Incidental Mutation 'R8516:Trim2'
ID |
656128 |
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 |
067848-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R8516 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84115627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 102
(A102T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049902
(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: A102T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049902 Gene: ENSMUSG00000027993 AA Change: A102T
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: A76T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000069922 Gene: ENSMUSG00000027993 AA Change: A76T
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: A76T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103319 Gene: ENSMUSG00000027993 AA Change: A76T
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: A76T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103320 Gene: ENSMUSG00000027993 AA Change: A76T
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: A76T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103321 Gene: ENSMUSG00000027993 AA Change: A76T
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: A93T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103323 Gene: ENSMUSG00000027993 AA Change: A93T
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: A94T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120981 Gene: ENSMUSG00000027993 AA Change: A94T
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: A76T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118888 Gene: ENSMUSG00000027993 AA Change: A76T
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: A76T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121055 Gene: ENSMUSG00000027993 AA Change: A76T
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
A |
T |
9: 4,309,373 (GRCm39) |
S22T |
probably benign |
Het |
Acte1 |
T |
A |
7: 143,451,011 (GRCm39) |
I342N |
probably damaging |
Het |
Actr8 |
G |
T |
14: 29,712,856 (GRCm39) |
A500S |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,260,780 (GRCm39) |
Y1005C |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,763,559 (GRCm39) |
Y884* |
probably null |
Het |
Arhgap28 |
T |
C |
17: 68,180,068 (GRCm39) |
R306G |
probably benign |
Het |
Atp8a2 |
A |
C |
14: 59,928,921 (GRCm39) |
I1044M |
probably benign |
Het |
Bahd1 |
A |
G |
2: 118,747,452 (GRCm39) |
Y357C |
probably benign |
Het |
Btd |
A |
T |
14: 31,388,824 (GRCm39) |
T182S |
probably damaging |
Het |
Casc3 |
C |
T |
11: 98,713,607 (GRCm39) |
R280C |
probably damaging |
Het |
Cisd2 |
T |
C |
3: 135,116,774 (GRCm39) |
T106A |
probably damaging |
Het |
Cldn15 |
G |
T |
5: 137,003,550 (GRCm39) |
C184F |
probably damaging |
Het |
Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
Coprs |
G |
T |
8: 13,935,065 (GRCm39) |
F163L |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,492,761 (GRCm39) |
R2216* |
probably null |
Het |
Defb7 |
A |
T |
8: 19,547,623 (GRCm39) |
I43F |
possibly damaging |
Het |
Dpp8 |
C |
A |
9: 64,985,291 (GRCm39) |
T783K |
probably damaging |
Het |
Eif2s1 |
G |
A |
12: 78,927,936 (GRCm39) |
G204D |
probably damaging |
Het |
Elavl4 |
T |
C |
4: 110,108,576 (GRCm39) |
N56S |
probably damaging |
Het |
Emilin1 |
G |
A |
5: 31,074,515 (GRCm39) |
R252H |
probably damaging |
Het |
Exd1 |
A |
T |
2: 119,350,554 (GRCm39) |
L569Q |
probably damaging |
Het |
Gpn2 |
C |
T |
4: 133,312,142 (GRCm39) |
R125C |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,614,294 (GRCm39) |
E582G |
probably benign |
Het |
Hadha |
A |
T |
5: 30,331,582 (GRCm39) |
V458E |
probably damaging |
Het |
Hap1 |
T |
C |
11: 100,246,893 (GRCm39) |
K4R |
possibly damaging |
Het |
Hectd4 |
A |
T |
5: 121,487,073 (GRCm39) |
H3356L |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,856,318 (GRCm39) |
V3919I |
probably benign |
Het |
Lgr6 |
G |
T |
1: 135,003,021 (GRCm39) |
N76K |
probably damaging |
Het |
Or52w1 |
A |
G |
7: 105,017,976 (GRCm39) |
I148V |
probably benign |
Het |
P4ha3 |
A |
G |
7: 99,963,869 (GRCm39) |
M462V |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,126,084 (GRCm39) |
M773L |
probably benign |
Het |
Peak1 |
T |
C |
9: 56,167,284 (GRCm39) |
S215G |
probably damaging |
Het |
Pgm5 |
T |
A |
19: 24,793,074 (GRCm39) |
M331L |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,658,188 (GRCm39) |
V213A |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,070,764 (GRCm39) |
H1205R |
probably benign |
Het |
Pop4 |
A |
T |
7: 37,966,826 (GRCm39) |
M85K |
probably benign |
Het |
Ppp3ca |
T |
A |
3: 136,583,529 (GRCm39) |
I212N |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,164,441 (GRCm39) |
K714R |
probably benign |
Het |
Psip1 |
C |
T |
4: 83,384,952 (GRCm39) |
G207S |
probably benign |
Het |
Rgs22 |
A |
G |
15: 36,010,481 (GRCm39) |
*1259Q |
probably null |
Het |
Scn1a |
C |
T |
2: 66,156,478 (GRCm39) |
G477D |
possibly damaging |
Het |
Sf3b1 |
T |
C |
1: 55,051,262 (GRCm39) |
E222G |
probably null |
Het |
Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
Spem2 |
T |
C |
11: 69,707,721 (GRCm39) |
R415G |
possibly damaging |
Het |
Tmem167 |
T |
A |
13: 90,246,515 (GRCm39) |
V13E |
probably damaging |
Het |
Trim30b |
A |
G |
7: 104,006,611 (GRCm39) |
S82P |
probably benign |
Het |
Uba6 |
A |
C |
5: 86,275,607 (GRCm39) |
S760R |
possibly damaging |
Het |
Upf2 |
T |
C |
2: 6,023,782 (GRCm39) |
F711L |
unknown |
Het |
Utrn |
T |
A |
10: 12,362,254 (GRCm39) |
D2693V |
probably damaging |
Het |
Vmn1r30 |
T |
G |
6: 58,412,109 (GRCm39) |
Y241S |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,794,875 (GRCm39) |
L598P |
probably damaging |
Het |
Wfdc18 |
T |
A |
11: 83,599,984 (GRCm39) |
F14Y |
probably benign |
Het |
Wnt10b |
A |
T |
15: 98,670,761 (GRCm39) |
C256S |
probably damaging |
Het |
Xrn1 |
T |
A |
9: 95,930,444 (GRCm39) |
Y1554* |
probably null |
Het |
Zc3h12a |
T |
A |
4: 125,013,632 (GRCm39) |
S411C |
probably damaging |
Het |
Zfp112 |
G |
A |
7: 23,823,389 (GRCm39) |
G63E |
probably benign |
Het |
Zfp786 |
A |
T |
6: 47,797,477 (GRCm39) |
L487Q |
probably damaging |
Het |
Zfp953 |
T |
A |
13: 67,493,419 (GRCm39) |
Y75F |
possibly damaging |
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 |
R2046:Trim2
|
UTSW |
3 |
84,115,596 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GAAGAATCTCTGAGGTATCCAAAGC -3'
(R):5'- CGTTGTCAGCACATCACTGATG -3'
Sequencing Primer
(F):5'- TCTGAGGTATCCAAAGCCCTCC -3'
(R):5'- GTTGTCAGCACATCACTGATGAGAAC -3'
|
Posted On |
2020-10-20 |