Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Hars2'

456133

Institutional Source

Beutler Lab

Gene Symbol

Hars2

Ensembl Gene

ENSMUSG00000019143

Gene Name

histidyl-tRNA synthetase 2

Synonyms

HARSR, 4631412B19Rik, HO3, Harsl

MMRRC Submission

044088-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R5886 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36916257-36925615 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 36923150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000019287

SMART Domains

Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143

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 benign
Transcript: ENSMUST00000152954

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143

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: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Adam26b	T	C	8: 43,973,310 (GRCm39)	E564G	possibly damaging	Het
Akap1	A	G	11: 88,725,486 (GRCm39)		probably null	Het
Akap5	T	A	12: 76,374,619 (GRCm39)	V10E	possibly damaging	Het
Atad2	A	T	15: 57,961,910 (GRCm39)	L887*	probably null	Het
Brd10	T	C	19: 29,696,677 (GRCm39)	I939V	probably benign	Het
C1qbp	A	G	11: 70,873,008 (GRCm39)	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,772,998 (GRCm39)	G92D	probably damaging	Het
Cacna1a	T	C	8: 85,249,651 (GRCm39)	I219T	probably damaging	Het
Capn12	A	G	7: 28,587,030 (GRCm39)	N333S	probably benign	Het
Ccdc154	C	T	17: 25,390,792 (GRCm39)	T644I	probably benign	Het
Cd200r1	T	C	16: 44,610,566 (GRCm39)	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,499,402 (GRCm39)		probably null	Het
Coq4	A	T	2: 29,680,626 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,324,834 (GRCm39)		probably benign	Het
Cyp4f17	A	T	17: 32,743,013 (GRCm39)	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,986,819 (GRCm39)	A200E	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,134,291 (GRCm39)	S276T	possibly damaging	Het
Efcab15	A	G	11: 103,098,947 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,582 (GRCm39)	I351M	probably benign	Het
Fat1	G	A	8: 45,480,718 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,486,432 (GRCm39)	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm973	T	A	1: 59,597,409 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,799,375 (GRCm39)	L124Q	probably damaging	Het
Hcrt	G	A	11: 100,652,759 (GRCm39)	A85V	probably damaging	Het
Hivep1	A	G	13: 42,310,088 (GRCm39)	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,796,691 (GRCm39)	S200T	probably damaging	Het
Krt40	C	T	11: 99,430,907 (GRCm39)	A201T	probably benign	Het
Lca5	G	A	9: 83,281,734 (GRCm39)	A350V	probably benign	Het
Lrig2	T	A	3: 104,370,014 (GRCm39)	M515L	probably benign	Het
Mbd5	A	G	2: 49,162,464 (GRCm39)	D90G	probably damaging	Het
Mfsd4a	C	T	1: 131,995,465 (GRCm39)	V56I	probably damaging	Het
Mpi	A	G	9: 57,455,745 (GRCm39)		probably benign	Het
Mroh4	G	T	15: 74,478,296 (GRCm39)	D935E	possibly damaging	Het
Mtg1	G	T	7: 139,729,778 (GRCm39)		probably null	Het
Nanos1	T	A	19: 60,745,268 (GRCm39)	C189S	probably damaging	Het
Naprt	A	C	15: 75,763,324 (GRCm39)		probably null	Het
Nubpl	T	A	12: 52,228,092 (GRCm39)		probably null	Het
Or10ad1b	T	C	15: 98,124,672 (GRCm39)	T285A	possibly damaging	Het
Or10d4	G	T	9: 39,581,252 (GRCm39)	V300L	probably benign	Het
Or8g23	T	A	9: 38,971,678 (GRCm39)	T95S	probably benign	Het
Or9g20	A	G	2: 85,630,147 (GRCm39)	S156P	probably damaging	Het
Otud4	T	A	8: 80,399,436 (GRCm39)	Y717N	probably damaging	Het
Pakap	T	A	4: 57,856,295 (GRCm39)	D582E	probably damaging	Het
Pnpla1	T	C	17: 29,095,837 (GRCm39)	F86S	possibly damaging	Het
Prlhr	C	T	19: 60,456,014 (GRCm39)	W184*	probably null	Het
Rtp3	A	G	9: 110,816,204 (GRCm39)	S116P	probably damaging	Het
Sema3c	T	C	5: 17,886,984 (GRCm39)	I345T	possibly damaging	Het
Skor2	T	C	18: 76,947,124 (GRCm39)	L282P	unknown	Het
Slc24a4	T	C	12: 102,226,674 (GRCm39)	V468A	probably damaging	Het
Slfn8	C	T	11: 82,894,160 (GRCm39)	M826I	probably benign	Het
Tacc2	A	G	7: 130,330,850 (GRCm39)	D378G	probably benign	Het
Thbs3	C	A	3: 89,127,470 (GRCm39)	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,707,948 (GRCm39)		probably benign	Het
Tm7sf2	A	G	19: 6,116,572 (GRCm39)		probably benign	Het
Trappc8	T	C	18: 21,007,737 (GRCm39)	Y126C	probably damaging	Het
Trim35	C	G	14: 66,541,502 (GRCm39)	L209V	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Trip12	C	T	1: 84,708,179 (GRCm39)		probably benign	Het
Trp53bp1	A	G	2: 121,035,502 (GRCm39)	V1583A	probably damaging	Het
Tuba5-ps	A	G	1: 134,447,937 (GRCm39)		noncoding transcript	Het
Tubgcp6	A	T	15: 88,987,450 (GRCm39)	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,611,910 (GRCm39)	D969N	probably benign	Het
Vldlr	C	A	19: 27,221,171 (GRCm39)	S612R	probably benign	Het
Vps13a	T	C	19: 16,641,926 (GRCm39)	T2234A	probably benign	Het
Vps39	A	G	2: 120,152,053 (GRCm39)		probably benign	Het
Zdhhc3	A	T	9: 122,920,146 (GRCm39)	C120S	probably benign	Het
Zfp37	A	G	4: 62,109,471 (GRCm39)	F531S	probably damaging	Het

