Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Lars2'

550361

Institutional Source

Beutler Lab

Gene Symbol

Lars2

Ensembl Gene

ENSMUSG00000035202

Gene Name

leucyl-tRNA synthetase, mitochondrial

Synonyms

Kiaa0028

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123366927-123462666 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123459585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 832 (L832P)

Ref Sequence

ENSEMBL: ENSMUSP00000036710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038863] [ENSMUST00000217116]

AlphaFold

Q8VDC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038863
AA Change: L832P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: L832P

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	57	223	7.6e-24	PFAM
Pfam:tRNA-synt_1g	83	239	9.3e-20	PFAM
Pfam:tRNA-synt_1_2	269	430	1.1e-8	PFAM
Pfam:tRNA-synt_1	434	609	5.6e-8	PFAM
Pfam:tRNA-synt_1g	589	682	1.2e-6	PFAM
Pfam:tRNA-synt_1	633	678	1.6e-7	PFAM
Pfam:Anticodon_1	724	867	9.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217116

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,298,610	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,706,338		probably benign	Het
Actn2	A	G	13: 12,309,657	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,646,439	A613E	probably damaging	Het
Atf6b	G	A	17: 34,653,816		probably null	Het
BC048403	A	G	10: 121,740,193	Y73C	possibly damaging	Het
Bub1	T	A	2: 127,821,761	E240V	probably null	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C530008M17Rik	C	T	5: 76,859,032	P1080L	unknown	Het
Ccdc141	C	A	2: 77,041,453	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,274,618		probably null	Het
Cd209g	T	C	8: 4,136,790	F112L	possibly damaging	Het
Cebpe	C	T	14: 54,710,603	R261H	probably damaging	Het
Cfap100	T	C	6: 90,413,454	E68G		Het
Chd9	A	G	8: 90,989,561	N921S	unknown	Het
Chil6	T	C	3: 106,404,170	N98S	probably damaging	Het
Clip1	T	C	5: 123,623,270	K734E	probably benign	Het
Cyp11b2	A	G	15: 74,853,658	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,336	T4418A	probably damaging	Het
Dysf	T	C	6: 84,100,202	V649A	probably benign	Het
Ergic3	G	A	2: 156,016,763	V270M	possibly damaging	Het
Eva1a	C	T	6: 82,092,043	T117I	probably damaging	Het
Fat4	G	A	3: 38,889,874	G972D	probably damaging	Het
Gm14412	A	T	2: 177,317,345	N39K	probably damaging	Het
Gm5565	T	C	5: 146,158,274	T221A	probably benign	Het
Gnptab	T	G	10: 88,379,504	V29G	possibly damaging	Het
Grem2	T	C	1: 174,836,989	Y98C	probably damaging	Het
Grik2	A	T	10: 49,355,916	I506N	possibly damaging	Het
Has2	T	A	15: 56,681,621	Y195F	probably damaging	Het
Lipo5	T	A	19: 33,468,849	E49D	probably damaging	Het
Macc1	T	A	12: 119,450,391	Y767*	probably null	Het
Map2	G	T	1: 66,412,727	E259*	probably null	Het
Mcm9	T	C	10: 53,620,157	D310G	probably damaging	Het
Mink1	C	A	11: 70,610,075		probably null	Het
Mtrr	T	C	13: 68,579,684	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,253,741	I68N	possibly damaging	Het
Olfr1083-ps	T	C	2: 86,607,328	N81S	unknown	Het
Olfr1243	A	T	2: 89,527,558	I284K	probably damaging	Het
Olfr374	A	T	8: 72,109,503		probably benign	Het
Olfr484	G	T	7: 108,124,633	T210N	probably benign	Het
Olfr560	A	G	7: 102,753,098	M277T	probably benign	Het
Pcdh17	A	G	14: 84,447,395	D434G	probably damaging	Het
Rnf213	T	A	11: 119,437,604		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sez6l2	A	G	7: 126,952,924	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,913,118	S24G	probably benign	Het
Slc39a2	G	T	14: 51,893,689		probably benign	Het
Slitrk5	C	T	14: 111,680,836	P631S	probably benign	Het
Taf2	A	G	15: 55,060,086	V265A	probably benign	Het
Tas2r106	T	C	6: 131,678,579	N103S	probably benign	Het
Tgm1	T	C	14: 55,704,843	T684A	possibly damaging	Het
Tgm7	C	T	2: 121,099,008	G262S	probably damaging	Het
Tpp2	T	A	1: 43,968,988	S451T	probably damaging	Het
Trim15	T	C	17: 36,862,896	Y240C	probably benign	Het
Trio	A	T	15: 27,891,448	C465S	unknown	Het
Ttc22	G	A	4: 106,635,907	W250*	probably null	Het
Upb1	C	A	10: 75,438,208	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,379,311	M419K	probably benign	Het
Vstm2a	G	A	11: 16,257,990		probably benign	Het
Zfp820	T	C	17: 21,819,265	T361A	probably benign	Het

