Incidental Mutation 'R0967:Rars2'
| ID |
83897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rars2
|
| Ensembl Gene |
ENSMUSG00000028292 |
| Gene Name |
arginyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
1500002I10Rik, PRO1992, Rarsl |
| MMRRC Submission |
039096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
34614957-34660167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34646587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 284
(D284G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029968]
|
| AlphaFold |
Q3U186 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029968
AA Change: D284G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: D284G
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
| Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
| Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
| Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
| Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
| Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
| Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly damaging |
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 |
|
|
IGL03148:Rars2
|
APN |
4 |
34,650,243 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGACTACTATACTGAACGAACGCC -3'
(R):5'- AGACCATCCTTGCACTGCTGACTC -3'
Sequencing Primer
(F):5'- ACGAACGCCAGATACATGG -3'
(R):5'- cactgctgactcttccacc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation