Mutagenetix > Incidental Mutation

Incidental Mutation 'R2089:Grxcr1'

231647

Institutional Source

Beutler Lab

Gene Symbol

Grxcr1

Ensembl Gene

ENSMUSG00000068082

Gene Name

glutaredoxin, cysteine rich 1

Synonyms

pi, tde

MMRRC Submission

040094-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R2089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68189178-68323741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68267755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 168 (I168T)

Ref Sequence

ENSEMBL: ENSMUSP00000092305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094715]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094715
AA Change: I168T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092305
Gene: ENSMUSG00000068082
AA Change: I168T

Domain	Start	End	E-Value	Type
Pfam:Glutaredoxin	145	214	9.7e-11	PFAM

Meta Mutation Damage Score

0.6333

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gbp7	A	T	3: 142,251,316 (GRCm39)		probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Micu3	G	A	8: 40,761,413 (GRCm39)	G108R	probably benign	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Pik3cd	A	G	4: 149,737,156 (GRCm39)	L880P	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Unc80	T	A	1: 66,710,874 (GRCm39)		probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het

Other mutations in Grxcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Grxcr1	APN	5	68,189,540 (GRCm39)	missense	possibly damaging	0.94
IGL00943:Grxcr1	APN	5	68,189,638 (GRCm39)	splice site	probably benign
IGL01092:Grxcr1	APN	5	68,267,905 (GRCm39)	splice site	probably benign
IGL02145:Grxcr1	APN	5	68,267,821 (GRCm39)	missense	probably damaging	1.00
R2091:Grxcr1	UTSW	5	68,267,755 (GRCm39)	missense	probably damaging	1.00
R2091:Grxcr1	UTSW	5	68,267,755 (GRCm39)	missense	probably damaging	1.00
R3018:Grxcr1	UTSW	5	68,267,860 (GRCm39)	missense	probably damaging	1.00
R5388:Grxcr1	UTSW	5	68,323,538 (GRCm39)	missense	probably damaging	1.00
R6103:Grxcr1	UTSW	5	68,323,547 (GRCm39)	missense	possibly damaging	0.94
R6737:Grxcr1	UTSW	5	68,267,835 (GRCm39)	missense	probably damaging	1.00
R6855:Grxcr1	UTSW	5	68,189,437 (GRCm39)	missense	possibly damaging	0.95
R8475:Grxcr1	UTSW	5	68,323,484 (GRCm39)	missense	possibly damaging	0.73
R8677:Grxcr1	UTSW	5	68,267,757 (GRCm39)	missense	possibly damaging	0.58
X0025:Grxcr1	UTSW	5	68,189,237 (GRCm39)	missense	possibly damaging	0.96
Z1191:Grxcr1	UTSW	5	68,323,532 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCCGTTCAACCTTTGTGAG -3'
(R):5'- CGCAAAGGCAGTTTTCTTCTGTG -3'

Sequencing Primer
(F):5'- GACACTTACCCGAAGCTGTTAATTC -3'
(R):5'- GGTATACTTACCCCAAGATAATGGC -3'

Posted On

2014-09-18