Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Ears2'

555321

Institutional Source

Beutler Lab

Gene Symbol

Ears2

Ensembl Gene

ENSMUSG00000030871

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Synonyms

3230401I01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

152.008

Status

Not validated

Chromosome

Chromosomal Location

122037213-122067263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122048339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 241 (I241V)

Ref Sequence

ENSEMBL: ENSMUSP00000033159 (fasta)

Gene Model

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

AlphaFold

Q9CXJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000033159
AA Change: I241V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871
AA Change: I241V

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: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	Het

Other mutations in Ears2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ears2	APN	7	122039762	nonsense	probably null
IGL00870:Ears2	APN	7	122055676	missense	probably damaging	1.00
IGL01434:Ears2	APN	7	122063088	splice site	probably benign
IGL01676:Ears2	APN	7	122044558	missense	probably benign
IGL02341:Ears2	APN	7	122039764	missense	probably benign
IGL02355:Ears2	APN	7	122044550	missense	probably benign	0.00
IGL02362:Ears2	APN	7	122044550	missense	probably benign	0.00
IGL02932:Ears2	APN	7	122063061	missense	probably damaging	1.00
R0555:Ears2	UTSW	7	122048444	missense	probably benign	0.22
R0582:Ears2	UTSW	7	122055658	missense	probably benign	0.05
R0588:Ears2	UTSW	7	122044291	splice site	probably benign
R0733:Ears2	UTSW	7	122048129	missense	possibly damaging	0.83
R1316:Ears2	UTSW	7	122046682	missense	probably benign	0.00
R1916:Ears2	UTSW	7	122044578	missense	probably benign	0.01
R2862:Ears2	UTSW	7	122062940	missense	probably damaging	1.00
R4634:Ears2	UTSW	7	122044609	missense	probably benign	0.00
R4686:Ears2	UTSW	7	122048204	missense	probably damaging	1.00
R5177:Ears2	UTSW	7	122044460	intron	probably benign
R5275:Ears2	UTSW	7	122048198	missense	probably damaging	1.00
R5295:Ears2	UTSW	7	122048198	missense	probably damaging	1.00
R5385:Ears2	UTSW	7	122044377	missense	probably benign	0.36
R5386:Ears2	UTSW	7	122044377	missense	probably benign	0.36
R6510:Ears2	UTSW	7	122062994	missense	probably damaging	1.00
R6894:Ears2	UTSW	7	122048224	missense	probably damaging	1.00
R7828:Ears2	UTSW	7	122048340	missense	probably benign
R9350:Ears2	UTSW	7	122044563	nonsense	probably null
Z1176:Ears2	UTSW	7	122044581	missense	probably damaging	0.98
Z1176:Ears2	UTSW	7	122055710	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACAGTTGGTGATGATGTCAAGC -3'
(R):5'- TAGACCCCAAGCCTGCTATC -3'

Sequencing Primer
(F):5'- ATGTCAAGCAAGGCTTCTGGC -3'
(R):5'- TATCCGCTTCCGTCTAGAGGAG -3'

Posted On

2019-06-07