Incidental Mutation 'R2192:Trim2'
ID 238181
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 040194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R2192 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 84067746-84214184 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 84098225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 359 (Q359*)
Ref Sequence ENSEMBL: ENSMUSP00000103323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054990] [ENSMUST00000065380] [ENSMUST00000107691] [ENSMUST00000107692] [ENSMUST00000107693] [ENSMUST00000107695] [ENSMUST00000147901] [ENSMUST00000132283] [ENSMUST00000122849]
AlphaFold Q9ESN6
Predicted Effect probably null
Transcript: ENSMUST00000054990
AA Change: Q368*
SMART Domains Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: Q368*

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 null
Transcript: ENSMUST00000065380
AA Change: Q342*
SMART Domains Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: Q342*

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 null
Transcript: ENSMUST00000107691
AA Change: Q342*
SMART Domains Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: Q342*

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 null
Transcript: ENSMUST00000107692
AA Change: Q342*
SMART Domains Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: Q342*

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 null
Transcript: ENSMUST00000107693
AA Change: Q342*
SMART Domains Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: Q342*

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 null
Transcript: ENSMUST00000107695
AA Change: Q359*
SMART Domains Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: Q359*

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 noncoding transcript
Transcript: ENSMUST00000140568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137596
Predicted Effect probably benign
Transcript: ENSMUST00000147901
SMART Domains Protein: ENSMUSP00000121055
Gene: ENSMUSG00000027993

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,403,289 (GRCm39) M267K probably damaging Het
Aen T C 7: 78,555,793 (GRCm39) probably null Het
Ano2 A G 6: 125,992,502 (GRCm39) D825G probably damaging Het
Bdh2 T C 3: 135,001,025 (GRCm39) S142P probably damaging Het
Celsr1 A G 15: 85,800,924 (GRCm39) L2507P possibly damaging Het
Ces3a T C 8: 105,782,212 (GRCm39) F308S probably benign Het
Cfap47 C T X: 78,454,218 (GRCm39) R1646Q probably damaging Het
Chd4 T A 6: 125,082,320 (GRCm39) M603K probably damaging Het
Cit T C 5: 116,106,068 (GRCm39) V984A probably benign Het
Clstn3 A T 6: 124,436,166 (GRCm39) D194E probably damaging Het
Ctdp1 T C 18: 80,492,696 (GRCm39) R600G probably benign Het
Ctnnd1 C T 2: 84,439,907 (GRCm39) G801D probably damaging Het
Dgkg A G 16: 22,407,049 (GRCm39) F179L probably damaging Het
Dlg3 G A X: 99,817,827 (GRCm39) D379N probably damaging Het
Drd2 G T 9: 49,314,571 (GRCm39) R267S probably benign Het
Dsg1b T C 18: 20,542,675 (GRCm39) *1061Q probably null Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Edc3 T C 9: 57,620,826 (GRCm39) V49A probably damaging Het
Ern1 G A 11: 106,300,750 (GRCm39) T548I probably benign Het
Fam186a T C 15: 99,838,192 (GRCm39) D2684G possibly damaging Het
Fam20a A G 11: 109,565,449 (GRCm39) M454T probably benign Het
Fbp2 A G 13: 63,006,056 (GRCm39) M19T possibly damaging Het
Frmd4b A T 6: 97,464,577 (GRCm39) C47S probably damaging Het
Gtf2h1 T A 7: 46,464,747 (GRCm39) I388N possibly damaging Het
Hectd4 T C 5: 121,453,206 (GRCm39) V571A possibly damaging Het
Helz2 T A 2: 180,870,841 (GRCm39) K2832* probably null Het
Herc1 T A 9: 66,372,688 (GRCm39) D3081E probably damaging Het
Hmcn1 A T 1: 150,591,566 (GRCm39) S1878T probably damaging Het
Iars1 A G 13: 49,841,605 (GRCm39) probably null Het
Il17rd A T 14: 26,816,835 (GRCm39) K180M probably damaging Het
Ints6l T A X: 55,550,110 (GRCm39) H678Q probably benign Het
Khdrbs1 A G 4: 129,613,830 (GRCm39) probably null Het
Lce3a A C 3: 92,832,837 (GRCm39) S88A unknown Het
Lgals12 C T 19: 7,578,606 (GRCm39) probably null Het
Lnpk T C 2: 74,399,373 (GRCm39) T57A probably benign Het
Lrp2bp C T 8: 46,466,206 (GRCm39) T105I probably benign Het
Lrrc4c C G 2: 97,459,657 (GRCm39) N94K possibly damaging Het
Mag A T 7: 30,600,066 (GRCm39) Y571* probably null Het
Mbd1 T A 18: 74,410,449 (GRCm39) D583E probably damaging Het
Mill1 T A 7: 17,998,544 (GRCm39) Y251* probably null Het
Mllt10 T C 2: 18,211,871 (GRCm39) I928T probably benign Het
Ms4a18 T C 19: 10,991,029 (GRCm39) T22A probably benign Het
Mtmr14 T C 6: 113,257,700 (GRCm39) F250L probably damaging Het
Mtmr3 A T 11: 4,449,032 (GRCm39) W244R probably damaging Het
Myorg A G 4: 41,497,704 (GRCm39) I642T probably damaging Het
Nat10 C A 2: 103,556,522 (GRCm39) E885D probably benign Het
Nbeal1 T A 1: 60,321,054 (GRCm39) L2055H probably damaging Het
Necab3 T A 2: 154,388,999 (GRCm39) I192F possibly damaging Het
Nedd4 T A 9: 72,650,000 (GRCm39) N783K probably damaging Het
Nf2 A T 11: 4,749,899 (GRCm39) W61R probably damaging Het
Nox4 T A 7: 87,023,588 (GRCm39) F491L probably benign Het
Omt2b G A 9: 78,235,457 (GRCm39) probably benign Het
Or4c125 A T 2: 89,170,009 (GRCm39) Y212* probably null Het
Or4c127 T A 2: 89,832,774 (GRCm39) I8N probably damaging Het
Or8i2 A G 2: 86,852,855 (GRCm39) V11A probably benign Het
Osbpl5 A T 7: 143,247,596 (GRCm39) Y723* probably null Het
Otop2 T C 11: 115,217,757 (GRCm39) S198P possibly damaging Het
Pgam5 T G 5: 110,413,785 (GRCm39) H126P probably damaging Het
Phip A T 9: 82,753,868 (GRCm39) N1625K probably damaging Het
Phospho2 T A 2: 69,626,451 (GRCm39) Y202* probably null Het
Pkd1l3 T A 8: 110,347,156 (GRCm39) H176Q unknown Het
Plxdc2 A G 2: 16,570,147 (GRCm39) R109G probably damaging Het
Prorsd1 T C 11: 29,463,592 (GRCm39) K57E probably benign Het
Rnf150 A T 8: 83,591,020 (GRCm39) R128W probably damaging Het
Samm50 G A 15: 84,084,625 (GRCm39) probably null Het
Skint6 A T 4: 112,722,909 (GRCm39) Y889* probably null Het
Slc35b1 T C 11: 95,276,640 (GRCm39) Y40H probably damaging Het
Speg A G 1: 75,394,371 (GRCm39) H1722R probably damaging Het
Suz12 T C 11: 79,913,024 (GRCm39) L356P probably damaging Het
Tln2 T G 9: 67,262,503 (GRCm39) I585L probably damaging Het
Ttc28 T C 5: 111,371,362 (GRCm39) Y635H probably damaging Het
Ttn C T 2: 76,543,549 (GRCm39) E33146K probably damaging Het
Vcp G T 4: 42,982,547 (GRCm39) T715K probably benign Het
Vmn1r230 T A 17: 21,067,355 (GRCm39) N181K probably benign Het
Vmn2r17 T A 5: 109,582,144 (GRCm39) M511K possibly damaging Het
Wdfy3 C T 5: 102,055,408 (GRCm39) R1554Q possibly damaging Het
Zfp112 A T 7: 23,824,863 (GRCm39) Q277L probably damaging Het
Zfp850 T C 7: 27,684,620 (GRCm39) E42G probably damaging Het
Zfp976 G A 7: 42,262,695 (GRCm39) P381S probably damaging Het
Zzef1 A T 11: 72,800,982 (GRCm39) probably null 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
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'- CCTCCTTCTGCACAGTATACAAG -3'
(R):5'- GCATTAAGAGCTGCAGCAAC -3'

Sequencing Primer
(F):5'- TACAAGAACTCGTAGGTGCCGTTC -3'
(R):5'- TTAAGAGCTGCAGCAACTTCACG -3'
Posted On 2014-10-02