Other mutations in Hars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Hars2	APN	18	36,918,989 (GRCm39)	missense	probably damaging	1.00
IGL00955:Hars2	APN	18	36,922,410 (GRCm39)	splice site	probably benign
IGL01570:Hars2	APN	18	36,920,645 (GRCm39)	missense	probably benign	0.04
IGL01618:Hars2	APN	18	36,922,630 (GRCm39)	nonsense	probably null
IGL02165:Hars2	APN	18	36,916,447 (GRCm39)	start codon destroyed	probably null	1.00
IGL02290:Hars2	APN	18	36,918,679 (GRCm39)	missense	possibly damaging	0.56
IGL02685:Hars2	APN	18	36,924,171 (GRCm39)	missense	probably benign	0.18
IGL02805:Hars2	APN	18	36,920,630 (GRCm39)	nonsense	probably null
IGL02971:Hars2	APN	18	36,919,231 (GRCm39)	missense	probably damaging	1.00
IGL03373:Hars2	APN	18	36,918,998 (GRCm39)	missense	probably damaging	0.99
perry	UTSW	18	36,923,190 (GRCm39)	missense	possibly damaging	0.64
R0196:Hars2	UTSW	18	36,922,257 (GRCm39)	nonsense	probably null
R0543:Hars2	UTSW	18	36,922,477 (GRCm39)	missense	probably damaging	1.00
R0549:Hars2	UTSW	18	36,919,261 (GRCm39)	critical splice donor site	probably null
R0557:Hars2	UTSW	18	36,924,130 (GRCm39)	missense	possibly damaging	0.94
R0893:Hars2	UTSW	18	36,920,648 (GRCm39)	missense	possibly damaging	0.56
R1188:Hars2	UTSW	18	36,921,022 (GRCm39)	missense	probably damaging	0.99
R1289:Hars2	UTSW	18	36,916,465 (GRCm39)	splice site	probably null
R1381:Hars2	UTSW	18	36,922,270 (GRCm39)	missense	possibly damaging	0.68
R2401:Hars2	UTSW	18	36,922,576 (GRCm39)	missense	possibly damaging	0.95
R4119:Hars2	UTSW	18	36,923,541 (GRCm39)	missense	probably damaging	0.98
R4351:Hars2	UTSW	18	36,919,231 (GRCm39)	missense	probably damaging	1.00
R4404:Hars2	UTSW	18	36,918,989 (GRCm39)	missense	probably damaging	1.00
R5372:Hars2	UTSW	18	36,923,534 (GRCm39)	missense	possibly damaging	0.93
R5629:Hars2	UTSW	18	36,921,719 (GRCm39)	nonsense	probably null
R7069:Hars2	UTSW	18	36,921,009 (GRCm39)	missense	probably damaging	0.99
R7070:Hars2	UTSW	18	36,924,165 (GRCm39)	nonsense	probably null
R7188:Hars2	UTSW	18	36,923,614 (GRCm39)	missense	probably benign	0.08
R7683:Hars2	UTSW	18	36,921,289 (GRCm39)	missense	probably damaging	1.00
R7834:Hars2	UTSW	18	36,922,634 (GRCm39)	missense	probably damaging	0.98
R7903:Hars2	UTSW	18	36,919,245 (GRCm39)	missense	probably damaging	1.00
R8249:Hars2	UTSW	18	36,921,054 (GRCm39)	missense	probably damaging	0.99
R8329:Hars2	UTSW	18	36,922,288 (GRCm39)	missense	possibly damaging	0.94
R8362:Hars2	UTSW	18	36,923,228 (GRCm39)	missense	probably benign
R9079:Hars2	UTSW	18	36,923,190 (GRCm39)	missense	possibly damaging	0.64
R9720:Hars2	UTSW	18	36,920,607 (GRCm39)	missense	probably damaging	1.00
RF015:Hars2	UTSW	18	36,918,998 (GRCm39)	missense	probably damaging	0.99
Z1177:Hars2	UTSW	18	36,923,651 (GRCm39)	missense	possibly damaging	0.84
Z1177:Hars2	UTSW	18	36,922,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTTTGGAATTGCTACTGC -3'
(R):5'- GATCACTGTGCCGACATACAC -3'

Sequencing Primer
(F):5'- TGCATGCCTAGTACCAAAGGATGTC -3'
(R):5'- TGTGCCGACATACACCCAGATC -3'

Posted On

2017-02-15