Incidental Mutation 'R3726:Rars2'
ID |
270780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rars2
|
Ensembl Gene |
ENSMUSG00000028292 |
Gene Name |
arginyl-tRNA synthetase 2, mitochondrial |
Synonyms |
1500002I10Rik, PRO1992, Rarsl |
MMRRC Submission |
040717-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3726 (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 34645787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 235
(T235A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029968]
|
AlphaFold |
Q3U186 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029968
AA Change: T235A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029968 Gene: ENSMUSG00000028292 AA Change: T235A
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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
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 |
4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,988,669 (GRCm39) |
H497R |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,744,920 (GRCm39) |
C201R |
possibly damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
Iqcg |
C |
T |
16: 32,849,411 (GRCm39) |
E292K |
probably damaging |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
Rnf216 |
A |
T |
5: 143,013,701 (GRCm39) |
I708N |
probably damaging |
Het |
Six5 |
T |
A |
7: 18,830,855 (GRCm39) |
V494E |
possibly damaging |
Het |
Slc43a2 |
A |
G |
11: 75,433,980 (GRCm39) |
|
probably benign |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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 |
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'- GTCATGTGGCCTCTTGGTTAAC -3'
(R):5'- TTTAGCTCTCTACCCCAAGAACG -3'
Sequencing Primer
(F):5'- AACTTTCCATGGGGACTCAG -3'
(R):5'- GAACGACATTCCACTGAATTTTCAAC -3'
|
Posted On |
2015-03-18 |