Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Rars2'

618922

Institutional Source

Beutler Lab

Gene Symbol

Rars2

Ensembl Gene

ENSMUSG00000028292

Gene Name

arginyl-tRNA synthetase 2, mitochondrial

Synonyms

1500002I10Rik, PRO1992, Rarsl

MMRRC Submission

067486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34614957-34660167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34650217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 334 (M334K)

Ref Sequence

ENSEMBL: ENSMUSP00000029968 (fasta)

Gene Model

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

AlphaFold

Q3U186

Predicted Effect

probably benign
Transcript: ENSMUST00000029968
AA Change: M334K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: M334K

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: 98.8%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	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
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
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'- TTACATCTCCCAAGGCCTTG -3'
(R):5'- GGTTACTAATTCTTCCACACAAACC -3'

Sequencing Primer
(F):5'- CAAGGCCTTGGATTTACTTTTCAAG -3'
(R):5'- ATTGTGCCAGGACTCACATG -3'

Posted On

2020-01-23