Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02143:Rars2'

281692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rars2

Ensembl Gene

ENSMUSG00000028292

Gene Name

arginyl-tRNA synthetase 2, mitochondrial

Synonyms

1500002I10Rik, PRO1992, Rarsl

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

34614957-34660167 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34623404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029968] [ENSMUST00000148519]

AlphaFold

Q3U186

Predicted Effect

probably benign
Transcript: ENSMUST00000029968

SMART Domains

Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1d	110	449	1e-97	PFAM
DALR_1	463	578	3.64e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142045

Predicted Effect

probably benign
Transcript: ENSMUST00000148519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155133

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,194,278 (GRCm39)	M1T	probably null	Het
Ager	G	A	17: 34,818,092 (GRCm39)	G183E	probably damaging	Het
Alcam	C	A	16: 52,125,982 (GRCm39)	V112L	probably damaging	Het
Amot	T	A	X: 144,270,024 (GRCm39)	Q204H	probably damaging	Het
Ankar	C	T	1: 72,697,808 (GRCm39)		probably null	Het
Armc9	A	G	1: 86,104,587 (GRCm39)	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,051,849 (GRCm39)	T218I	probably benign	Het
Cacna1f	A	C	X: 7,480,234 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,395,474 (GRCm39)		probably null	Het
Ccdc57	A	T	11: 120,752,069 (GRCm39)	C837*	probably null	Het
Ctbp2	G	A	7: 132,592,885 (GRCm39)	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,268,889 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,328,754 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,620,450 (GRCm39)	F394S	probably damaging	Het
Dnah1	T	C	14: 31,005,246 (GRCm39)	N2336S	probably damaging	Het
Drap1	C	A	19: 5,473,871 (GRCm39)	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,847,888 (GRCm39)	R109C	probably benign	Het
Enpp1	A	T	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Evi5l	G	A	8: 4,241,293 (GRCm39)	M275I	probably damaging	Het
Flt1	T	C	5: 147,515,246 (GRCm39)	T1059A	probably benign	Het
Fndc3c1	T	C	X: 105,516,340 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,396,813 (GRCm39)	V645A	possibly damaging	Het
Gm7735	T	A	16: 88,966,437 (GRCm39)	C20*	probably null	Het
Ighv1-42	G	T	12: 114,900,906 (GRCm39)	P60T	probably benign	Het
Jakmip2	A	T	18: 43,696,350 (GRCm39)	L533Q	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lpin2	T	C	17: 71,550,921 (GRCm39)	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,454,562 (GRCm39)	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400 (GRCm39)	S174T	probably benign	Het
Neb	T	C	2: 52,181,211 (GRCm39)	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,387,383 (GRCm39)	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,948,996 (GRCm39)		probably null	Het
Obp1a	A	C	X: 77,134,449 (GRCm39)	M18R	possibly damaging	Het
Or13a19	A	T	7: 139,903,505 (GRCm39)	K298*	probably null	Het
Or2ag13	T	C	7: 106,473,180 (GRCm39)	T91A	probably benign	Het
Pabpc5	T	A	X: 118,837,688 (GRCm39)	M1K	probably null	Het
Paxip1	A	G	5: 27,980,596 (GRCm39)		probably benign	Het
Perm1	A	G	4: 156,302,500 (GRCm39)	E348G	probably benign	Het
Pfkfb1	T	C	X: 149,405,138 (GRCm39)	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,737,686 (GRCm39)	M461V	probably benign	Het
Ppfia2	G	A	10: 106,693,360 (GRCm39)	D622N	probably damaging	Het
Prtg	T	G	9: 72,799,606 (GRCm39)	S801R	probably damaging	Het
Rasal1	A	G	5: 120,790,917 (GRCm39)	D35G	probably damaging	Het
Repin1	T	A	6: 48,574,055 (GRCm39)	L272Q	probably damaging	Het
Spmip5	C	A	19: 58,777,684 (GRCm39)	R34L	possibly damaging	Het
Stk36	T	C	1: 74,655,728 (GRCm39)		probably benign	Het
Tbxa2r	A	G	10: 81,170,320 (GRCm39)	T269A	probably benign	Het
Tmem132c	G	A	5: 127,640,466 (GRCm39)	R879Q	probably benign	Het
Vmn1r78	C	A	7: 11,886,407 (GRCm39)	A6E	probably benign	Het
Vps45	A	T	3: 95,941,133 (GRCm39)	N369K	probably benign	Het
Vps45	T	C	3: 95,926,958 (GRCm39)	I530V	probably benign	Het
Zkscan16	G	A	4: 58,956,911 (GRCm39)	G398R	probably damaging	Het

Other mutations in Rars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Rars2	APN	4	34,657,219 (GRCm39)	missense	probably damaging	1.00
IGL02378:Rars2	APN	4	34,656,199 (GRCm39)	missense	possibly damaging	0.51
IGL03035:Rars2	APN	4	34,656,865 (GRCm39)	critical splice donor site	probably null
IGL03148:Rars2	APN	4	34,650,243 (GRCm39)	missense	possibly damaging	0.82
R0238:Rars2	UTSW	4	34,656,030 (GRCm39)	missense	probably benign	0.00
R0238:Rars2	UTSW	4	34,656,030 (GRCm39)	missense	probably benign	0.00
R0238:Rars2	UTSW	4	34,645,838 (GRCm39)	missense	probably damaging	1.00
R0238:Rars2	UTSW	4	34,645,838 (GRCm39)	missense	probably damaging	1.00
R0671:Rars2	UTSW	4	34,630,505 (GRCm39)	nonsense	probably null
R0967:Rars2	UTSW	4	34,646,587 (GRCm39)	missense	probably benign	0.01
R2276:Rars2	UTSW	4	34,656,835 (GRCm39)	missense	probably damaging	0.96
R3726:Rars2	UTSW	4	34,645,787 (GRCm39)	missense	probably benign
R4642:Rars2	UTSW	4	34,656,229 (GRCm39)	missense	probably damaging	1.00
R5144:Rars2	UTSW	4	34,656,793 (GRCm39)	missense	probably benign	0.00
R5714:Rars2	UTSW	4	34,645,779 (GRCm39)	missense	probably benign	0.00
R5919:Rars2	UTSW	4	34,657,232 (GRCm39)	missense	probably damaging	0.98
R5946:Rars2	UTSW	4	34,656,855 (GRCm39)	missense	possibly damaging	0.46
R7200:Rars2	UTSW	4	34,645,747 (GRCm39)	missense	probably benign	0.01
R8049:Rars2	UTSW	4	34,650,217 (GRCm39)	missense	probably benign	0.01
R8202:Rars2	UTSW	4	34,656,180 (GRCm39)	missense	probably damaging	1.00
R8558:Rars2	UTSW	4	34,657,199 (GRCm39)	missense	probably damaging	0.98
R8772:Rars2	UTSW	4	34,623,488 (GRCm39)	missense	probably benign	0.03
R9401:Rars2	UTSW	4	34,654,819 (GRCm39)	missense	probably damaging	1.00
R9553:Rars2	UTSW	4	34,637,014 (GRCm39)	missense	probably damaging	1.00
R9705:Rars2	UTSW	4	34,646,561 (GRCm39)	missense	possibly damaging	0.83
X0011:Rars2	UTSW	4	34,652,176 (GRCm39)	missense	probably benign

Posted On

2015-04-16