Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Nars2'

367507

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 #

R4771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96951505-97064758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97035245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 325 (E325V)

Ref Sequence

ENSEMBL: ENSMUSP00000102777 (fasta)

Gene Model

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

AlphaFold

Q8BGV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044466
AA Change: E325V

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

SMART Domains

Protein: ENSMUSP00000044937
Gene: ENSMUSG00000018995
AA Change: E325V

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: E325V

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

SMART Domains

Protein: ENSMUSP00000102777
Gene: ENSMUSG00000018995
AA Change: E325V

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

silent
Transcript: ENSMUST00000122835

Predicted Effect

probably benign
Transcript: ENSMUST00000150681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206109

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	A	G	19: 23,558,973	L190P	probably damaging	Het
2310022B05Rik	T	C	8: 124,639,561	T148A	probably benign	Het
Abcc4	G	T	14: 118,484,384	N1234K	probably benign	Het
Adamts20	C	T	15: 94,351,635		probably null	Het
Aqp9	C	T	9: 71,122,870	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,622	N533I	probably damaging	Het
Brwd1	A	G	16: 96,003,318	V1884A	probably benign	Het
Casc4	T	A	2: 121,925,645	V352E	probably damaging	Het
Ccdc106	G	A	7: 5,057,522		probably null	Het
Cfap46	A	T	7: 139,630,608	L1774Q	probably null	Het
Clec2h	G	A	6: 128,674,155	E133K	probably damaging	Het
Cntn1	T	A	15: 92,305,091	F751L	possibly damaging	Het
Col20a1	A	T	2: 180,989,124	M62L	probably benign	Het
Col7a1	T	C	9: 108,971,925	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,685	L28*	probably null	Het
Crb1	T	A	1: 139,328,204	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,334,577	S426T	probably benign	Het
Cspg5	T	A	9: 110,251,127	N373K	probably damaging	Het
Ctso	T	C	3: 81,932,740	S26P	probably benign	Het
Depdc1b	A	C	13: 108,382,900	D348A	probably benign	Het
Diaph1	A	T	18: 37,853,551	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,593,380	K397*	probably null	Het
Dock3	T	A	9: 106,952,358	H1119L	possibly damaging	Het
Dok4	G	T	8: 94,865,167		probably null	Het
Dram2	A	G	3: 106,573,045	T225A	probably damaging	Het
Dst	G	A	1: 34,249,484	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,725,968	F18S	probably damaging	Het
Epha5	A	G	5: 84,150,419	V427A	probably damaging	Het
Exoc4	A	T	6: 33,441,949		probably null	Het
Exph5	C	T	9: 53,373,665	T682I	possibly damaging	Het
Fam35a	G	A	14: 34,268,706	T81M	probably damaging	Het
Fam92a	T	A	4: 12,155,689	Q311L	probably benign	Het
Fnbp1l	A	T	3: 122,558,103	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,834,488	D580E	probably benign	Het
Gm10277	G	A	11: 77,785,708		probably benign	Het
Gtf2a1l	C	A	17: 88,690,020	P93Q	probably benign	Het
Hydin	A	T	8: 110,532,883	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,912,467	I6S	probably benign	Het
Irs1	A	G	1: 82,287,975	V840A	probably benign	Het
Itgal	A	G	7: 127,328,233	E965G	probably damaging	Het
Izumo1	T	G	7: 45,622,809	F5V	probably benign	Het
Izumo1	T	A	7: 45,622,810	F5Y	probably damaging	Het
Kif13a	A	G	13: 46,825,211	S175P	probably damaging	Het
Klf14	A	G	6: 30,958,025	F225L	probably damaging	Het
Kpna1	T	C	16: 36,033,403	Y468H	probably damaging	Het
Krt5	T	A	15: 101,709,059	Q413L	probably damaging	Het
Lbr	T	C	1: 181,838,421	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,315,873	N229Y	probably damaging	Het
