Incidental Mutation 'IGL03148:Rars2'
| ID |
410963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rars2
|
| Ensembl Gene |
ENSMUSG00000028292 |
| Gene Name |
arginyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
1500002I10Rik, PRO1992, Rarsl |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
34614957-34660167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34650243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 343
(I343F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029968]
|
| AlphaFold |
Q3U186 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029968
AA Change: I343F
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: I343F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1d
|
110 |
449 |
1e-97 |
PFAM |
|
DALR_1
|
463 |
578 |
3.64e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142045
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
G |
11: 99,728,079 (GRCm39) |
S255P |
unknown |
Het |
| Adamtsl2 |
T |
A |
2: 26,974,071 (GRCm39) |
Y125N |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,293 (GRCm39) |
E214G |
probably benign |
Het |
| Bhmt2 |
T |
A |
13: 93,803,161 (GRCm39) |
D124V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,317,874 (GRCm39) |
H271R |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,276,925 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,755,588 (GRCm39) |
I234F |
probably benign |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,278,062 (GRCm39) |
C995Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,144 (GRCm39) |
E252G |
probably damaging |
Het |
| Dhrs1 |
A |
T |
14: 55,978,748 (GRCm39) |
Y133* |
probably null |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,075 (GRCm39) |
I1300V |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,787,952 (GRCm39) |
Y670C |
probably damaging |
Het |
| Frg1 |
T |
G |
8: 41,864,321 (GRCm39) |
K66N |
probably benign |
Het |
| Gbp2b |
C |
A |
3: 142,312,642 (GRCm39) |
H342N |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,959,307 (GRCm39) |
I287S |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,578,203 (GRCm39) |
L150P |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,457,045 (GRCm39) |
R1299Q |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,073,971 (GRCm39) |
N407D |
probably damaging |
Het |
| Mcemp1 |
T |
A |
8: 3,717,390 (GRCm39) |
|
probably null |
Het |
| Nav1 |
A |
C |
1: 135,397,762 (GRCm39) |
N802K |
possibly damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,831 (GRCm39) |
N601K |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,172,053 (GRCm39) |
H564L |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,185 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
G |
T |
14: 67,259,744 (GRCm39) |
N317K |
probably benign |
Het |
| Pramel47 |
A |
G |
5: 95,489,177 (GRCm39) |
T207A |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,355,833 (GRCm39) |
F4092S |
probably damaging |
Het |
| Tcp11 |
A |
G |
17: 28,289,444 (GRCm39) |
V209A |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,187,124 (GRCm39) |
S1102G |
probably benign |
Het |
|
| Other mutations in Rars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02121:Rars2
|
APN |
4 |
34,657,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02143:Rars2
|
APN |
4 |
34,623,404 (GRCm39) |
splice site |
probably benign |
|
|
IGL02378:Rars2
|
APN |
4 |
34,656,199 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03035:Rars2
|
APN |
4 |
34,656,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0238:Rars2
|
UTSW |
4 |
34,656,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Rars2
|
UTSW |
4 |
34,656,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Rars2
|
UTSW |
4 |
34,645,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Rars2
|
UTSW |
4 |
34,645,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Rars2
|
UTSW |
4 |
34,630,505 (GRCm39) |
nonsense |
probably null |
|
|
R0967:Rars2
|
UTSW |
4 |
34,646,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2276:Rars2
|
UTSW |
4 |
34,656,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3726:Rars2
|
UTSW |
4 |
34,645,787 (GRCm39) |
missense |
probably benign |
|
|
R4642:Rars2
|
UTSW |
4 |
34,656,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5144:Rars2
|
UTSW |
4 |
34,656,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5714:Rars2
|
UTSW |
4 |
34,645,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5919:Rars2
|
UTSW |
4 |
34,657,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5946:Rars2
|
UTSW |
4 |
34,656,855 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7200:Rars2
|
UTSW |
4 |
34,645,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8049:Rars2
|
UTSW |
4 |
34,650,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8202:Rars2
|
UTSW |
4 |
34,656,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Rars2
|
UTSW |
4 |
34,657,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8772:Rars2
|
UTSW |
4 |
34,623,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9401:Rars2
|
UTSW |
4 |
34,654,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Rars2
|
UTSW |
4 |
34,637,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9705:Rars2
|
UTSW |
4 |
34,646,561 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0011:Rars2
|
UTSW |
4 |
34,652,176 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation