Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Nars2'

55305

Institutional Source

Beutler Lab

Gene Symbol

Nars2

Ensembl Gene

ENSMUSG00000018995

Gene Name

asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)

Synonyms

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0600 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

96951505-97064758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97039923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 351 (H351Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044466] [ENSMUST00000107159] [ENSMUST00000150681]

AlphaFold

Q8BGV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044466
AA Change: H351Y

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

SMART Domains

Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: H351Y

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: H351Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: H351Y

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

probably benign
Transcript: ENSMUST00000122835

Predicted Effect

probably benign
Transcript: ENSMUST00000150681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206109

Meta Mutation Damage Score

0.9360

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,357,660	S150P	probably damaging	Het
4932431P20Rik	T	A	7: 29,533,265		noncoding transcript	Het
5530400C23Rik	T	G	6: 133,293,211		probably benign	Het
Ahctf1	A	C	1: 179,763,468		probably null	Het
Ang5	T	C	14: 43,962,749	V90A	probably benign	Het
Ano9	C	T	7: 141,104,710	G442R	probably damaging	Het
Apaf1	G	A	10: 91,060,052	T386I	probably damaging	Het
Apob	C	A	12: 8,006,440	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433		probably benign	Het
Asxl1	T	A	2: 153,399,904	D791E	probably benign	Het
Avl9	T	C	6: 56,736,906	V383A	probably benign	Het
Btbd1	A	C	7: 81,816,006	D197E	probably damaging	Het
C87499	A	T	4: 88,629,299	I45K	probably damaging	Het
Camta2	T	C	11: 70,673,959	I938V	possibly damaging	Het
Cdca7	C	A	2: 72,483,467	A200D	possibly damaging	Het
Cep104	A	T	4: 154,006,792	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,621,305	V601L	probably benign	Het
Ces2b	G	A	8: 104,835,910	G291S	probably benign	Het
Col6a6	C	T	9: 105,761,440	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,813,117	E1G	probably damaging	Het
Dand5	A	T	8: 84,816,292	L185Q	probably damaging	Het
Dck	T	C	5: 88,781,221	V253A	probably benign	Het
Ddx20	A	G	3: 105,679,080	S650P	probably damaging	Het
Dicer1	G	A	12: 104,706,864	P799S	probably damaging	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eya2	G	A	2: 165,769,237	C477Y	probably damaging	Het
Fam208b	A	T	13: 3,576,054	F1299I	probably benign	Het
Fip1l1	T	A	5: 74,595,842	N498K	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Galntl6	T	C	8: 57,837,183		probably null	Het
Gda	A	T	19: 21,434,303	F44I	possibly damaging	Het
Gli2	G	A	1: 118,840,389	R703C	probably damaging	Het
Gm14085	A	T	2: 122,514,398	I162F	probably damaging	Het
Golgb1	T	A	16: 36,916,271	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,308,355	D341G	probably damaging	Het
Grid2	G	T	6: 63,503,435	A78S	probably benign	Het
Hao2	A	T	3: 98,883,560		probably benign	Het
Hook3	A	G	8: 26,118,986	V10A	probably benign	Het
Kif20a	A	G	18: 34,629,209	E425G	probably damaging	Het
Lrp1	T	C	10: 127,567,383	D2107G	probably benign	Het
Lrriq3	T	C	3: 155,187,736	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,140,924	D17G	possibly damaging	Het
Mastl	G	T	2: 23,133,346	T455K	probably benign	Het
Mkln1	G	T	6: 31,432,927		probably benign	Het
Mmp1b	A	T	9: 7,387,947	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,792,597	A79V	probably benign	Het
Mrps35	T	A	6: 147,070,734	C292S	possibly damaging	Het
Myom1	T	C	17: 71,120,648	F1435L	possibly damaging	Het
Nat2	A	T	8: 67,501,267	I10F	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm5	A	T	7: 104,153,869	Y462*	probably null	Het
Olfr1228	C	A	2: 89,249,398	E87*	probably null	Het
Olfr1339	C	T	4: 118,734,789	H87Y	probably damaging	Het
Olfr1508	T	C	14: 52,463,509	I167V	probably benign	Het
Olfr322	C	A	11: 58,666,160	F200L	probably damaging	Het
Olfr340	C	A	2: 36,452,648	A21E	probably benign	Het
Olfr44	A	T	9: 39,484,988	F85L	probably benign	Het
Olfr495	T	A	7: 108,395,231	I37N	probably damaging	Het
Olfr855	T	C	9: 19,585,304	S256P	possibly damaging	Het
Olfr926	T	A	9: 38,877,815	I213N	probably damaging	Het
Otog	A	T	7: 46,251,395		probably benign	Het
Pdcd2l	A	T	7: 34,192,807	D212E	possibly damaging	Het
Pex5	T	C	6: 124,404,637	N213S	probably benign	Het
Pkn3	C	T	2: 30,081,134	P238S	probably benign	Het
Prl2b1	A	T	13: 27,390,740		probably null	Het
Ptprb	A	T	10: 116,368,807	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,393,526	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,701,833	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,603,764	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,708,057	S436P	probably damaging	Het
Slc27a1	C	T	8: 71,584,164	P348L	probably damaging	Het
Smg1	G	A	7: 118,160,383		probably benign	Het
Sorl1	A	T	9: 42,043,900		probably benign	Het
Sprtn	T	A	8: 124,900,218	H112Q	probably damaging	Het
Tet2	A	G	3: 133,467,602	M1633T	probably benign	Het
Tet2	T	A	3: 133,467,725	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667	C8S	probably damaging	Het
Tnrc6a	T	A	7: 123,171,816	I943N	probably benign	Het
Trib2	A	T	12: 15,794,068	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,762,655	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,239,570	R250G	probably damaging	Het
Ubr2	T	C	17: 46,967,248	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,409,364	I63F	probably damaging	Het
Ush1c	G	A	7: 46,224,908	P171S	probably benign	Het
Utp20	A	T	10: 88,767,461	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,166,937	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,678,015	F431L	probably benign	Het
Wdr17	A	G	8: 54,661,495	I662T	probably damaging	Het
Wisp2	G	A	2: 163,825,313	C78Y	probably damaging	Het
Zfp160	G	A	17: 21,027,006	R606H	probably benign	Het
Zfp369	C	T	13: 65,296,434	R464C	probably damaging	Het

