Mutagenetix > Incidental Mutation

Incidental Mutation 'R2219:Lars2'

241342

Institutional Source

Beutler Lab

Gene Symbol

Lars2

Ensembl Gene

ENSMUSG00000035202

Gene Name

leucyl-tRNA synthetase, mitochondrial

Synonyms

Kiaa0028

MMRRC Submission

040221-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2219 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123366927-123462666 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123418780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 334 (L334P)

Ref Sequence

ENSEMBL: ENSMUSP00000150083 (fasta)

Gene Model

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

AlphaFold

Q8VDC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038863
AA Change: L334P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: L334P

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

noncoding transcript
Transcript: ENSMUST00000214557

Predicted Effect

probably damaging
Transcript: ENSMUST00000217116
AA Change: L334P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	G	7: 42,446,345	Y160H	probably damaging	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adgre1	T	A	17: 57,401,912	N34K	possibly damaging	Het
Ago2	T	A	15: 73,146,411	E59D	probably benign	Het
Akap8l	G	T	17: 32,334,631	Q372K	probably benign	Het
Aox2	A	G	1: 58,349,130		probably null	Het
Apc2	T	C	10: 80,309,109	V618A	probably benign	Het
Cacna1d	A	T	14: 30,042,090	C2140S	probably damaging	Het
Cadps2	A	G	6: 23,410,832	L671P	probably damaging	Het
Capn9	C	T	8: 124,609,159	R529*	probably null	Het
Ccdc180	T	A	4: 45,944,949	N1452K	probably damaging	Het
Cdh5	A	T	8: 104,142,906	I755F	possibly damaging	Het
Cdkal1	T	A	13: 29,354,758	M473L	probably benign	Het
Cfap65	T	C	1: 74,904,025	I1614V	probably damaging	Het
Champ1	A	G	8: 13,880,017	H725R	probably damaging	Het
Cntnap5a	A	T	1: 116,580,639	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,606,619	N94T	probably benign	Het
Cpne7	G	T	8: 123,124,438	V155L	probably benign	Het
Dhx29	T	C	13: 112,952,804	V703A	probably damaging	Het
Dhx30	A	G	9: 110,087,635	L575P	probably damaging	Het
Dmc1	T	A	15: 79,585,126	H156L	possibly damaging	Het
Dnmt3a	A	G	12: 3,849,654		probably benign	Het
Dst	C	G	1: 34,170,433	L869V	probably damaging	Het
Eif3d	A	T	15: 77,964,942	M180K	probably benign	Het
Erbb3	T	C	10: 128,569,871	T1173A	probably damaging	Het
Fat4	A	T	3: 39,010,215	K4773N	probably damaging	Het
Fbn2	G	A	18: 58,052,963	P1771L	possibly damaging	Het
Fer1l4	T	G	2: 156,031,764	Y1207S	probably damaging	Het
Fermt2	G	A	14: 45,475,897	T87I	probably benign	Het
Fpr3	T	A	17: 17,971,382	M305K	possibly damaging	Het
Fzd2	A	G	11: 102,605,423	E231G	probably benign	Het
Ggcx	T	C	6: 72,427,982	Y458H	probably benign	Het
Ggt7	A	G	2: 155,495,719	S504P	probably damaging	Het
Gm14548	A	T	7: 3,897,489	N87K	probably benign	Het
Gm4884	A	G	7: 41,043,486	H293R	possibly damaging	Het
Gm5475	A	G	15: 100,424,213		probably benign	Het
Gm5930	A	T	14: 44,336,536	L115M	probably damaging	Het
