Incidental Mutation 'R2046:Trim2'
| ID |
221932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim2
|
| Ensembl Gene |
ENSMUSG00000027993 |
| Gene Name |
tripartite motif-containing 2 |
| Synonyms |
neural activity-related ring finger protein, narf |
| MMRRC Submission |
040053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R2046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84115596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 86
(L86P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054990]
[ENSMUST00000065380]
[ENSMUST00000107691]
[ENSMUST00000107692]
[ENSMUST00000107693]
[ENSMUST00000107695]
[ENSMUST00000122849]
[ENSMUST00000132283]
[ENSMUST00000147901]
[ENSMUST00000154152]
|
| AlphaFold |
Q9ESN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054990
AA Change: L112P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: L112P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
49 |
89 |
3.5e-9 |
SMART |
|
BBOX
|
139 |
180 |
3.52e-14 |
SMART |
|
BBC
|
187 |
313 |
1.7e-38 |
SMART |
|
IG_FLMN
|
350 |
450 |
2.41e-30 |
SMART |
|
Pfam:NHL
|
512 |
539 |
2e-8 |
PFAM |
|
Pfam:NHL
|
559 |
586 |
1.1e-8 |
PFAM |
|
Pfam:NHL
|
601 |
628 |
2.1e-7 |
PFAM |
|
Pfam:NHL
|
648 |
675 |
5.8e-10 |
PFAM |
|
Pfam:NHL
|
695 |
722 |
3.5e-12 |
PFAM |
|
Pfam:NHL
|
739 |
766 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065380
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
|
BBC
|
161 |
287 |
1.7e-38 |
SMART |
|
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
|
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
|
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107691
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
|
BBC
|
161 |
287 |
1.7e-38 |
SMART |
|
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
|
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
|
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107692
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
|
BBC
|
161 |
287 |
1.7e-38 |
SMART |
|
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
|
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
|
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107693
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
|
BBC
|
161 |
287 |
1.7e-38 |
SMART |
|
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
|
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
|
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107695
AA Change: L103P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: L103P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
40 |
80 |
3.5e-9 |
SMART |
|
BBOX
|
130 |
171 |
3.52e-14 |
SMART |
|
BBC
|
178 |
304 |
1.7e-38 |
SMART |
|
IG_FLMN
|
341 |
441 |
2.41e-30 |
SMART |
|
Pfam:NHL
|
503 |
530 |
9.1e-8 |
PFAM |
|
Pfam:NHL
|
550 |
577 |
7.5e-8 |
PFAM |
|
Pfam:NHL
|
592 |
619 |
1.2e-6 |
PFAM |
|
Pfam:NHL
|
639 |
666 |
6.3e-9 |
PFAM |
|
Pfam:NHL
|
686 |
713 |
4.7e-12 |
PFAM |
|
Pfam:NHL
|
730 |
757 |
5.8e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122849
AA Change: L104P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120981
Gene: ENSMUSG00000027993
AA Change: L104P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
41 |
81 |
3.5e-9 |
SMART |
|
BBOX
|
131 |
172 |
3.52e-14 |
SMART |
|
Blast:BBC
|
179 |
213 |
3e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132283
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118888
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
|
Blast:BBC
|
161 |
191 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147901
AA Change: L86P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121055
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154152
|
| SMART Domains |
Protein: ENSMUSP00000115914
Gene: ENSMUSG00000027993
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
39 |
70 |
9.3e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.7317 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (71/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit tremors, ataxia and seizures associated with neurodegeneration of Purkinje cells, deep cerebellar nuclei and retinal ganglion cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,553 (GRCm39) |
D84V |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,218,567 (GRCm39) |
S272T |
possibly damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,847 (GRCm39) |
N49D |
possibly damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,227,212 (GRCm39) |
Y328F |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,680,895 (GRCm39) |
E678D |
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,267,268 (GRCm39) |
V583I |
probably damaging |
Het |
| Bdkrb1 |
T |
A |
12: 105,570,985 (GRCm39) |
S184T |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,387,842 (GRCm39) |
F745S |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,671,673 (GRCm39) |
V597E |
possibly damaging |
Het |
| Casp3 |
T |
A |
8: 47,082,761 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,316,629 (GRCm39) |
V340A |
probably benign |
Het |
| Cdkl3 |
G |
T |
11: 51,917,677 (GRCm39) |
V325L |
probably benign |
Het |
| Clec4n |
T |
A |
6: 123,223,463 (GRCm39) |
N153K |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,322,492 (GRCm39) |
V83I |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,854,659 (GRCm39) |
L14F |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,559,404 (GRCm39) |
Y519C |
probably damaging |
Het |
| Dhrs7 |
T |
G |
12: 72,699,040 (GRCm39) |
K314T |
possibly damaging |
Het |
| Dnaaf9 |
T |
A |
2: 130,652,837 (GRCm39) |
I42L |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,873,405 (GRCm39) |
K2542N |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,049,591 (GRCm39) |
V731E |
probably benign |
Het |
| Dpy19l1 |
T |
A |
9: 24,334,455 (GRCm39) |
H571L |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,159,890 (GRCm39) |
I106N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,281,889 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,799 (GRCm39) |
