Incidental Mutation 'R1188:Hars2'
| ID |
102397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hars2
|
| Ensembl Gene |
ENSMUSG00000019143 |
| Gene Name |
histidyl-tRNA synthetase 2 |
| Synonyms |
HARSR, 4631412B19Rik, HO3, Harsl |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36916257-36925615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36921022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 198
(I198T)
|
| 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: I198T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143
AA Change: I198T
| 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: I198T
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143
AA Change: I198T
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
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 |
|
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'- TCACACTGGGACAGCATGGCTAAG -3'
(R):5'- CCGACGGTCATTTACCTGTCAACTC -3'
Sequencing Primer
(F):5'- gcagggaatgtaattctgggtg -3'
(R):5'- ATAATTAACCTATGTCCTGGCAATC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation