Mutagenetix > Incidental Mutation

Incidental Mutation 'R5275:Ears2'

403887

Institutional Source

Beutler Lab

Gene Symbol

Ears2

Ensembl Gene

ENSMUSG00000030871

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Synonyms

3230401I01Rik

MMRRC Submission

042838-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121636436-121666486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121647421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 288 (R288G)

Ref Sequence

ENSEMBL: ENSMUSP00000033159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033159]

AlphaFold

Q9CXJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000033159
AA Change: R288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871
AA Change: R288G

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1c	36	353	3.5e-88	PFAM
low complexity region	448	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151530

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in a similar gene in human have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,092,856 (GRCm39)	R155H	probably benign	Het
Abcc1	C	T	16: 14,284,050 (GRCm39)	L1222F	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Apold1	G	T	6: 134,960,763 (GRCm39)	L72F	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Becn2	A	G	1: 175,748,336 (GRCm39)	H134R	probably benign	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Chd6	A	G	2: 160,811,283 (GRCm39)	L1440P	probably benign	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Cma1	A	T	14: 56,179,157 (GRCm39)	I233N	probably damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Dst	T	C	1: 34,219,229 (GRCm39)	S1890P	probably benign	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm5117	T	A	8: 32,229,595 (GRCm39)		noncoding transcript	Het
H2-T5	T	C	17: 36,472,567 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Opa1	C	T	16: 29,430,397 (GRCm39)	T451I	probably damaging	Het
Or2bd2	A	T	7: 6,443,015 (GRCm39)	T39S	probably benign	Het
Or4f15	T	A	2: 111,814,174 (GRCm39)	I82F	probably damaging	Het
Or4k1	T	A	14: 50,377,953 (GRCm39)	I48F	probably benign	Het
Pcdh12	T	A	18: 38,417,154 (GRCm39)		probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Ppan	T	A	9: 20,801,069 (GRCm39)	Y115*	probably null	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Ptpn20	A	G	14: 33,353,149 (GRCm39)	H296R	probably benign	Het
Rergl	A	G	6: 139,478,819 (GRCm39)		probably null	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,462,372 (GRCm39)	H409L	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Slc24a5	C	T	2: 124,927,781 (GRCm39)	T360I	probably benign	Het
Snx6	T	C	12: 54,830,807 (GRCm39)	H51R	probably damaging	Het
Sorl1	A	T	9: 41,942,198 (GRCm39)	V1009D	probably benign	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Tlk1	C	T	2: 70,582,549 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,882,967 (GRCm39)	Q1885*	probably null	Het
Vcl	T	C	14: 21,060,146 (GRCm39)	V595A	probably damaging	Het
Vmn1r84	A	T	7: 12,095,741 (GRCm39)	N305K	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het

Other mutations in Ears2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ears2	APN	7	121,638,985 (GRCm39)	nonsense	probably null
IGL00870:Ears2	APN	7	121,654,899 (GRCm39)	missense	probably damaging	1.00
IGL01434:Ears2	APN	7	121,662,311 (GRCm39)	splice site	probably benign
IGL01676:Ears2	APN	7	121,643,781 (GRCm39)	missense	probably benign
IGL02341:Ears2	APN	7	121,638,987 (GRCm39)	missense	probably benign
IGL02355:Ears2	APN	7	121,643,773 (GRCm39)	missense	probably benign	0.00
IGL02362:Ears2	APN	7	121,643,773 (GRCm39)	missense	probably benign	0.00
IGL02932:Ears2	APN	7	121,662,284 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Ears2	UTSW	7	121,647,562 (GRCm39)	missense	probably benign	0.04
R0555:Ears2	UTSW	7	121,647,667 (GRCm39)	missense	probably benign	0.22
R0582:Ears2	UTSW	7	121,654,881 (GRCm39)	missense	probably benign	0.05
R0588:Ears2	UTSW	7	121,643,514 (GRCm39)	splice site	probably benign
R0733:Ears2	UTSW	7	121,647,352 (GRCm39)	missense	possibly damaging	0.83
R1316:Ears2	UTSW	7	121,645,905 (GRCm39)	missense	probably benign	0.00
R1916:Ears2	UTSW	7	121,643,801 (GRCm39)	missense	probably benign	0.01
R2862:Ears2	UTSW	7	121,662,163 (GRCm39)	missense	probably damaging	1.00
R4634:Ears2	UTSW	7	121,643,832 (GRCm39)	missense	probably benign	0.00
R4686:Ears2	UTSW	7	121,647,427 (GRCm39)	missense	probably damaging	1.00
R5177:Ears2	UTSW	7	121,643,683 (GRCm39)	intron	probably benign
R5295:Ears2	UTSW	7	121,647,421 (GRCm39)	missense	probably damaging	1.00
R5385:Ears2	UTSW	7	121,643,600 (GRCm39)	missense	probably benign	0.36
R5386:Ears2	UTSW	7	121,643,600 (GRCm39)	missense	probably benign	0.36
R6510:Ears2	UTSW	7	121,662,217 (GRCm39)	missense	probably damaging	1.00
R6894:Ears2	UTSW	7	121,647,447 (GRCm39)	missense	probably damaging	1.00
R7828:Ears2	UTSW	7	121,647,563 (GRCm39)	missense	probably benign
R9350:Ears2	UTSW	7	121,643,786 (GRCm39)	nonsense	probably null
Z1176:Ears2	UTSW	7	121,654,933 (GRCm39)	missense	possibly damaging	0.81
Z1176:Ears2	UTSW	7	121,643,804 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCACGTGATAGGTGCAATGC -3'
(R):5'- CCCAGTTATCCTGAAAAGTGACG -3'

Sequencing Primer
(F):5'- ATAGGTGCAATGCTTTGACGAGC -3'
(R):5'- TGAAAAGTGACGGCTTTCCC -3'

Posted On

2016-07-22