Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Hars2'

163062

Institutional Source

Beutler Lab

Gene Symbol

Hars2

Ensembl Gene

ENSMUSG00000019143

Gene Name

histidyl-tRNA synthetase 2

Synonyms

HARSR, 4631412B19Rik, HO3, Harsl

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36916257-36925615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36922270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 295 (A295V)

Ref Sequence

ENSEMBL: ENSMUSP00000019287 (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

possibly damaging
Transcript: ENSMUST00000019287
AA Change: A295V

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: A295V

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
AA Change: A295V

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: A295V

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: 97.8%
10x: 94.4%
20x: 86.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,561,430 (GRCm39)	F252L	probably benign	Het
Aadac	A	T	3: 59,947,351 (GRCm39)	M350L	probably damaging	Het
Agtrap	G	A	4: 148,168,422 (GRCm39)	T19I	probably damaging	Het
Apba3	C	T	10: 81,107,590 (GRCm39)	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,347,412 (GRCm39)	K133I	probably damaging	Het
Cep295	A	C	9: 15,233,861 (GRCm39)	C2312G	probably benign	Het
Ces1a	A	G	8: 93,760,659 (GRCm39)	V231A	probably damaging	Het
Chdh	C	A	14: 29,758,791 (GRCm39)	L579I	probably damaging	Het
Cyb5r4	T	A	9: 86,904,286 (GRCm39)	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,256,709 (GRCm39)	R355L	probably benign	Het
Dach2	T	C	X: 112,208,472 (GRCm39)	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,692,769 (GRCm39)	R93K	probably benign	Het
Dph2	G	T	4: 117,746,865 (GRCm39)	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,812,099 (GRCm39)	D634G	probably benign	Het
Fam217b	G	A	2: 178,062,218 (GRCm39)	V61I	probably benign	Het
Fbln7	A	C	2: 128,719,299 (GRCm39)	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,490,239 (GRCm39)	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,223,528 (GRCm39)	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,765 (GRCm39)	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420 (GRCm39)	G152D	probably damaging	Het
Galntl6	G	T	8: 58,925,989 (GRCm39)	P92Q	probably damaging	Het
Gm5592	A	T	7: 40,935,596 (GRCm39)	T33S	probably benign	Het
Grid2ip	A	T	5: 143,348,406 (GRCm39)	T166S	probably benign	Het
Grsf1	G	A	5: 88,813,723 (GRCm39)	S225L	probably benign	Het
Hadha	G	T	5: 30,333,834 (GRCm39)	T395K	probably benign	Het
Hsf5	T	A	11: 87,528,995 (GRCm39)	S577T	probably benign	Het
Ice2	A	G	9: 69,307,809 (GRCm39)	Y31C	probably damaging	Het
Ift80	A	T	3: 68,822,116 (GRCm39)	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Ilvbl	C	A	10: 78,412,430 (GRCm39)	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942 (GRCm39)	S858*	probably null	Het
Ipo13	T	G	4: 117,761,592 (GRCm39)	T508P	probably damaging	Het
Itgb4	T	C	11: 115,885,163 (GRCm39)	I1015T	probably benign	Het
Kank4	A	T	4: 98,668,175 (GRCm39)	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,760,063 (GRCm39)	A906T	probably benign	Het
Klk4	G	A	7: 43,534,706 (GRCm39)	V222M	probably damaging	Het
Lipo4	T	A	19: 33,476,741 (GRCm39)	M336L	probably benign	Het
Lrig1	T	C	6: 94,583,111 (GRCm39)	N1002D	probably benign	Het
Lzts3	A	G	2: 130,477,219 (GRCm39)	S524P	probably damaging	Het
Maz	A	T	7: 126,622,324 (GRCm39)	C409*	probably null	Het
Mmp24	A	T	2: 155,656,047 (GRCm39)	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 46,885,050 (GRCm39)	V206I	possibly damaging	Het
Myof	A	G	19: 37,983,933 (GRCm39)	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,551,517 (GRCm39)	V1030D	probably damaging	Het
Neb	T	A	2: 52,150,544 (GRCm39)	I2495F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nup153	T	C	13: 46,842,657 (GRCm39)	D837G	probably damaging	Het
Nup210	C	A	6: 91,052,942 (GRCm39)	G331V	probably damaging	Het
Or5b97	T	C	19: 12,878,320 (GRCm39)	T275A	probably benign	Het
Or5w18	T	C	2: 87,633,480 (GRCm39)	L245P	probably damaging	Het
Or6z7	A	G	7: 6,484,008 (GRCm39)		probably null	Het
Or8b56	T	A	9: 38,739,634 (GRCm39)	S210T	probably benign	Het
Pabpc4	T	A	4: 123,182,852 (GRCm39)	L163H	probably damaging	Het
Pcdh7	T	A	5: 57,878,882 (GRCm39)	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,525 (GRCm39)	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,138,902 (GRCm39)	I649M	probably benign	Het
Plcl2	G	A	17: 50,914,757 (GRCm39)	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674 (GRCm39)	T325N	possibly damaging	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,529,021 (GRCm39)		probably benign	Het
Ptcd2	A	G	13: 99,481,105 (GRCm39)	S25P	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137 (GRCm39)	V481E	probably damaging	Het
Sephs2	G	T	7: 126,872,139 (GRCm39)	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,042,313 (GRCm39)	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,750,519 (GRCm39)		probably null	Het
Slc66a2	T	G	18: 80,326,529 (GRCm39)	S126A	probably benign	Het
Smarca2	T	C	19: 26,608,228 (GRCm39)	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,184,368 (GRCm39)	I637L	probably benign	Het
Ston2	A	T	12: 91,707,266 (GRCm39)	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999 (GRCm39)	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,733,447 (GRCm39)	T41S	probably benign	Het
Tent4b	T	A	8: 88,969,937 (GRCm39)	M203K	possibly damaging	Het
Tespa1	T	C	10: 130,196,560 (GRCm39)	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,438 (GRCm39)	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,875,967 (GRCm39)		probably benign	Het
Txnl4a	T	C	18: 80,250,479 (GRCm39)	V25A	probably benign	Het
Utp4	C	A	8: 107,632,908 (GRCm39)	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,613,922 (GRCm39)	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Vmn2r121	C	A	X: 123,037,837 (GRCm39)	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,763,692 (GRCm39)	S190T	probably damaging	Het
Zfp507	A	G	7: 35,475,435 (GRCm39)	V926A	possibly 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
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'- CAGAGTTTAGCCTGGATAAAGGTTCCC -3'
(R):5'- ACCAGATTGTCATAGCGCCCAC -3'

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

Posted On

2014-03-17