Incidental Mutation 'R0549:Hars2'
| ID |
45050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hars2
|
| Ensembl Gene |
ENSMUSG00000019143 |
| Gene Name |
histidyl-tRNA synthetase 2 |
| Synonyms |
HARSR, 4631412B19Rik, HO3, Harsl |
| MMRRC Submission |
038741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R0549 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36916257-36925615 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 36919261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
[ENSMUST00000019287]
[ENSMUST00000152954]
|
| AlphaFold |
Q99KK9 |
| 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
|
| 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 null
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
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,633,216 (GRCm39) |
F498L |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,433,763 (GRCm39) |
D64V |
possibly damaging |
Het |
| Agbl2 |
T |
C |
2: 90,620,187 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,919,692 (GRCm39) |
S151G |
probably benign |
Het |
| Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
| C4b |
G |
T |
17: 34,954,389 (GRCm39) |
L927I |
probably damaging |
Het |
| Ccl3 |
T |
C |
11: 83,539,162 (GRCm39) |
T66A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 110,036,674 (GRCm39) |
L618P |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,957,603 (GRCm39) |
T989A |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,667,226 (GRCm39) |
D377E |
probably damaging |
Het |
| Cnpy4 |
T |
C |
5: 138,185,899 (GRCm39) |
F18S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,781,778 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
G |
A |
16: 48,139,034 (GRCm39) |
R289H |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,489,478 (GRCm39) |
T96A |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,778 (GRCm39) |
E577G |
possibly damaging |
Het |
| Gcgr |
G |
A |
11: 120,427,387 (GRCm39) |
G166S |
probably benign |
Het |
| Gm5316 |
T |
C |
6: 122,877,150 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,119,799 (GRCm39) |
R292Q |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,236,019 (GRCm39) |
T508S |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,410 (GRCm39) |
I291N |
probably damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,784,001 (GRCm39) |
T377S |
probably benign |
Het |
| Lrrc28 |
A |
G |
7: 67,278,090 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
A |
T |
9: 7,455,638 (GRCm39) |
N463I |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,196,065 (GRCm39) |
F578S |
probably damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,168,476 (GRCm39) |
M608K |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,359,597 (GRCm39) |
F1412L |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,141,227 (GRCm39) |
W1083R |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,446,241 (GRCm39) |
Y45C |
probably benign |
Het |
| Or3a1b |
T |
G |
11: 74,012,301 (GRCm39) |
M62R |
probably damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,958,368 (GRCm39) |
R881L |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,324,974 (GRCm39) |
E456G |
possibly damaging |
Het |
| Pbxip1 |
T |
A |
3: 89,350,899 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
G |
14: 122,875,789 (GRCm39) |
|
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,695,414 (GRCm39) |
N511I |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,103,030 (GRCm39) |
I435F |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,355,908 (GRCm39) |
T4117M |
probably damaging |
Het |
| Sel1l2 |
A |
T |
2: 140,107,802 (GRCm39) |
M216K |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,864,417 (GRCm39) |
|
probably null |
Het |
| Sirt3 |
A |
T |
7: 140,449,400 (GRCm39) |
|
probably null |
Het |
| Smpd4 |
T |
C |
16: 17,457,176 (GRCm39) |
V378A |
probably benign |
Het |
| Svil |
T |
A |
18: 5,064,566 (GRCm39) |
S642T |
possibly damaging |
Het |
| Tcp10a |
A |
G |
17: 7,593,950 (GRCm39) |
K92E |
probably benign |
Het |
| Tmem144 |
T |
C |
3: 79,730,051 (GRCm39) |
D233G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,625,069 (GRCm39) |
S335P |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,150 (GRCm39) |
L4786P |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,579,872 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,641 (GRCm39) |
N241D |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,199,963 (GRCm39) |
C497S |
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 |
|
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'- TTCAAACGTCATGGGGCGAAGG -3'
(R):5'- ACTGAAGTTAAACAACAGGGCCTGG -3'
Sequencing Primer
(F):5'- GCTGAGAACCCCATTGTTTG -3'
(R):5'- TGCCAGAAAAAGTCCTCTGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation