Mutagenetix > Incidental Mutation

Incidental Mutation 'R9553:Rars2'

720596

Institutional Source

Beutler Lab

Gene Symbol

Rars2

Ensembl Gene

ENSMUSG00000028292

Gene Name

arginyl-tRNA synthetase 2, mitochondrial

Synonyms

1500002I10Rik, PRO1992, Rarsl

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34614957-34660167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34637014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 172 (G172R)

Ref Sequence

ENSEMBL: ENSMUSP00000029968 (fasta)

Gene Model

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

AlphaFold

Q3U186

Predicted Effect

probably damaging
Transcript: ENSMUST00000029968
AA Change: G172R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: G172R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	C	T	7: 43,900,334 (GRCm39)	R80W	probably damaging	Het
Ankdd1b	G	T	13: 96,591,294 (GRCm39)	N68K	possibly damaging	Het
Arhgef1	A	G	7: 24,619,115 (GRCm39)	E452G	probably damaging	Het
Cbx8	T	G	11: 118,930,964 (GRCm39)	E45D	probably damaging	Het
Ceacam15	T	C	7: 16,407,316 (GRCm39)	Y67C	probably damaging	Het
Ceacam20	A	G	7: 19,723,926 (GRCm39)	Y570C	probably damaging	Het
Cnga4	A	G	7: 105,054,977 (GRCm39)	Y187C	probably damaging	Het
Cntrob	T	C	11: 69,205,679 (GRCm39)	N385S	probably benign	Het
Coro7	A	G	16: 4,486,624 (GRCm39)	V183A	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dnah7b	A	G	1: 46,264,956 (GRCm39)	Y2150C	probably damaging	Het
E2f8	A	G	7: 48,528,394 (GRCm39)	S25P	probably damaging	Het
Eif1ad7	A	G	12: 88,238,476 (GRCm39)	Y95H	probably damaging	Het
Eif3d	T	C	15: 77,843,837 (GRCm39)	E503G	probably damaging	Het
Elp6	T	A	9: 110,144,965 (GRCm39)	V157D	probably damaging	Het
Entpd3	T	C	9: 120,387,546 (GRCm39)	Y248H	probably damaging	Het
Fam186a	T	C	15: 99,844,561 (GRCm39)	E561G	unknown	Het
Fbxl13	C	T	5: 21,728,151 (GRCm39)	G519S	probably damaging	Het
Fgfr4	T	G	13: 55,309,228 (GRCm39)	S422A	probably damaging	Het
Flg2	G	A	3: 93,121,901 (GRCm39)	C1357Y	unknown	Het
Fpr3	T	A	17: 18,191,612 (GRCm39)	N294K	probably damaging	Het
Gas6	T	C	8: 13,525,048 (GRCm39)	Q312R	possibly damaging	Het
Glg1	C	T	8: 111,926,770 (GRCm39)	E182K	probably benign	Het
Gucy1b1	T	C	3: 81,947,087 (GRCm39)	D374G	probably damaging	Het
Ifrd2	C	T	9: 107,468,285 (GRCm39)	T251I	possibly damaging	Het
Igkv4-91	C	T	6: 68,745,632 (GRCm39)	G89R	possibly damaging	Het
Kcnk1	C	A	8: 126,756,322 (GRCm39)	Y281*	probably null	Het
Kcp	G	T	6: 29,485,100 (GRCm39)	F1217L	probably null	Het
Lama3	G	A	18: 12,563,019 (GRCm39)	G514D	probably damaging	Het
Madd	A	G	2: 91,008,800 (GRCm39)	L34P	probably damaging	Het
Mak	T	A	13: 41,183,595 (GRCm39)	T562S	probably benign	Het
Nfatc4	A	G	14: 56,070,259 (GRCm39)	E879G	probably damaging	Het
Or5w14	A	T	2: 87,541,992 (GRCm39)	V86E	probably benign	Het
Pcdhb19	C	T	18: 37,631,848 (GRCm39)	R548C	probably damaging	Het
Peli2	A	G	14: 48,488,150 (GRCm39)	I165V	probably damaging	Het
Plekhd1	A	T	12: 80,753,977 (GRCm39)	M148L	probably benign	Het
Reck	T	C	4: 43,928,310 (GRCm39)	V537A	probably damaging	Het
Rnf135	T	A	11: 80,074,758 (GRCm39)	S6T	probably benign	Het
Sirpb1a	C	T	3: 15,476,320 (GRCm39)	C226Y	probably damaging	Het
Speg	A	C	1: 75,394,645 (GRCm39)	I1785L	probably benign	Het
Spry4	T	C	18: 38,723,070 (GRCm39)	N231S	probably damaging	Het
Tchh	C	T	3: 93,355,125 (GRCm39)	Q1522*	probably null	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Trav7d-3	G	T	14: 52,981,820 (GRCm39)		probably benign	Het
Vmn2r49	A	C	7: 9,720,849 (GRCm39)	V214G	probably benign	Het
Vmn2r80	T	C	10: 78,984,743 (GRCm39)	Y32H	probably benign	Het
Vwf	A	C	6: 125,577,662 (GRCm39)	D501A		Het
Zfp428	A	G	7: 24,214,866 (GRCm39)	T161A	possibly damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
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
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'- GGGACCCTTTGGAATAACATCTC -3'
(R):5'- CTAGGTATACATGAGACCCCAAG -3'

Sequencing Primer
(F):5'- CTTCATATCTTATGCAAGAAAACGC -3'
(R):5'- TGAGACCCCAAGATCAATTTCTAG -3'

Posted On

2022-08-09