Other mutations in Nars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Nars2	APN	7	97031579	missense	probably benign	0.00
IGL00796:Nars2	APN	7	97031580	missense	probably benign	0.40
IGL00990:Nars2	APN	7	97002790	splice site	probably benign
IGL02954:Nars2	APN	7	97039893	splice site	probably null
IGL03256:Nars2	APN	7	97039910	missense	possibly damaging	0.67
IGL03394:Nars2	APN	7	97040013	missense	possibly damaging	0.94
R0943:Nars2	UTSW	7	96955931	splice site	probably benign
R1389:Nars2	UTSW	7	97002829	missense	probably benign
R4076:Nars2	UTSW	7	96958094	missense	probably damaging	0.99
R4397:Nars2	UTSW	7	96973564	critical splice donor site	probably null
R4758:Nars2	UTSW	7	96973528	missense	probably damaging	1.00
R4771:Nars2	UTSW	7	97035245	missense	probably damaging	1.00
R4908:Nars2	UTSW	7	97023741	missense	probably benign	0.07
R5162:Nars2	UTSW	7	97059820	utr 3 prime	probably benign
R6209:Nars2	UTSW	7	97057521	missense	probably benign	0.00
R7464:Nars2	UTSW	7	97039930	missense	probably benign	0.40
R7979:Nars2	UTSW	7	97062661	missense	probably damaging	1.00
R8284:Nars2	UTSW	7	96951638	utr 5 prime	probably benign
R8885:Nars2	UTSW	7	97002888	missense	probably damaging	0.98
R9614:Nars2	UTSW	7	97039918	missense	probably damaging	0.99
R9658:Nars2	UTSW	7	97039971	missense	probably benign	0.00
Z1176:Nars2	UTSW	7	96951897	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGTTGACTGCTACTCCCTGAGACG -3'
(R):5'- TAGAACACTGGGCTCTGTGGGAAG -3'

Sequencing Primer
(F):5'- GGGCACAGAAACAATAGTGTTTATC -3'
(R):5'- CTCTGTGGGAAGACCGATG -3'

Posted On

2013-07-11