Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02805:Hars2'

360394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hars2

Ensembl Gene

ENSMUSG00000019143

Gene Name

histidyl-tRNA synthetase 2

Synonyms

Harsl, HARSR, HO3

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

36783008-36792562 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 36787577 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 158 (R158*)

Ref Sequence

ENSEMBL: ENSMUSP00000117231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000019287] [ENSMUST00000152954]

Predicted Effect

probably benign
Transcript: ENSMUST00000001416

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380

Domain	Start	End	E-Value	Type
WHEP-TRS	7	60	5.37e-11	SMART
Pfam:tRNA-synt_His	61	389	1.9e-41	PFAM
Pfam:HGTP_anticodon2	404	507	3.3e-12	PFAM
Pfam:HGTP_anticodon	410	501	4.4e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000019287
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: R158*

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:tRNA-synt_His	61	313	1.3e-23	PFAM
Pfam:tRNA-synt_2b	72	234	2.8e-21	PFAM
Pfam:HGTP_anticodon2	324	424	2.7e-8	PFAM
Pfam:HGTP_anticodon	329	420	2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145876

Predicted Effect

probably null
Transcript: ENSMUST00000152954
AA Change: R158*

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: R158*

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:tRNA-synt_His	61	389	1e-38	PFAM
Pfam:HGTP_anticodon	410	501	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155842

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: 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 histidine to tRNA molecules. Mutations in a similar gene in human have been associated with Perrault syndrome 2 (PRLTS2). [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dnaaf3	C	T	7: 4,523,705	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		probably benign	Het

Other mutations in Hars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Hars2	APN	18	36785936	missense	probably damaging	1.00
IGL00955:Hars2	APN	18	36789357	splice site	probably benign
IGL01570:Hars2	APN	18	36787592	missense	probably benign	0.04
IGL01618:Hars2	APN	18	36789577	nonsense	probably null
IGL02165:Hars2	APN	18	36783394	start codon destroyed	probably null	1.00
IGL02290:Hars2	APN	18	36785626	missense	possibly damaging	0.56
IGL02685:Hars2	APN	18	36791118	missense	probably benign	0.18
IGL02971:Hars2	APN	18	36786178	missense	probably damaging	1.00
IGL03373:Hars2	APN	18	36785945	missense	probably damaging	0.99
R0196:Hars2	UTSW	18	36789204	nonsense	probably null
R0543:Hars2	UTSW	18	36789424	missense	probably damaging	1.00
R0549:Hars2	UTSW	18	36786208	critical splice donor site	probably null
R0557:Hars2	UTSW	18	36791077	missense	possibly damaging	0.94
R0893:Hars2	UTSW	18	36787595	missense	possibly damaging	0.56
R1188:Hars2	UTSW	18	36787969	missense	probably damaging	0.99
R1289:Hars2	UTSW	18	36783412	splice site	probably null
R1381:Hars2	UTSW	18	36789217	missense	possibly damaging	0.68
R2401:Hars2	UTSW	18	36789523	missense	possibly damaging	0.95
R4119:Hars2	UTSW	18	36790488	missense	probably damaging	0.98
R4351:Hars2	UTSW	18	36786178	missense	probably damaging	1.00
R4404:Hars2	UTSW	18	36785936	missense	probably damaging	1.00
R5372:Hars2	UTSW	18	36790481	missense	possibly damaging	0.93
R5629:Hars2	UTSW	18	36788666	nonsense	probably null
R5886:Hars2	UTSW	18	36790097	intron	probably benign
R7069:Hars2	UTSW	18	36787956	missense	probably damaging	0.99
R7070:Hars2	UTSW	18	36791112	nonsense	probably null
R7188:Hars2	UTSW	18	36790561	missense	probably benign	0.08
R7683:Hars2	UTSW	18	36788236	missense	probably damaging	1.00
R7834:Hars2	UTSW	18	36789581	missense	probably damaging	0.98
R7903:Hars2	UTSW	18	36786192	missense	probably damaging	1.00
R8249:Hars2	UTSW	18	36788001	missense	probably damaging	0.99
R8329:Hars2	UTSW	18	36789235	missense	possibly damaging	0.94
R8362:Hars2	UTSW	18	36790175	missense	probably benign
RF015:Hars2	UTSW	18	36785945	missense	probably damaging	0.99
Z1177:Hars2	UTSW	18	36789575	missense	probably damaging	1.00
Z1177:Hars2	UTSW	18	36790598	missense	possibly damaging	0.84

Posted On

2015-12-18