Mutagenetix > Incidental Mutation

Incidental Mutation 'R5919:Rars2'

462552

Institutional Source

Beutler Lab

Gene Symbol

Rars2

Ensembl Gene

ENSMUSG00000028292

Gene Name

arginyl-tRNA synthetase 2, mitochondrial

Synonyms

1500002I10Rik, PRO1992, Rarsl

MMRRC Submission

044116-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34614957-34660167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34657232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 526 (L526P)

Ref Sequence

ENSEMBL: ENSMUSP00000029968 (fasta)

Gene Model

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

AlphaFold

Q3U186

Predicted Effect

probably damaging
Transcript: ENSMUST00000029968
AA Change: L526P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: L526P

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: ENSMUST00000141519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142045

Meta Mutation Damage Score

0.3936

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (68/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	C	1: 151,791,249 (GRCm39)	D104G	probably damaging	Het
6030458C11Rik	A	T	15: 12,823,754 (GRCm39)	H40Q	probably damaging	Het
Abcc3	A	G	11: 94,248,132 (GRCm39)	V1156A	possibly damaging	Het
Adgrl1	G	T	8: 84,659,239 (GRCm39)	D648Y	probably damaging	Het
Adgrl3	C	A	5: 81,794,417 (GRCm39)	D547E	probably benign	Het
Aebp1	A	T	11: 5,821,421 (GRCm39)	M607L	probably benign	Het
Angptl1	T	C	1: 156,686,116 (GRCm39)	Y401H	probably damaging	Het
Arl4d	A	G	11: 101,557,962 (GRCm39)	T163A	probably benign	Het
Bltp2	A	T	11: 78,180,176 (GRCm39)	N2152I	probably damaging	Het
Camk2b	A	G	11: 5,929,718 (GRCm39)	S331P	probably damaging	Het
Ccdc15	C	T	9: 37,231,692 (GRCm39)		probably null	Het
Ccdc168	T	C	1: 44,096,146 (GRCm39)	N1651D	probably benign	Het
Ccdc38	A	T	10: 93,414,700 (GRCm39)	I370F	possibly damaging	Het
Clstn1	A	T	4: 149,719,703 (GRCm39)	H416L	probably damaging	Het
Col12a1	C	T	9: 79,509,580 (GRCm39)	R3030H	probably damaging	Het
Cop1	T	A	1: 159,147,294 (GRCm39)	V540E	probably damaging	Het
Crebbp	C	T	16: 3,925,991 (GRCm39)	R710H	probably damaging	Het
Dsel	T	C	1: 111,787,983 (GRCm39)	I851V	probably benign	Het
Esrp1	A	G	4: 11,344,146 (GRCm39)	V642A	probably damaging	Het
Fanci	T	C	7: 79,094,486 (GRCm39)	L1139P	probably damaging	Het
Fat1	T	C	8: 45,479,910 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,822,953 (GRCm39)	N6229D	possibly damaging	Het
Garin5b	T	C	7: 4,773,385 (GRCm39)	E144G	possibly damaging	Het
Gas2l3	G	A	10: 89,252,917 (GRCm39)	R243W	probably damaging	Het
Hectd1	G	A	12: 51,815,855 (GRCm39)	R1406W	probably damaging	Het
Hecw2	T	C	1: 53,976,249 (GRCm39)	H180R	probably damaging	Het
Ift172	T	A	5: 31,418,006 (GRCm39)	Q1261L	possibly damaging	Het
Il17rd	T	C	14: 26,818,001 (GRCm39)	V230A	probably damaging	Het
Kif17	A	T	4: 137,997,202 (GRCm39)	I42F	probably damaging	Het
Kif24	T	C	4: 41,394,477 (GRCm39)	K799E	possibly damaging	Het
Lrp4	A	T	2: 91,303,552 (GRCm39)	I84F	probably damaging	Het
Mplkipl1	T	C	19: 61,163,907 (GRCm39)	Y176C	probably damaging	Het
Mroh7	T	C	4: 106,551,509 (GRCm39)		probably null	Het
Ms4a14	C	A	19: 11,291,661 (GRCm39)	V13F	possibly damaging	Het
Muc2	T	A	7: 141,281,171 (GRCm39)	V445D	probably damaging	Het
Muc6	A	T	7: 141,227,837 (GRCm39)	M1317K	possibly damaging	Het
Myof	T	A	19: 38,012,818 (GRCm39)	D39V	possibly damaging	Het
Ndufaf1	A	C	2: 119,490,709 (GRCm39)	V117G	possibly damaging	Het
Ndufs1	C	G	1: 63,182,991 (GRCm39)	*728S	probably null	Het
Nup188	A	T	2: 30,229,906 (GRCm39)	N1375Y	probably damaging	Het
Oasl1	T	A	5: 115,066,329 (GRCm39)	I149N	probably damaging	Het
Or9i16	A	G	19: 13,865,209 (GRCm39)	Y122H	probably damaging	Het
Pelo	C	A	13: 115,225,845 (GRCm39)	C204F	possibly damaging	Het
Phf11d	A	C	14: 59,593,712 (GRCm39)		probably benign	Het
Rrp1	A	G	10: 78,241,422 (GRCm39)	L177P	probably damaging	Het
S100a9	A	G	3: 90,602,495 (GRCm39)	L33P	probably damaging	Het
Slc4a7	A	G	14: 14,791,092 (GRCm38)	D1045G	probably benign	Het
Slc9a3	C	T	13: 74,306,859 (GRCm39)	T328I	probably damaging	Het
Spata6	A	G	4: 111,636,405 (GRCm39)	D232G	probably damaging	Het
Taar6	A	T	10: 23,861,168 (GRCm39)	I126N	probably damaging	Het
Tmeff2	C	A	1: 51,171,311 (GRCm39)	C182*	probably null	Het
Tmem178	T	A	17: 81,297,187 (GRCm39)	C190S	probably damaging	Het
Trerf1	T	G	17: 47,634,208 (GRCm39)		noncoding transcript	Het
Trgv6	A	G	13: 19,374,782 (GRCm39)	Y16C	probably benign	Het
Ubn2	A	G	6: 38,468,423 (GRCm39)	I1046V	possibly damaging	Het
Vmn1r221	A	T	13: 23,401,466 (GRCm39)		noncoding transcript	Het
Vmn2r2	T	C	3: 64,044,723 (GRCm39)	N141S	probably benign	Het
Zfp64	T	A	2: 168,768,419 (GRCm39)	N398Y	probably benign	Het
Zfp787	T	G	7: 6,135,834 (GRCm39)	Q139P	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
IGL02143:Rars2	APN	4	34,623,404 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGTCAAGGCTAATCCTAGTCAG -3'
(R):5'- TGAACTAACATGCATGCCTGTG -3'

Sequencing Primer
(F):5'- CATATTATCACAAAGTGTATTGCCAC -3'
(R):5'- TGCCTGTGCACAAGCGTG -3'

Posted On

2017-02-28