Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Hars2'

50083

Institutional Source

Beutler Lab

Gene Symbol

Hars2

Ensembl Gene

ENSMUSG00000019143

Gene Name

histidyl-tRNA synthetase 2

Synonyms

HARSR, 4631412B19Rik, HO3, Harsl

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R0543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36916257-36925615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36922477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 337 (E337K)

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 damaging
Transcript: ENSMUST00000152954
AA Change: E337K

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

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: E337K

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

Meta Mutation Damage Score

0.2580

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Ccser2	A	T	14: 36,662,149 (GRCm39)	M345K	probably benign	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nostrin	T	G	2: 69,019,475 (GRCm39)	*507E	probably null	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Or5w17	C	A	2: 87,583,994 (GRCm39)	L114F	probably damaging	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Semp2l2b	T	C	10: 21,942,823 (GRCm39)	S386G	possibly damaging	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	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
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
R5886:Hars2	UTSW	18	36,923,150 (GRCm39)	intron	probably benign
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'- ACCTGAAGCTGCTCTTTGAATACCTG -3'
(R):5'- CCTTTGCAGTAGCAATTCCAAAAGGC -3'

Sequencing Primer
(F):5'- GAATACCTGAGGTTATTTGGAATTGC -3'
(R):5'- TCTTAGCCTTCAGGGGCAC -3'

Posted On

2013-06-12