Incidental Mutation 'R4351:Hars2'
| ID |
328528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hars2
|
| Ensembl Gene |
ENSMUSG00000019143 |
| Gene Name |
histidyl-tRNA synthetase 2 |
| Synonyms |
HARSR, 4631412B19Rik, HO3, Harsl |
| MMRRC Submission |
041106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R4351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36916257-36925615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36919231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 123
(E123G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019287
(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 damaging
Transcript: ENSMUST00000019287
AA Change: E123G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: E123G
| 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 |
possibly damaging
Transcript: ENSMUST00000152954
AA Change: E123G
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: E123G
| 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 |
0.4286 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
| Ak6 |
C |
T |
13: 100,792,111 (GRCm39) |
Q185* |
probably null |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,535 (GRCm39) |
Y27H |
probably benign |
Het |
| Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
| Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
| Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Evx1 |
A |
G |
6: 52,290,846 (GRCm39) |
D6G |
probably damaging |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,373,794 (GRCm39) |
T269A |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
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 |
|
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'- CTGAGAACCCCATTGTTTGC -3'
(R):5'- TTCTGCGGACTTCTTGGAGAC -3'
Sequencing Primer
(F):5'- AGAACCCCATTGTTTGCATGCC -3'
(R):5'- TTAAACAACAGGGCCTGGATGTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation