Incidental Mutation 'R5714:Rars2'
| ID |
451037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rars2
|
| Ensembl Gene |
ENSMUSG00000028292 |
| Gene Name |
arginyl-tRNA synthetase 2, mitochondrial |
| Synonyms |
1500002I10Rik, PRO1992, Rarsl |
| MMRRC Submission |
043186-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
34614957-34660167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34645779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 232
(M232K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029968]
|
| AlphaFold |
Q3U186 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029968
AA Change: M232K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292
AA Change: M232K
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
T |
18: 65,438,532 (GRCm39) |
Q1421K |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,580,258 (GRCm39) |
T133M |
probably benign |
Het |
| Bcar3 |
G |
A |
3: 122,248,736 (GRCm39) |
V112M |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,039,804 (GRCm39) |
K1476R |
probably benign |
Het |
| Cdc42ep1 |
C |
A |
15: 78,733,977 (GRCm39) |
A359E |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,624,387 (GRCm39) |
D483V |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,700,799 (GRCm39) |
R156H |
probably damaging |
Het |
| Dpys |
T |
A |
15: 39,720,553 (GRCm39) |
H69L |
probably damaging |
Het |
| Fbxl21 |
A |
G |
13: 56,674,885 (GRCm39) |
I79V |
probably benign |
Het |
| Fgf9 |
T |
C |
14: 58,347,022 (GRCm39) |
L205P |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,562,835 (GRCm39) |
F144L |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,929,073 (GRCm38) |
D1934A |
probably damaging |
Het |
| Garre1 |
G |
A |
7: 33,939,941 (GRCm39) |
Q717* |
probably null |
Het |
| Glul |
T |
C |
1: 153,782,243 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
A |
11: 107,517,347 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,828,956 (GRCm39) |
Y42H |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,285,150 (GRCm39) |
V1040A |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,683 (GRCm39) |
|
probably null |
Het |
| Lypd3 |
A |
G |
7: 24,338,494 (GRCm39) |
T182A |
possibly damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,434 (GRCm39) |
I210K |
probably damaging |
Het |
| Nat8f2 |
A |
G |
6: 85,844,891 (GRCm39) |
V157A |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,187 (GRCm39) |
|
probably null |
Het |
| Pard3b |
C |
A |
1: 62,677,075 (GRCm39) |
A1140E |
probably null |
Het |
| Pcnt |
A |
T |
10: 76,256,325 (GRCm39) |
D638E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,673 (GRCm39) |
I834T |
probably damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,169,994 (GRCm39) |
L162H |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,101,739 (GRCm39) |
A1026S |
possibly damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,962,949 (GRCm39) |
L18* |
probably null |
Het |
| Rtl1 |
A |
G |
12: 109,560,114 (GRCm39) |
V575A |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,674,664 (GRCm39) |
T40S |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,688,387 (GRCm39) |
T58A |
probably damaging |
Het |
| Slc27a6 |
A |
T |
18: 58,731,625 (GRCm39) |
E325V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srd5a3 |
T |
A |
5: 76,301,413 (GRCm39) |
F214Y |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,092 (GRCm39) |
L5Q |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,684,016 (GRCm39) |
Q779K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,652,837 (GRCm39) |
P216S |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,132,454 (GRCm39) |
Q892L |
probably benign |
Het |
| Vgll4 |
A |
T |
6: 114,867,737 (GRCm39) |
M38K |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,773,121 (GRCm39) |
I500T |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,563 (GRCm39) |
I135V |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,675,261 (GRCm39) |
|
probably null |
Het |
| Zfp457 |
C |
A |
13: 67,444,490 (GRCm39) |
M4I |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,606 (GRCm39) |
G180R |
possibly damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,871 (GRCm39) |
T457A |
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 |
|
|
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 |
|
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'- ACGCTTTGTCATGTGGCCTC -3'
(R):5'- TTTTAGCTCTCTACCCCAAGAACG -3'
Sequencing Primer
(F):5'- CTTGGTTAACTTTCCATGGGGACTC -3'
(R):5'- GAACGACATTCCACTGAATTTTCAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation