Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Nars2'

397056

Institutional Source

Beutler Lab

Gene Symbol

Nars2

Ensembl Gene

ENSMUSG00000018995

Gene Name

asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)

Synonyms

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96600712-96713965 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 96709027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000150681]

AlphaFold

Q8BGV0

Predicted Effect

probably benign
Transcript: ENSMUST00000044466

SMART Domains

Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:tRNA_anti-codon	44	118	2.4e-12	PFAM
Pfam:tRNA-synt_2	135	472	1.4e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122835

Predicted Effect

probably benign
Transcript: ENSMUST00000150681

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,301 (GRCm39)	T229S	probably benign	Het
Adrb3	T	C	8: 27,717,348 (GRCm39)	E367G	probably benign	Het
Ak9	T	A	10: 41,233,653 (GRCm39)	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cry1	T	A	10: 84,969,150 (GRCm39)	H558L	probably benign	Het
Cstdc3	A	T	16: 36,132,918 (GRCm39)	H65L	probably damaging	Het
Cyp3a57	T	A	5: 145,305,893 (GRCm39)	W126R	probably damaging	Het
Dhx36	A	T	3: 62,401,201 (GRCm39)	V355E	probably damaging	Het
Dpp6	A	G	5: 27,604,013 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	T	C	15: 54,710,692 (GRCm39)	D694G	probably benign	Het
Esrp2	T	C	8: 106,859,930 (GRCm39)	E336G	probably damaging	Het
Faah	A	T	4: 115,857,938 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,478,846 (GRCm39)	G2608R	probably benign	Het
Fbxo8	A	T	8: 57,022,354 (GRCm39)	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,051,215 (GRCm39)	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,320,410 (GRCm39)	F252L	probably damaging	Het
Fnip2	T	C	3: 79,389,084 (GRCm39)	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,257,131 (GRCm39)	N206S	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
H2-T10	T	A	17: 36,429,843 (GRCm39)		probably null	Het
Henmt1	T	C	3: 108,847,366 (GRCm39)		probably null	Het
Man1b1	T	A	2: 25,233,365 (GRCm39)	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,812,329 (GRCm39)		probably null	Het
Mocos	T	C	18: 24,787,109 (GRCm39)	F43L	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Naip5	T	A	13: 100,359,914 (GRCm39)	I441F	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Ncoa2	A	T	1: 13,245,396 (GRCm39)	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394 (GRCm38)		noncoding transcript	Het
Or14j8	T	A	17: 38,263,255 (GRCm39)	Q220L	probably benign	Het
Or9a2	G	T	6: 41,748,706 (GRCm39)	H176N	possibly damaging	Het
Pals2	T	A	6: 50,155,495 (GRCm39)	W259R	probably damaging	Het
Pars2	A	G	4: 106,511,735 (GRCm39)	T506A	probably benign	Het
Pkp2	T	C	16: 16,078,200 (GRCm39)	S481P	probably damaging	Het
Plod3	T	C	5: 137,020,161 (GRCm39)	W459R	probably damaging	Het
Pramel13	A	T	4: 144,121,482 (GRCm39)	L181M	probably damaging	Het
Prdm10	A	T	9: 31,251,714 (GRCm39)	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Raver2	T	C	4: 100,959,921 (GRCm39)	C134R	probably damaging	Het
Rnf130	G	C	11: 49,943,722 (GRCm39)	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,707,207 (GRCm39)	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,376,759 (GRCm39)	S138T	possibly damaging	Het
Spred1	T	C	2: 117,008,102 (GRCm39)	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,473,263 (GRCm39)	M504K	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Trim23	C	T	13: 104,317,682 (GRCm39)	T61I	probably damaging	Het
Tsg101	T	C	7: 46,542,174 (GRCm39)	T260A	probably damaging	Het
Tyw5	T	C	1: 57,440,618 (GRCm39)	Y48C	probably damaging	Het
Utp25	G	T	1: 192,796,089 (GRCm39)	T192K	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,693,620 (GRCm39)	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,123,423 (GRCm39)	S117G	probably benign	Het
Zfp93	C	G	7: 23,975,757 (GRCm39)	Q581E	probably damaging	Het

Other mutations in Nars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Nars2	APN	7	96,680,787 (GRCm39)	missense	probably benign	0.40
IGL00796:Nars2	APN	7	96,680,786 (GRCm39)	missense	probably benign	0.00
IGL00990:Nars2	APN	7	96,651,997 (GRCm39)	splice site	probably benign
IGL02954:Nars2	APN	7	96,689,100 (GRCm39)	splice site	probably null
IGL03256:Nars2	APN	7	96,689,117 (GRCm39)	missense	possibly damaging	0.67
IGL03394:Nars2	APN	7	96,689,220 (GRCm39)	missense	possibly damaging	0.94
R0600:Nars2	UTSW	7	96,689,130 (GRCm39)	missense	probably damaging	1.00
R0943:Nars2	UTSW	7	96,605,138 (GRCm39)	splice site	probably benign
R1389:Nars2	UTSW	7	96,652,036 (GRCm39)	missense	probably benign
R4076:Nars2	UTSW	7	96,607,301 (GRCm39)	missense	probably damaging	0.99
R4397:Nars2	UTSW	7	96,622,771 (GRCm39)	critical splice donor site	probably null
R4758:Nars2	UTSW	7	96,622,735 (GRCm39)	missense	probably damaging	1.00
R4771:Nars2	UTSW	7	96,684,452 (GRCm39)	missense	probably damaging	1.00
R4908:Nars2	UTSW	7	96,672,948 (GRCm39)	missense	probably benign	0.07
R6209:Nars2	UTSW	7	96,706,728 (GRCm39)	missense	probably benign	0.00
R7464:Nars2	UTSW	7	96,689,137 (GRCm39)	missense	probably benign	0.40
R7979:Nars2	UTSW	7	96,711,868 (GRCm39)	missense	probably damaging	1.00
R8284:Nars2	UTSW	7	96,600,845 (GRCm39)	utr 5 prime	probably benign
R8885:Nars2	UTSW	7	96,652,095 (GRCm39)	missense	probably damaging	0.98
R9614:Nars2	UTSW	7	96,689,125 (GRCm39)	missense	probably damaging	0.99
R9658:Nars2	UTSW	7	96,689,178 (GRCm39)	missense	probably benign	0.00
Z1176:Nars2	UTSW	7	96,601,104 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCCTGCTGCATTGATTGGCG -3'
(R):5'- ATACTCAGCTCACGTGCCAAG -3'

Sequencing Primer
(F):5'- GGGCACAGGCTTCATTCACTATG -3'
(R):5'- TGGATGACAGCACTATCTACCTC -3'

Posted On

2016-06-21