Y70C |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,227,793 (GRCm39) |
F344S |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,337,482 (GRCm39) |
R612Q |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,874,787 (GRCm39) |
H850R |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,004,604 (GRCm39) |
C484R |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,538 (GRCm39) |
I449T |
probably damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,519 (GRCm39) |
|
probably benign |
Het |
| Iigp1c |
T |
A |
18: 60,378,571 (GRCm39) |
H35Q |
probably benign |
Het |
| Itga11 |
C |
T |
9: 62,634,979 (GRCm39) |
L86F |
probably damaging |
Het |
| Lamc2 |
C |
T |
1: 153,017,511 (GRCm39) |
R492H |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,486,580 (GRCm39) |
V325A |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,710,526 (GRCm39) |
I47F |
probably benign |
Het |
| Nek9 |
T |
A |
12: 85,367,481 (GRCm39) |
|
probably benign |
Het |
| Nelfb |
T |
A |
2: 25,096,323 (GRCm39) |
N262I |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,799,523 (GRCm39) |
D942G |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,353,951 (GRCm39) |
P1729S |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,067,807 (GRCm39) |
T468A |
possibly damaging |
Het |
| Nrm |
G |
A |
17: 36,175,109 (GRCm39) |
V146I |
probably benign |
Het |
| Or8h9 |
C |
A |
2: 86,789,077 (GRCm39) |
A242S |
possibly damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,618 (GRCm39) |
E42G |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,726,694 (GRCm39) |
A2271T |
probably damaging |
Het |
| Pofut2 |
A |
G |
10: 77,096,428 (GRCm39) |
N51S |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,722,103 (GRCm39) |
E273G |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,767,723 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,438,666 (GRCm39) |
I60V |
probably benign |
Het |
| Pygo2 |
T |
A |
3: 89,340,455 (GRCm39) |
N284K |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,741,945 (GRCm39) |
C1368Y |
probably damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,742 (GRCm39) |
G198E |
probably benign |
Het |
| Reln |
T |
C |
5: 22,147,625 (GRCm39) |
I2442V |
probably benign |
Het |
| Rmi1 |
T |
C |
13: 58,555,772 (GRCm39) |
V7A |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,884 (GRCm39) |
L538P |
probably benign |
Het |
| Rsph4a |
T |
G |
10: 33,790,539 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
T |
2: 27,105,094 (GRCm39) |
D676E |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,914 (GRCm39) |
M892V |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,188,529 (GRCm39) |
F80S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,699,554 (GRCm39) |
S194* |
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,339,686 (GRCm39) |
F86L |
probably damaging |
Het |
| Smc3 |
G |
A |
19: 53,627,845 (GRCm39) |
D875N |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,636,786 (GRCm39) |
E575K |
possibly damaging |
Het |
| Spns2 |
A |
G |
11: 72,349,866 (GRCm39) |
L196P |
possibly damaging |
Het |
| Taf8 |
A |
G |
17: 47,801,201 (GRCm39) |
S261P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,738,138 (GRCm39) |
V4134F |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,089,124 (GRCm39) |
T360A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,950,375 (GRCm39) |
C935S |
probably damaging |
Het |
| Vps37d |
T |
A |
5: 135,102,831 (GRCm39) |
M134L |
probably benign |
Het |
| Vwa2 |
T |
G |
19: 56,894,010 (GRCm39) |
V329G |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,349 (GRCm39) |
R666G |
probably benign |
Het |
|
| Other mutations in Trim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Trim2
|
APN |
3 |
84,115,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01658:Trim2
|
APN |
3 |
84,117,592 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02943:Trim2
|
APN |
3 |
84,085,483 (GRCm39) |
missense |
probably benign |
0.45 |
|
PIT4142001:Trim2
|
UTSW |
3 |
84,098,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0149:Trim2
|
UTSW |
3 |
84,098,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Trim2
|
UTSW |
3 |
84,117,476 (GRCm39) |
splice site |
probably benign |
|
|
R0361:Trim2
|
UTSW |
3 |
84,098,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Trim2
|
UTSW |
3 |
84,074,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Trim2
|
UTSW |
3 |
84,074,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1756:Trim2
|
UTSW |
3 |
84,098,107 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1938:Trim2
|
UTSW |
3 |
84,085,099 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2192:Trim2
|
UTSW |
3 |
84,098,225 (GRCm39) |
nonsense |
probably null |
|
|
R3696:Trim2
|
UTSW |
3 |
84,098,158 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4981:Trim2
|
UTSW |
3 |
84,085,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Trim2
|
UTSW |
3 |
84,074,960 (GRCm39) |
missense |
probably null |
0.60 |
|
R5735:Trim2
|
UTSW |
3 |
84,075,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Trim2
|
UTSW |
3 |
84,099,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7297:Trim2
|
UTSW |
3 |
84,117,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Trim2
|
UTSW |
3 |
84,098,213 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7853:Trim2
|
UTSW |
3 |
84,212,537 (GRCm39) |
splice site |
probably benign |
|
|
R7993:Trim2
|
UTSW |
3 |
84,098,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8205:Trim2
|
UTSW |
3 |
84,100,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Trim2
|
UTSW |
3 |
84,115,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Trim2
|
UTSW |
3 |
84,080,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Trim2
|
UTSW |
3 |
84,072,480 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAATCTCTGAGGTATCCAAAGCC -3'
(R):5'- CGTTGTCAGCACATCACTGATG -3'
Sequencing Primer
(F):5'- TGAGGTATCCAAAGCCCTCCC -3'
(R):5'- GTTGTCAGCACATCACTGATGAGAAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation