Incidental Mutation 'R5539:Tor2a'
| ID |
435805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tor2a
|
| Ensembl Gene |
ENSMUSG00000009563 |
| Gene Name |
torsin family 2, member A |
| Synonyms |
|
| MMRRC Submission |
043097-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R5539 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32647289-32652256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32650672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 222
(I222T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000125891]
[ENSMUST00000161430]
[ENSMUST00000177382]
[ENSMUST00000161950]
[ENSMUST00000175763]
[ENSMUST00000161089]
[ENSMUST00000156617]
|
| AlphaFold |
Q8R1J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009707
AA Change: I222T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563
AA Change: I222T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
35 |
160 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066478
|
| SMART Domains |
Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091059
|
| SMART Domains |
Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140999
AA Change: I216T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161430
|
| SMART Domains |
Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
807 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177382
|
| SMART Domains |
Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
35 |
101 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161950
|
| SMART Domains |
Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175763
|
| SMART Domains |
Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161089
|
| SMART Domains |
Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156617
|
| SMART Domains |
Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,917 (GRCm39) |
S44C |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,963,557 (GRCm39) |
I846V |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,111,932 (GRCm39) |
L144H |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,437 (GRCm39) |
I1210N |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,191,587 (GRCm39) |
T330A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,486 (GRCm39) |
K2444E |
probably benign |
Het |
| Dnajc3 |
G |
A |
14: 119,208,159 (GRCm39) |
V265M |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,753 (GRCm39) |
Y2222N |
unknown |
Het |
| Flnc |
G |
T |
6: 29,446,229 (GRCm39) |
G882V |
probably damaging |
Het |
| Fndc5 |
T |
A |
4: 129,032,514 (GRCm39) |
V39D |
probably damaging |
Het |
| Gabrr3 |
A |
T |
16: 59,281,758 (GRCm39) |
H371L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,030,438 (GRCm39) |
H33L |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,124,646 (GRCm39) |
|
noncoding transcript |
Het |
| Kri1 |
G |
A |
9: 21,190,668 (GRCm39) |
Q280* |
probably null |
Het |
| Lcp1 |
T |
C |
14: 75,466,738 (GRCm39) |
V615A |
probably benign |
Het |
| Ltbp4 |
T |
C |
7: 27,027,149 (GRCm39) |
Y407C |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,164,317 (GRCm39) |
V416A |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,044,898 (GRCm39) |
R1607C |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,056,525 (GRCm39) |
|
probably null |
Het |
| Ntf5 |
G |
T |
7: 45,065,354 (GRCm39) |
R162L |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,711,034 (GRCm39) |
W2R |
possibly damaging |
Het |
| Or10d1c |
T |
C |
9: 38,893,573 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or14j4 |
T |
A |
17: 37,921,646 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
G |
A |
9: 18,666,134 (GRCm39) |
R266C |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,433 (GRCm39) |
C115S |
probably benign |
Het |
| Pan2 |
C |
A |
10: 128,144,002 (GRCm39) |
D99E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,414,797 (GRCm39) |
H776R |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,264 (GRCm39) |
H1342R |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,394,464 (GRCm39) |
T1800A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,591,760 (GRCm39) |
*148W |
probably null |
Het |
| Pygo1 |
C |
T |
9: 72,852,061 (GRCm39) |
P83S |
probably damaging |
Het |
| Raf1 |
G |
T |
6: 115,596,317 (GRCm39) |
S619R |
probably damaging |
Het |
| Rtf1 |
A |
G |
2: 119,560,405 (GRCm39) |
M596V |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,829,126 (GRCm39) |
D578E |
possibly damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,153,737 (GRCm39) |
V18A |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,070,783 (GRCm39) |
I977K |
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,334,541 (GRCm39) |
V347A |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,851,386 (GRCm39) |
S893P |
probably damaging |
Het |
| Trmt10c |
G |
A |
16: 55,855,324 (GRCm39) |
P104S |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,850,877 (GRCm39) |
Y1765F |
probably damaging |
Het |
| Zfp951 |
C |
T |
5: 104,962,712 (GRCm39) |
E285K |
probably damaging |
Het |
|
| Other mutations in Tor2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Tor2a
|
APN |
2 |
32,649,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01551:Tor2a
|
APN |
2 |
32,650,595 (GRCm39) |
intron |
probably benign |
|
|
IGL02995:Tor2a
|
APN |
2 |
32,651,509 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03001:Tor2a
|
APN |
2 |
32,647,329 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03229:Tor2a
|
APN |
2 |
32,649,704 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0234:Tor2a
|
UTSW |
2 |
32,648,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Tor2a
|
UTSW |
2 |
32,648,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Tor2a
|
UTSW |
2 |
32,648,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Tor2a
|
UTSW |
2 |
32,648,870 (GRCm39) |
missense |
probably benign |
|
|
R4837:Tor2a
|
UTSW |
2 |
32,650,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Tor2a
|
UTSW |
2 |
32,651,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5908:Tor2a
|
UTSW |
2 |
32,651,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Tor2a
|
UTSW |
2 |
32,651,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8903:Tor2a
|
UTSW |
2 |
32,651,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGACGTGGCTGTCATG -3'
(R):5'- ACTATGGTGCAGTGGACAATGTG -3'
Sequencing Primer
(F):5'- TGGCTGTCATGGGGAGAAG -3'
(R):5'- ATGGGACTATGGTGCAGTGGAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation