Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Nars2'

358321

Institutional Source

Beutler Lab

Gene Symbol

Nars2

Ensembl Gene

ENSMUSG00000018995

Gene Name

asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96600712-96713965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96622735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 187 (D187G)

Ref Sequence

ENSEMBL: ENSMUSP00000102777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000107159]

AlphaFold

Q8BGV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044466
AA Change: D187G

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

SMART Domains

Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: D187G

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 damaging
Transcript: ENSMUST00000107159
AA Change: D187G

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

SMART Domains

Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: D187G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:tRNA_anti-codon	44	118	7.6e-14	PFAM
Pfam:tRNA-synt_2	135	390	5.4e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149204

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,127,754 (GRCm39)	Y119N	probably damaging	Het
Actn2	T	A	13: 12,303,472 (GRCm39)	K443*	probably null	Het
Adgrb2	A	G	4: 129,903,143 (GRCm39)	N581S	probably damaging	Het
Afg2a	T	A	3: 37,487,385 (GRCm39)	S416T	probably benign	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Aox1	A	G	1: 58,371,741 (GRCm39)	I802V	probably benign	Het
Arhgap45	G	A	10: 79,866,127 (GRCm39)	G995E	probably benign	Het
Capn12	A	C	7: 28,592,148 (GRCm39)	T689P	possibly damaging	Het
Cars1	T	C	7: 143,125,304 (GRCm39)	S312G	probably benign	Het
Cast	T	A	13: 74,887,999 (GRCm39)	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,662,800 (GRCm39)	E72K	possibly damaging	Het
Cd300lg	G	T	11: 101,944,417 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,671,368 (GRCm39)		probably benign	Het
Chrna3	A	G	9: 54,929,560 (GRCm39)	Y93H	probably damaging	Het
Cic	A	G	7: 24,991,636 (GRCm39)	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,135,160 (GRCm39)	V526A	probably benign	Het
Clec4a1	G	T	6: 122,910,825 (GRCm39)	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,159 (GRCm39)	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527 (GRCm39)	C4F	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Decr2	C	A	17: 26,307,914 (GRCm39)	E46D	probably damaging	Het
Dlg1	G	A	16: 31,610,570 (GRCm39)	V284I	possibly damaging	Het
Dnah3	T	C	7: 119,678,629 (GRCm39)	E360G	probably benign	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Dnajc13	A	G	9: 104,049,773 (GRCm39)	F1783L	probably damaging	Het
Eps8l2	T	A	7: 140,940,286 (GRCm39)	D505E	probably damaging	Het
Eral1	G	A	11: 77,966,425 (GRCm39)	T251I	probably benign	Het
Eya3	T	C	4: 132,422,196 (GRCm39)		probably null	Het
Fam120a	G	A	13: 49,034,333 (GRCm39)	T1093I	probably benign	Het
Fbn2	C	T	18: 58,159,458 (GRCm39)	A2424T	probably benign	Het
Git2	G	A	5: 114,868,412 (GRCm39)	T256M	probably damaging	Het
Gm9805	A	T	17: 22,689,871 (GRCm38)	Y34F	probably benign	Het
Itgb7	T	G	15: 102,124,642 (GRCm39)	T792P	probably benign	Het
Jakmip1	T	A	5: 37,285,966 (GRCm39)	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,446,635 (GRCm39)	Y677H	probably damaging	Het
Klhdc4	G	A	8: 122,524,783 (GRCm39)	P382S	probably benign	Het
Knl1	TCC	TC	2: 118,902,213 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,022,269 (GRCm39)	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,078,570 (GRCm39)	M1L	possibly damaging	Het
Lrrc37	A	G	11: 103,505,290 (GRCm39)	V2226A	possibly damaging	Het
Magi3	T	A	3: 103,922,637 (GRCm39)	D1360V	probably benign	Het
Mier2	C	A	10: 79,386,182 (GRCm39)	C23F	probably damaging	Het
Myo1h	C	T	5: 114,487,643 (GRCm39)	R616C	probably damaging	Het
Nbea	T	C	3: 55,912,824 (GRCm39)	M988V	probably benign	Het
Nlrc5	C	A	8: 95,238,956 (GRCm39)	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,043 (GRCm39)	F177L	probably benign	Het
Oas1a	A	G	5: 121,045,401 (GRCm39)	F47L	probably damaging	Het
Oas1f	A	G	5: 120,985,545 (GRCm39)	E30G	probably damaging	Het
Obscn	A	T	11: 58,894,189 (GRCm39)	M6689K	unknown	Het
Obscn	A	T	11: 59,026,743 (GRCm39)	D153E	probably damaging	Het
Or52s6	A	C	7: 103,092,076 (GRCm39)	C85G	probably damaging	Het
Osmr	A	T	15: 6,882,036 (GRCm39)	I36K	probably benign	Het
Pcf11	A	T	7: 92,310,383 (GRCm39)	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,160,706 (GRCm39)	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,492,127 (GRCm39)	C242S	probably benign	Het
Pikfyve	T	A	1: 65,311,674 (GRCm39)	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,369,316 (GRCm39)	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,169,652 (GRCm39)	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prdm10	A	T	9: 31,273,708 (GRCm39)	T985S	probably benign	Het
Proc	T	A	18: 32,256,863 (GRCm39)	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,517,320 (GRCm39)	T365M	probably damaging	Het
Rasa1	A	T	13: 85,382,567 (GRCm39)	D446E	probably benign	Het
Ribc2	T	A	15: 85,025,867 (GRCm39)	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907 (GRCm39)	D385G	probably damaging	Het
Sdk2	A	G	11: 113,717,880 (GRCm39)	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,831,726 (GRCm39)		probably null	Het
Slc43a3	A	G	2: 84,774,869 (GRCm39)	N149S	probably damaging	Het
Specc1l	A	G	10: 75,082,182 (GRCm39)	Q543R	probably damaging	Het
Spef1	T	C	2: 131,014,661 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,969,966 (GRCm39)	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,080,370 (GRCm39)	V821A	probably benign	Het
Stac3	A	G	10: 127,339,214 (GRCm39)	M108V	possibly damaging	Het
Stradb	A	G	1: 59,027,730 (GRCm39)	T87A	probably benign	Het
Stxbp5l	A	T	16: 36,954,592 (GRCm39)	M906K	probably benign	Het
Tex14	T	C	11: 87,405,311 (GRCm39)	V741A	probably benign	Het
Thoc2l	A	C	5: 104,668,265 (GRCm39)	E929A	possibly damaging	Het
Tpo	C	A	12: 30,125,870 (GRCm39)	G830C	probably damaging	Het
Unc79	T	A	12: 103,128,080 (GRCm39)	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,777,016 (GRCm39)	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,314,473 (GRCm39)	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,208,596 (GRCm39)	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,801,867 (GRCm39)	Y302H	probably benign	Het
Xirp2	A	T	2: 67,346,879 (GRCm39)	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,209,758 (GRCm39)	G684W	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
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
R5162:Nars2	UTSW	7	96,709,027 (GRCm39)	utr 3 prime	probably benign
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'- GCCTGATCTTTGAACCGTGTTG -3'
(R):5'- TTCTAGCTCCAGTGGAATAACAG -3'

Sequencing Primer
(F):5'- GAACCGTGTTGTATTTGGAGAG -3'
(R):5'- ACGGGAGCTGTGTGAATG -3'

Posted On

2015-11-11