March3	T	A	18: 56,783,098	H175L	probably benign	Het
Mcmbp	A	G	7: 128,698,400		probably null	Het
Med27	T	A	2: 29,413,503	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,869,065	Q196L	possibly damaging	Het
Mga	T	C	2: 119,964,294	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,251,365	L1104F	probably damaging	Het
Mta3	A	G	17: 83,755,674	E166G	probably damaging	Het
Mthfd2l	A	G	5: 90,948,868	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706	I155V	probably benign	Het
Myh7b	G	A	2: 155,626,394	W834*	probably null	Het
Myo18b	T	A	5: 112,692,227	R2567*	probably null	Het
Nploc4	A	G	11: 120,421,434	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,405,482	S167R	probably damaging	Het
Nup133	T	A	8: 123,929,398	D448V	probably damaging	Het
Olfr1042	G	T	2: 86,160,073	T99N	probably benign	Het
Olfr495	A	T	7: 108,396,022	K301*	probably null	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pcdh8	C	T	14: 79,768,270	A893T	possibly damaging	Het
Per3	A	T	4: 151,009,259	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282	S44P	probably damaging	Het
Pou4f2	T	A	8: 78,435,236	H246L	possibly damaging	Het
Psmd2	G	A	16: 20,662,679	R828Q	probably damaging	Het
Ptprq	A	G	10: 107,688,427	S482P	probably benign	Het
Rbm14	G	T	19: 4,802,643		probably benign	Het
Reln	T	C	5: 22,049,700	D557G	probably damaging	Het
Rhobtb2	A	G	14: 69,797,050	I242T	probably benign	Het
Runx1	C	A	16: 92,695,741	V5L	possibly damaging	Het
Slc13a1	A	T	6: 24,100,340	Y381*	probably null	Het
Smyd3	A	T	1: 179,094,396	C180S	probably damaging	Het
Sntg2	T	A	12: 30,276,659		probably null	Het
Snx19	G	A	9: 30,433,638	V678I	probably damaging	Het
Spag5	G	A	11: 78,304,766	A300T	probably damaging	Het
Spdl1	T	A	11: 34,813,327	R560W	probably damaging	Het
Spen	T	C	4: 141,472,596	T2884A	probably benign	Het
Spg11	G	A	2: 122,065,482	Q1752*	probably null	Het
Srrm4	C	A	5: 116,475,175		probably null	Het
Ssc4d	A	G	5: 135,970,220	L43P	probably damaging	Het
Sspo	A	G	6: 48,460,879	D1324G	probably damaging	Het
Tkt	T	G	14: 30,567,025	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,377,177	N76K	probably benign	Het
Trpm6	A	G	19: 18,813,493	M631V	probably damaging	Het
Ttll6	A	C	11: 96,133,829	E15A	possibly damaging	Het
Ttn	T	C	2: 76,738,952	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,487,153		probably null	Het
Ubr5	A	C	15: 38,018,297	I866M	possibly damaging	Het
Urb1	T	C	16: 90,753,518	T2149A	probably benign	Het
Ush2a	G	T	1: 188,797,769	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,362,180		probably null	Het
Vill	T	A	9: 119,068,434	M259K	probably damaging	Het
Vldlr	T	C	19: 27,239,890	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,524,887	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,800	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,929,539	V1773A	probably benign	Het
Vtn	A	G	11: 78,501,574	D326G	probably benign	Het
Wdr93	A	T	7: 79,776,763	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,499,135	D94G	probably damaging	Het
Zfand4	A	T	6: 116,314,350	E188V	probably damaging	Het
Zfp523	C	A	17: 28,201,338		probably null	Het
Zfp536	T	C	7: 37,568,884	D369G	probably damaging	Het
Zfp608	T	A	18: 54,988,300	T72S	probably benign	Het
Zfp804a	T	A	2: 82,257,942	V705E	probably benign	Het
Zfp974	T	C	7: 27,926,308	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,479,246	Q52*	probably null	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
R0600:Nars2	UTSW	7	97039923	missense	probably damaging	1.00
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
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'- ATGCTGGTCAAGAGTGGGAC -3'
(R):5'- GCACAGTTCCACAAATTCTCATG -3'

Sequencing Primer
(F):5'- GTGGGACTAGTAAACAGCCACTTCTC -3'
(R):5'- AGTTCCACAAATTCTCATGTCACC -3'

Posted On

2015-12-29