Incidental Mutation 'R7993:Trim2'
ID 651849
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 046034-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R7993 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 84067746-84214184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84098026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 434 (Y434C)
Ref Sequence ENSEMBL: ENSMUSP00000049902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054990] [ENSMUST00000065380] [ENSMUST00000107691] [ENSMUST00000107692] [ENSMUST00000107693] [ENSMUST00000107695] [ENSMUST00000122849] [ENSMUST00000132283] [ENSMUST00000147901]
AlphaFold Q9ESN6
Predicted Effect probably damaging
Transcript: ENSMUST00000054990
AA Change: Y434C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: Y434C

DomainStartEndE-ValueType
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: Y408C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: Y408C

DomainStartEndE-ValueType
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: Y408C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: Y408C

DomainStartEndE-ValueType
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: Y408C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: Y408C

DomainStartEndE-ValueType
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: Y408C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: Y408C

DomainStartEndE-ValueType
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: Y425C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: Y425C

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000122849
SMART Domains Protein: ENSMUSP00000120981
Gene: ENSMUSG00000027993

DomainStartEndE-ValueType
RING 41 81 3.5e-9 SMART
BBOX 131 172 3.52e-14 SMART
Blast:BBC 179 213 3e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000132283
SMART Domains Protein: ENSMUSP00000118888
Gene: ENSMUSG00000027993

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
BBOX 113 154 3.52e-14 SMART
Blast:BBC 161 191 2e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000147901
SMART Domains Protein: ENSMUSP00000121055
Gene: ENSMUSG00000027993

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,803,231 (GRCm39) V689D possibly damaging Het
Adamts17 T C 7: 66,499,612 (GRCm39) V53A possibly damaging Het
Adcy9 T C 16: 4,235,866 (GRCm39) N515S probably damaging Het
Aoc1l3 T A 6: 48,964,542 (GRCm39) N183K possibly damaging Het
Atp1a2 A G 1: 172,118,878 (GRCm39) V88A possibly damaging Het
Atp1a3 T C 7: 24,700,406 (GRCm39) probably null Het
Baz2a T C 10: 127,961,491 (GRCm39) F1706L probably benign Het
Cacnb2 A C 2: 14,968,731 (GRCm39) N199T probably benign Het
Caskin1 T A 17: 24,718,279 (GRCm39) Y296* probably null Het
Cemip C A 7: 83,613,383 (GRCm39) G605V probably damaging Het
Ciart T A 3: 95,786,206 (GRCm39) K290* probably null Het
Cideb G T 14: 55,995,899 (GRCm39) probably benign Het
Copg2 A T 6: 30,793,097 (GRCm39) Y413N probably damaging Het
Csrp1 T A 1: 135,674,453 (GRCm39) probably null Het
Cyp2j8 C T 4: 96,335,456 (GRCm39) probably null Het
Dcbld1 T A 10: 52,137,884 (GRCm39) Y49* probably null Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Exoc2 A G 13: 31,090,713 (GRCm39) probably null Het
Fcho2 A T 13: 98,888,524 (GRCm39) probably null Het
Foxd3 C T 4: 99,544,841 (GRCm39) probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gipc3 T C 10: 81,173,805 (GRCm39) D269G probably damaging Het
Gm4861 G A 3: 137,256,417 (GRCm39) T63M probably damaging Het
Hmga1b C A 11: 120,653,833 (GRCm39) A40E probably damaging Het
Hydin T A 8: 111,306,264 (GRCm39) M3889K probably benign Het
Inhca T A 9: 103,140,332 (GRCm39) K462N probably benign Het
Klk14 T A 7: 43,344,367 (GRCm39) M226K probably benign Het
Liph T G 16: 21,777,562 (GRCm39) M413L probably benign Het
Lrrc37a T C 11: 103,348,787 (GRCm39) D2636G unknown Het
Lrrk1 G A 7: 65,912,202 (GRCm39) T1786M probably benign Het
Map1a A G 2: 121,135,057 (GRCm39) S1958G possibly damaging Het
Msto1 A G 3: 88,817,481 (GRCm39) F484S probably benign Het
Muc2 C T 7: 141,308,173 (GRCm39) H890Y Het
Nectin3 T C 16: 46,279,184 (GRCm39) I265V probably benign Het
Nectin4 C T 1: 171,211,322 (GRCm39) T282I probably damaging Het
Nfat5 T A 8: 108,082,134 (GRCm39) probably null Het
Nsmaf T C 4: 6,398,647 (GRCm39) D819G probably benign Het
Or8b8 A T 9: 37,808,633 (GRCm39) probably benign Het
Pcdhb1 A T 18: 37,400,044 (GRCm39) D665V probably damaging Het
Pkd1l1 T C 11: 8,895,262 (GRCm39) D616G Het
Plppr2 A T 9: 21,858,258 (GRCm39) H286L probably damaging Het
Polrmt T C 10: 79,572,085 (GRCm39) T1203A probably damaging Het
Ppm1d T A 11: 85,217,777 (GRCm39) V180E probably damaging Het
Ppp1r18 T A 17: 36,184,718 (GRCm39) I551N probably benign Het
Psg28 C T 7: 18,160,401 (GRCm39) C265Y possibly damaging Het
Psmc1 A G 12: 100,081,824 (GRCm39) D142G probably benign Het
Rabgap1l G T 1: 160,528,424 (GRCm39) A394E probably damaging Het
Rbm48 G A 5: 3,640,470 (GRCm39) P303L probably benign Het
Rnf167 T C 11: 70,540,821 (GRCm39) V185A probably benign Het
Ros1 T A 10: 51,999,443 (GRCm39) Q1169L probably benign Het
Rrp1b A G 17: 32,277,541 (GRCm39) D607G probably damaging Het
Scamp1 A G 13: 94,366,294 (GRCm39) Y134H probably damaging Het
Scfd1 G A 12: 51,492,490 (GRCm39) E600K probably damaging Het
Scn3b A G 9: 40,193,840 (GRCm39) E189G possibly damaging Het
Scn4b G T 9: 45,059,007 (GRCm39) V93L probably benign Het
Serpina3i A T 12: 104,231,407 (GRCm39) T15S possibly damaging Het
Slc2a13 A T 15: 91,296,356 (GRCm39) C319* probably null Het
Tdrd1 A G 19: 56,854,437 (GRCm39) probably null Het
Tep1 T A 14: 51,067,710 (GRCm39) I2169F probably benign Het
Tm4sf19 A G 16: 32,226,458 (GRCm39) D124G possibly damaging Het
Usp34 T A 11: 23,327,622 (GRCm39) S1056T Het
Vmn1r230 T A 17: 21,067,312 (GRCm39) M167K probably benign Het
Vmn2r14 T A 5: 109,363,862 (GRCm39) M685L probably benign Het
Zfhx4 T A 3: 5,478,047 (GRCm39) V3554D probably damaging Het
Zfp1010 C T 2: 176,957,015 (GRCm39) G161D probably damaging Het
Zfp458 A G 13: 67,405,234 (GRCm39) S402P probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zmat5 G A 11: 4,672,379 (GRCm39) probably benign Het
Znfx1 C A 2: 166,897,857 (GRCm39) E356* probably null Het
Zswim5 A G 4: 116,808,291 (GRCm39) T292A probably benign Het
Other mutations in Trim2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTCGGAAGATCAGGTCGTC -3'
(R):5'- GCCCATGTCCGTTACTATAACC -3'

Sequencing Primer
(F):5'- CGTCCTCGATGGGGTTCTC -3'
(R):5'- TGTCCGTTACTATAACCACCAAGG -3'
Posted On 2020-09-15