	7: 108,493,318 (GRCm39)	V99M	possibly damaging	Het
Or52x1	T	C	7: 104,853,500 (GRCm39)	T17A	probably benign	Het
Or8u10	C	A	2: 85,915,784 (GRCm39)	M112I	probably benign	Het
Pttg1	A	G	11: 43,315,671 (GRCm39)	F48L	probably damaging	Het
Rho	T	C	6: 115,909,218 (GRCm39)	F85L	possibly damaging	Het
Rnasel	T	C	1: 153,630,432 (GRCm39)	V316A	probably benign	Het
Slc36a3	A	G	11: 55,026,089 (GRCm39)	I243T	probably benign	Het
Tada2b	G	A	5: 36,634,029 (GRCm39)	T183M	possibly damaging	Het
Tbc1d22a	A	G	15: 86,185,768 (GRCm39)	M286V	possibly damaging	Het
Trim69	G	T	2: 121,998,081 (GRCm39)	E18*	probably null	Het
Ttn	T	C	2: 76,772,394 (GRCm39)	T2503A	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp654	T	A	16: 64,612,310 (GRCm39)	N192I	possibly damaging	Het
Zfp809	G	A	9: 22,147,540 (GRCm39)	R58H	probably benign	Het

Other mutations in Grxcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Grxcr2	APN	18	42,132,047 (GRCm39)	missense	probably damaging	1.00
IGL02823:Grxcr2	APN	18	42,125,046 (GRCm39)	missense	probably damaging	1.00
R3625:Grxcr2	UTSW	18	42,131,883 (GRCm39)	missense	probably damaging	0.97
R4452:Grxcr2	UTSW	18	42,119,609 (GRCm39)	missense	probably damaging	1.00
R5317:Grxcr2	UTSW	18	42,131,916 (GRCm39)	missense	probably damaging	0.99
R6054:Grxcr2	UTSW	18	42,119,743 (GRCm39)	missense	probably benign	0.01
R6493:Grxcr2	UTSW	18	42,131,766 (GRCm39)	missense	possibly damaging	0.52
R8702:Grxcr2	UTSW	18	42,131,754 (GRCm39)	missense	possibly damaging	0.92
R9666:Grxcr2	UTSW	18	42,131,956 (GRCm39)	missense	probably damaging	1.00
R9703:Grxcr2	UTSW	18	42,124,988 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AATCTGCAGGCCATTGCTG -3'
(R):5'- AGGTGCAAAGCCCTCTTAG -3'

Sequencing Primer
(F):5'- AGGCCATTGCTGCAGGG -3'
(R):5'- AGGTGCAAAGCCCTCTTAGTTCTC -3'

Posted On

2018-05-21