Other mutations in Lars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Lars2	APN	9	123453248	missense	probably damaging	0.98
IGL01993:Lars2	APN	9	123394943	splice site	probably benign
IGL02155:Lars2	APN	9	123454982	missense	probably damaging	0.99
IGL02941:Lars2	APN	9	123459585	missense	probably damaging	0.97
IGL03090:Lars2	APN	9	123455960	missense	probably damaging	1.00
IGL03271:Lars2	APN	9	123459484	splice site	probably null
IGL03386:Lars2	APN	9	123453390	nonsense	probably null
IGL03410:Lars2	APN	9	123418776	missense	possibly damaging	0.87
ulrich	UTSW	9	123418693	missense	probably damaging	0.99
K3955:Lars2	UTSW	9	123377777	missense	probably damaging	1.00
P0038:Lars2	UTSW	9	123377777	missense	probably damaging	1.00
R0276:Lars2	UTSW	9	123438121	splice site	probably benign
R1671:Lars2	UTSW	9	123418279	missense	probably benign	0.02
R1829:Lars2	UTSW	9	123431917	missense	probably benign	0.00
R2219:Lars2	UTSW	9	123418780	missense	probably damaging	0.98
R2220:Lars2	UTSW	9	123418780	missense	probably damaging	0.98
R4610:Lars2	UTSW	9	123418693	missense	probably damaging	0.99
R5027:Lars2	UTSW	9	123441495	missense	probably benign	0.38
R5195:Lars2	UTSW	9	123453310	missense	probably damaging	0.97
R5597:Lars2	UTSW	9	123454982	missense	probably damaging	0.99
R5756:Lars2	UTSW	9	123438199	missense	probably damaging	1.00
R5783:Lars2	UTSW	9	123461596	missense	probably benign
R6045:Lars2	UTSW	9	123371988	missense	probably damaging	1.00
R6235:Lars2	UTSW	9	123411880	missense	probably damaging	1.00
R6323:Lars2	UTSW	9	123441594	nonsense	probably null
R6377:Lars2	UTSW	9	123454760	missense	probably benign	0.00
R6395:Lars2	UTSW	9	123371925	missense	probably benign	0.06
R7144:Lars2	UTSW	9	123431993	missense	probably damaging	1.00
R7233:Lars2	UTSW	9	123411954	nonsense	probably null
R7254:Lars2	UTSW	9	123454963	missense	possibly damaging	0.93
R7350:Lars2	UTSW	9	123427480	missense	probably damaging	1.00
R7413:Lars2	UTSW	9	123459503	missense	probably benign	0.30
R7614:Lars2	UTSW	9	123395111	missense
R7683:Lars2	UTSW	9	123377830	critical splice donor site	probably null
R8000:Lars2	UTSW	9	123436244	missense	probably damaging	1.00
R8061:Lars2	UTSW	9	123459497	missense	probably benign
R8355:Lars2	UTSW	9	123454715	missense	probably damaging	1.00
R8364:Lars2	UTSW	9	123411954	nonsense	probably null
R8818:Lars2	UTSW	9	123392827	missense	possibly damaging	0.94
R9007:Lars2	UTSW	9	123431915	nonsense	probably null
R9351:Lars2	UTSW	9	123436301	missense	probably benign	0.38
Z1177:Lars2	UTSW	9	123454782	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCATTCATGGCGTCCCTC -3'
(R):5'- TCTGGAATACACTGAAGGCAC -3'

Sequencing Primer
(F):5'- GTCCCTCACCTCCTCAAAAGG -3'
(R):5'- CACAGAGAAGGGAACATAGACCTCTG -3'

Posted On

2019-05-15