Mutagenetix > Incidental Mutation

Incidental Mutation 'R9350:Ears2'

708017

Institutional Source

Beutler Lab

Gene Symbol

Ears2

Ensembl Gene

ENSMUSG00000030871

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Synonyms

3230401I01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121636436-121666486 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 121643786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 391 (K391*)

Ref Sequence

ENSEMBL: ENSMUSP00000033159 (fasta)

Gene Model

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

AlphaFold

Q9CXJ1

Predicted Effect

probably null
Transcript: ENSMUST00000033159
AA Change: K391*

SMART Domains

Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871
AA Change: K391*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.7%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,022,669 (GRCm39)	M274L	probably benign	Het
Adarb1	T	A	10: 77,158,267 (GRCm39)	N60I	possibly damaging	Het
Adgrv1	T	A	13: 81,654,274 (GRCm39)	N2919I	probably damaging	Het
Adora3	C	T	3: 105,814,613 (GRCm39)	T121M	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,260 (GRCm39)	N423Y	probably damaging	Het
Arhgap19	A	T	19: 41,761,566 (GRCm39)	F466Y	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atxn7l1	C	T	12: 33,417,315 (GRCm39)	T492I	probably benign	Het
B3galnt2	T	C	13: 14,170,393 (GRCm39)	S248P	probably damaging	Het
Casp2	T	C	6: 42,246,332 (GRCm39)	V230A	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctnnbl1	G	A	2: 157,651,445 (GRCm39)	G240E	possibly damaging	Het
Dennd2c	T	C	3: 103,039,308 (GRCm39)	L152P	possibly damaging	Het
Dhx16	T	A	17: 36,200,203 (GRCm39)	F874Y	probably damaging	Het
Dnah14	A	T	1: 181,562,369 (GRCm39)	Y2643F	possibly damaging	Het
Dnah2	C	A	11: 69,384,073 (GRCm39)	V1048L	probably benign	Het
Dnah7a	T	C	1: 53,436,307 (GRCm39)	I4012V	probably benign	Het
Duox2	G	A	2: 122,115,729 (GRCm39)	R1002*	probably null	Het
Eif4e	T	C	3: 138,259,470 (GRCm39)	V176A	probably benign	Het
Erbb4	T	A	1: 68,329,638 (GRCm39)	I626L	probably benign	Het
Fam171a1	C	T	2: 3,226,037 (GRCm39)	T390I	probably benign	Het
Fam187b	A	G	7: 30,677,037 (GRCm39)	E182G	possibly damaging	Het
Fam204a	A	G	19: 60,209,685 (GRCm39)	V15A	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Fzd6	A	G	15: 38,895,043 (GRCm39)	D403G	probably damaging	Het
Gars1	G	A	6: 55,029,249 (GRCm39)	A210T	probably null	Het
Gmcl1	A	T	6: 86,677,569 (GRCm39)	I428N	probably damaging	Het
Gmip	T	A	8: 70,263,832 (GRCm39)	I92N	probably damaging	Het
Il17rc	G	A	6: 113,456,048 (GRCm39)	V298I	probably damaging	Het
Kifap3	A	G	1: 163,610,630 (GRCm39)	I37V	probably benign	Het
Marf1	T	C	16: 13,963,789 (GRCm39)	K505E	probably damaging	Het
Masp2	A	T	4: 148,692,396 (GRCm39)		probably null	Het
Mmp15	G	A	8: 96,093,002 (GRCm39)	R127H	probably damaging	Het
Nrdc	A	G	4: 108,889,658 (GRCm39)	T402A	possibly damaging	Het
Or10d1c	A	T	9: 38,894,081 (GRCm39)	N86K	probably benign	Het
Or4k6	T	A	14: 50,475,407 (GRCm39)	I312L	probably benign	Het
Papln	A	T	12: 83,833,638 (GRCm39)	I1185F	probably damaging	Het
Pcdhgb1	A	G	18: 37,814,705 (GRCm39)	N399D	probably benign	Het
Pcdhgb6	T	A	18: 37,876,872 (GRCm39)	S527T	probably benign	Het
Phkb	T	A	8: 86,743,493 (GRCm39)	Y530*	probably null	Het
Pira2	A	G	7: 3,844,030 (GRCm39)	S581P	probably benign	Het
Pou4f3	A	T	18: 42,528,329 (GRCm39)	T91S	probably benign	Het
Prpf38a	A	G	4: 108,424,112 (GRCm39)	S296P	unknown	Het
Rnf213	T	C	11: 119,332,975 (GRCm39)	V2729A		Het
Rtl1	G	A	12: 109,557,226 (GRCm39)	Q1538*	probably null	Het
Sars2	T	C	7: 28,447,273 (GRCm39)	S224P	probably damaging	Het
Senp8	A	G	9: 59,645,105 (GRCm39)	V17A	probably benign	Het
Serpinb13	T	A	1: 106,923,562 (GRCm39)	L89*	probably null	Het
Sh3bp2	T	A	5: 34,718,453 (GRCm39)		probably null	Het
Shank2	A	G	7: 143,960,945 (GRCm39)	T254A	probably benign	Het
Smdt1	A	T	15: 82,231,504 (GRCm39)	E12D	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar2	A	G	10: 23,817,345 (GRCm39)	N295S	probably damaging	Het
Trim24	A	G	6: 37,892,208 (GRCm39)	Q247R	probably damaging	Het
Trpc4	T	A	3: 54,209,610 (GRCm39)	N658K	probably damaging	Het
Ube2e1	T	C	14: 18,284,348 (GRCm38)	D137G	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Vmn1r235	A	G	17: 21,482,190 (GRCm39)	T172A	probably benign	Het
Vps13d	A	G	4: 144,882,333 (GRCm39)	F1087L		Het
Xirp2	T	C	2: 67,349,653 (GRCm39)	S3283P	probably damaging	Het
Zeb2	C	A	2: 44,887,158 (GRCm39)	S633I	possibly 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
R5275:Ears2	UTSW	7	121,647,421 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCTGATCGATGGACAGCAG -3'
(R):5'- TCAAATCTCCACACTGCTCTGAG -3'

Sequencing Primer
(F):5'- CGGGTCCATAAGTAGGAGTACACTG -3'
(R):5'- CTCTGAGAGGAGAGGTTTGGCATAG -3'

Posted On

2022-04-18