Itln1	T	A	1: 171,531,547	T122S	probably damaging	Het
Itpr3	T	A	17: 27,115,053	L2033Q	probably benign	Het
Lama2	T	C	10: 27,043,569	D2222G	probably damaging	Het
Ly9	T	C	1: 171,597,681		probably null	Het
Man1a	T	C	10: 53,977,049	I324M	probably damaging	Het
Mast3	T	C	8: 70,780,963	E994G	probably damaging	Het
Mettl21a	A	T	1: 64,616,283	V46E	probably damaging	Het
Mmp15	A	G	8: 95,370,173	D398G	probably benign	Het
Mybpc1	T	A	10: 88,555,678	D319V	probably damaging	Het
Olfr1154	A	C	2: 87,902,925	Y250*	probably null	Het
Olfr1251	A	T	2: 89,667,867	N6K	possibly damaging	Het
Olfr1256	A	T	2: 89,835,425	D173E	probably damaging	Het
Olfr1260	G	A	2: 89,977,912	V45I	possibly damaging	Het
Olfr1314	A	T	2: 112,092,407	I98N	probably damaging	Het
Olfr1467	T	A	19: 13,365,537	I303N	possibly damaging	Het
Olfr288	T	A	15: 98,186,967	K277*	probably null	Het
Olfr467	G	A	7: 107,815,222	V213I	probably benign	Het
Otogl	C	T	10: 107,856,977	C882Y	probably damaging	Het
Parp10	A	G	15: 76,233,583	Y868H	probably damaging	Het
Pick1	T	A	15: 79,239,699	I90N	probably damaging	Het
Piezo1	C	T	8: 122,491,488	V1170I	probably benign	Het
Pim3	G	A	15: 88,862,912	V54I	possibly damaging	Het
Pinlyp	T	C	7: 24,546,008		probably benign	Het
Ppfia3	G	A	7: 45,354,890	Q473*	probably null	Het
Rab3gap2	G	A	1: 185,275,916	G1056E	probably damaging	Het
Ralgapa2	G	A	2: 146,421,679	T706I	probably benign	Het
Reln	T	C	5: 21,972,047	T1874A	possibly damaging	Het
Rftn1	C	A	17: 50,169,145	M1I	probably null	Het
Ros1	T	A	10: 52,166,079	Q250L	probably damaging	Het
Slc11a1	T	A	1: 74,380,665	F166I	probably damaging	Het
Slc17a9	A	G	2: 180,731,962	T59A	probably benign	Het
Slc26a5	T	C	5: 21,823,478	K364R	probably damaging	Het
Slitrk2	T	C	X: 66,655,148	I415T	probably damaging	Het
Stom	A	G	2: 35,321,601	I136T	possibly damaging	Het
Strc	G	T	2: 121,364,523	P1728T	probably damaging	Het
Telo2	C	A	17: 25,103,699	V640F	probably benign	Het
Tg	T	C	15: 66,681,933	V399A	probably benign	Het
Tmem214	A	G	5: 30,873,631	K383E	possibly damaging	Het
Tomm40l	A	T	1: 171,221,981	L13*	probably null	Het
Tonsl	A	T	15: 76,634,640	N526K	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tymp	T	A	15: 89,374,762	M240L	probably benign	Het
Ubr2	A	T	17: 46,986,042	S271T	possibly damaging	Het
Uggt2	A	T	14: 119,075,337	N353K	probably damaging	Het
Ugt2b35	T	A	5: 87,003,332	F266I	possibly damaging	Het
Vmn2r103	C	T	17: 19,793,647	R234W	probably damaging	Het
Zfp109	C	A	7: 24,228,461	D508Y	probably damaging	Het
Zfp623	T	C	15: 75,947,530	S112P	possibly damaging	Het
Zfp735	A	G	11: 73,711,025	N265S	possibly damaging	Het
Zfp879	A	G	11: 50,833,267	C321R	probably damaging	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
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
R7094:Lars2	UTSW	9	123459585	missense	probably damaging	0.99
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'- AAGCTGCCAAGGCTGTTTG -3'
(R):5'- GCCAATCTAATGTTCCCAGAGC -3'

Sequencing Primer
(F):5'- AGCCCCAGAACTTAGGGG -3'
(R):5'- CAGAGCTGTCTTACCTCAGG -3'

Posted On

2014-10-15