Mutagenetix > Incidental Mutation

Incidental Mutation 'R9351:Lars2'

708077

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 #

R9351 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123366927-123462666 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123436301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 474 (Q474R)

Ref Sequence

ENSEMBL: ENSMUSP00000036710 (fasta)

Gene Model

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

AlphaFold

Q8VDC0

Predicted Effect

probably benign
Transcript: ENSMUST00000038863
AA Change: Q474R

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036710
Gene: ENSMUSG00000035202
AA Change: Q474R

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

silent
Transcript: ENSMUST00000217116

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,206	T84A	probably benign	Het
A930017K11Rik	G	A	17: 25,947,144	Q390*	probably null	Het
Abca17	G	A	17: 24,291,777	S909L	probably benign	Het
Adamtsl3	A	T	7: 82,520,721	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,418,364	S394R	probably damaging	Het
Ahcyl1	T	C	3: 107,667,695	N444S	probably damaging	Het
Ahnak	A	C	19: 9,007,868	D2172A	probably damaging	Het
Arhgef28	C	T	13: 97,994,068	D421N	probably benign	Het
Brd1	T	A	15: 88,730,104	E196V	possibly damaging	Het
Cabs1	A	G	5: 87,980,441	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,484,725	I25T	unknown	Het
Clgn	A	G	8: 83,426,589	R607G	possibly damaging	Het
Clp1	T	C	2: 84,723,851	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,921,036	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911	T16I	probably damaging	Het
Epb41l5	A	G	1: 119,549,909	F711L	probably benign	Het
Esr1	G	A	10: 4,746,763	W204*	probably null	Het
Fat2	A	G	11: 55,281,301	L2862P	probably damaging	Het
Frmd3	A	G	4: 74,135,831	E159G	probably damaging	Het
Gm8994	A	T	6: 136,329,773	I411F	probably benign	Het
Gsto2	T	A	19: 47,886,169	C243S	possibly damaging	Het
Heg1	A	G	16: 33,725,497	H206R	probably benign	Het
Ifi203	A	G	1: 173,922,567	V862A	probably benign	Het
Ippk	C	T	13: 49,461,631	H497Y	probably benign	Het
Irf5	A	T	6: 29,531,318	N61I	possibly damaging	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Kcnj12	C	T	11: 61,069,847	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,343,113	D405N		Het
Lctl	T	C	9: 64,133,191	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,351,193	S590P	probably benign	Het
Mcf2l	G	T	8: 13,000,757	L337F	possibly damaging	Het
Mvp	A	G	7: 126,996,263	V225A	probably damaging	Het
Nfat5	T	A	8: 107,339,278	D241E	probably damaging	Het
Olfr430	T	A	1: 174,069,455	D52E	probably benign	Het
Pagr1a	A	T	7: 127,016,901	H7Q	probably damaging	Het
Parp8	G	T	13: 116,864,245	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,296,316	N90K	probably damaging	Het
Pde6h	A	G	6: 136,959,334	K25R	probably benign	Het
Psd3	C	A	8: 67,960,649	A410S	probably benign	Het
Pus10	A	G	11: 23,667,311	N8S	probably benign	Het
Rnf115	T	C	3: 96,788,678	L260S	probably damaging	Het
Sdsl	A	T	5: 120,463,094	Y38N	probably benign	Het
Sf1	A	G	19: 6,365,664	D11G	probably damaging	Het
Stxbp5l	A	G	16: 37,115,685	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,941,002	V147I	probably benign	Het
Tmed3	A	T	9: 89,702,927	F92I	possibly damaging	Het
Tmprss15	T	C	16: 79,035,198	T357A	probably damaging	Het
Trbv14	A	T	6: 41,135,494	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,359,508	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,039,374	M266L	probably benign	Het
Wdr17	T	C	8: 54,690,022	I198V	probably benign	Het
Wdr27	G	A	17: 14,908,571	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,438,151	Y372*	probably null	Het
Zfp286	A	G	11: 62,779,975	V424A	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
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
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
Z1177:Lars2	UTSW	9	123454782	missense	probably damaging	1.00

Predicted Primers

Posted On

2022-04-18