Mutagenetix > Incidental Mutations

Incidental Mutation 'R0196:Hars2'

23472

Institutional Source

Beutler Lab

Gene Symbol

Hars2

Ensembl Gene

ENSMUSG00000019143

Gene Name

histidyl-tRNA synthetase 2

Synonyms

Harsl, HARSR, HO3

MMRRC Submission

038455-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36783008-36792562 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 36789204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 291 (Q291*)

Ref Sequence

ENSEMBL: ENSMUSP00000117231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001419] [ENSMUST00000019287] [ENSMUST00000152954]

AlphaFold

Q99KK9

Predicted Effect

probably benign
Transcript: ENSMUST00000001419

SMART Domains

Protein: ENSMUSP00000001419
Gene: ENSMUSG00000001383

Domain	Start	End	E-Value	Type
ZnF_U1	77	111	2.41e-11	SMART
ZnF_C2H2	80	104	5.48e0	SMART
coiled coil region	118	180	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000019287
AA Change: Q291*

SMART Domains

Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: Q291*

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: Q291*

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: Q291*

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

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247		probably benign	Het
Aass	G	A	6: 23,109,520	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643		probably null	Het
Amy1	A	T	3: 113,569,421	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514		probably null	Het
Hyal4	G	T	6: 24,756,221	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729		probably null	Het
Klhl25	T	C	7: 75,865,702	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725		probably null	Het
Ncr1	G	T	7: 4,340,973	C153F	probably damaging	Het
Nf1	T	A	11: 79,468,769	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,578,272	V786D	probably damaging	Het
Nisch	T	C	14: 31,203,394		probably benign	Het
Nwd2	T	A	5: 63,806,351	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698		probably null	Het
Pcnp	C	T	16: 56,024,533		probably benign	Het
Pdzd8	G	T	19: 59,301,131	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492		probably benign	Het
R3hdm2	T	C	10: 127,484,521	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254		probably benign	Het
Ugt1a1	C	T	1: 88,212,555	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226	T350A	probably damaging	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
IGL02805:Hars2	APN	18	36787577	nonsense	probably null
IGL02971:Hars2	APN	18	36786178	missense	probably damaging	1.00
IGL03373:Hars2	APN	18	36785945	missense	probably damaging	0.99
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
R9079:Hars2	UTSW	18	36790137	missense	possibly damaging	0.64
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

Predicted Primers

PCR Primer
(F):5'- CAGAGTTTAGCCTGGATAAAGGTTCCC -3'
(R):5'- ACCAGATTGTCATAGCGCCCAC -3'

Sequencing Primer
(F):5'- aaagtgggggcaggtgg -3'
(R):5'- GTATAATAGTCCAGGCCCCG -3'

Posted On

2013-04-16