Incidental Mutation 'IGL03358:Pars2'
| ID |
420017 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pars2
|
| Ensembl Gene |
ENSMUSG00000043572 |
| Gene Name |
prolyl-tRNA synthetase (mitochondrial)(putative) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
IGL03358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106508266-106512479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106510239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 7
(H7L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058905]
[ENSMUST00000106781]
[ENSMUST00000106782]
|
| AlphaFold |
Q8CFI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058905
|
| SMART Domains |
Protein: ENSMUSP00000053160
Gene: ENSMUSG00000043572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_2b
|
98 |
268 |
4.8e-36 |
PFAM |
|
Pfam:HGTP_anticodon
|
371 |
470 |
8.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106781
AA Change: H7L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102393
Gene: ENSMUSG00000043572
AA Change: H7L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_2b
|
178 |
391 |
4.1e-36 |
PFAM |
|
Pfam:HGTP_anticodon
|
407 |
506 |
3.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106782
|
| SMART Domains |
Protein: ENSMUSP00000102394
Gene: ENSMUSG00000043572
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2I4O|C
|
63 |
162 |
2e-8 |
PDB |
|
SCOP:d1atia2
|
95 |
162 |
4e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146966
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,905,716 (GRCm39) |
N496D |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
| Alad |
G |
A |
4: 62,428,844 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
| Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
| Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
| Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
| Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
| Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
| Spg21 |
G |
A |
9: 65,387,698 (GRCm39) |
V164I |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
| Tsr1 |
T |
C |
11: 74,794,824 (GRCm39) |
V493A |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,404,472 (GRCm39) |
|
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
| Vmn1r81 |
T |
G |
7: 11,994,232 (GRCm39) |
R125S |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
| Other mutations in Pars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Pars2
|
APN |
4 |
106,511,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4378001:Pars2
|
UTSW |
4 |
106,511,490 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1384:Pars2
|
UTSW |
4 |
106,510,913 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1874:Pars2
|
UTSW |
4 |
106,510,913 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1875:Pars2
|
UTSW |
4 |
106,510,913 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2041:Pars2
|
UTSW |
4 |
106,510,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Pars2
|
UTSW |
4 |
106,511,247 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4790:Pars2
|
UTSW |
4 |
106,508,308 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4794:Pars2
|
UTSW |
4 |
106,511,407 (GRCm39) |
nonsense |
probably null |
|
|
R5162:Pars2
|
UTSW |
4 |
106,511,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6066:Pars2
|
UTSW |
4 |
106,511,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Pars2
|
UTSW |
4 |
106,510,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Pars2
|
UTSW |
4 |
106,511,700 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7710:Pars2
|
UTSW |
4 |
106,511,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Pars2
|
UTSW |
4 |
106,511,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Pars2
|
UTSW |
4 |
106,511,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Pars2
|
UTSW |
4 |
106,511,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8707:Pars2
|
UTSW |
4 |
106,510,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Pars2
|
UTSW |
4 |
106,511,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pars2
|
UTSW |
4 |
106,510,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation