Incidental Mutation 'R0158:Trim2'
ID 22956
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 038438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R0158 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 84067746-84214184 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 84117476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054990] [ENSMUST00000065380] [ENSMUST00000107691] [ENSMUST00000107692] [ENSMUST00000107693] [ENSMUST00000107695] [ENSMUST00000122849] [ENSMUST00000147901] [ENSMUST00000132283] [ENSMUST00000154152]
AlphaFold Q9ESN6
Predicted Effect probably benign
Transcript: ENSMUST00000054990
SMART Domains Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993

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 benign
Transcript: ENSMUST00000065380
SMART Domains Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993

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 benign
Transcript: ENSMUST00000107691
SMART Domains Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993

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 benign
Transcript: ENSMUST00000107692
SMART Domains Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993

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 benign
Transcript: ENSMUST00000107693
SMART Domains Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993

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 benign
Transcript: ENSMUST00000107695
SMART Domains Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993

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 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 noncoding transcript
Transcript: ENSMUST00000128574
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: ENSMUST00000154152
SMART Domains Protein: ENSMUSP00000115914
Gene: ENSMUSG00000027993

DomainStartEndE-ValueType
RING 39 70 9.3e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140856
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 93% (79/85)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,316 (GRCm39) R437C probably damaging Het
Abhd3 A G 18: 10,647,840 (GRCm39) Y315H possibly damaging Het
Adam19 C T 11: 46,033,861 (GRCm39) P891L probably damaging Het
Ampd1 T A 3: 102,999,046 (GRCm39) Y400* probably null Het
Ap1g1 T C 8: 110,582,267 (GRCm39) S724P probably benign Het
Bst2 T A 8: 71,989,861 (GRCm39) T71S possibly damaging Het
C3 A G 17: 57,531,851 (GRCm39) probably null Het
Cacna2d1 C A 5: 16,566,815 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,213,709 (GRCm39) H43Y possibly damaging Het
Ccdc71 T G 9: 108,341,336 (GRCm39) V383G probably benign Het
Cd109 A T 9: 78,596,214 (GRCm39) Q849L possibly damaging Het
Cdkn2a A T 4: 89,195,004 (GRCm39) H115Q possibly damaging Het
Ces1e T C 8: 93,946,057 (GRCm39) E161G probably benign Het
Cggbp1 C T 16: 64,676,201 (GRCm39) S89L possibly damaging Het
Crocc A T 4: 140,769,553 (GRCm39) probably benign Het
Cspg4b T A 13: 113,505,687 (GRCm39) L2272* probably null Het
Eef1akmt3 G A 10: 126,869,142 (GRCm39) Q111* probably null Het
Exoc7 T C 11: 116,186,118 (GRCm39) N361S probably benign Het
Fat2 G T 11: 55,187,011 (GRCm39) S1278R probably benign Het
Fbxo42 A G 4: 140,927,640 (GRCm39) N640S probably benign Het
Fbxw25 A G 9: 109,483,720 (GRCm39) V164A possibly damaging Het
Fcgbpl1 A G 7: 27,854,917 (GRCm39) I1848V probably damaging Het
Foxs1 T C 2: 152,774,330 (GRCm39) E241G probably damaging Het
Fras1 A T 5: 96,924,493 (GRCm39) I3645F possibly damaging Het
Gm14496 T A 2: 181,639,206 (GRCm39) V432E probably benign Het
H3c2 T A 13: 23,936,693 (GRCm39) C111S probably damaging Het
Herc1 T A 9: 66,403,203 (GRCm39) L4374* probably null Het
Ift122 T C 6: 115,901,445 (GRCm39) probably benign Het
Itgav C A 2: 83,622,381 (GRCm39) N654K probably benign Het
Itih5 T C 2: 10,239,803 (GRCm39) probably benign Het
Jak2 C A 19: 29,289,157 (GRCm39) T1103K probably benign Het
Kcnc4 C A 3: 107,365,920 (GRCm39) C96F probably benign Het
Med13l C A 5: 118,880,514 (GRCm39) S1202Y unknown Het
Mefv T C 16: 3,533,320 (GRCm39) E317G possibly damaging Het
Ncoa2 T C 1: 13,222,608 (GRCm39) T1226A probably benign Het
Nktr C T 9: 121,579,757 (GRCm39) probably benign Het
Nudt5 G A 2: 5,867,114 (GRCm39) V61M probably damaging Het
Or51a39 C T 7: 102,363,162 (GRCm39) A153T probably benign Het
Pakap A G 4: 57,709,649 (GRCm39) D198G possibly damaging Het
Pcdhb2 A C 18: 37,430,283 (GRCm39) Y752S probably damaging Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pnp2 G A 14: 51,201,761 (GRCm39) R249H probably damaging Het
Rgs3 A T 4: 62,542,121 (GRCm39) I32F probably damaging Het
Rnf139 A G 15: 58,770,727 (GRCm39) T251A probably benign Het
Rnf41 A G 10: 128,274,104 (GRCm39) E252G probably damaging Het
Rxfp2 T A 5: 149,975,093 (GRCm39) F220Y probably benign Het
Sdcbp A G 4: 6,379,042 (GRCm39) D43G possibly damaging Het
Serpina3f A G 12: 104,183,267 (GRCm39) D43G probably damaging Het
Sftpc T C 14: 70,758,887 (GRCm39) K154R probably null Het
Simc1 A G 13: 54,672,530 (GRCm39) T293A probably benign Het
Skint6 A T 4: 113,042,011 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,225,208 (GRCm39) probably benign Het
Spata31e2 T G 1: 26,723,032 (GRCm39) H716P probably damaging Het
Ston2 A T 12: 91,707,376 (GRCm39) I78N probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tent4b G A 8: 88,977,371 (GRCm39) G391D probably damaging Het
Tiam1 C T 16: 89,589,889 (GRCm39) probably benign Het
Tnfsf15 T C 4: 63,648,229 (GRCm39) H137R possibly damaging Het
Tpte G A 8: 22,817,755 (GRCm39) R247H possibly damaging Het
Ulk1 A T 5: 110,936,810 (GRCm39) probably benign Het
Utp4 T G 8: 107,640,018 (GRCm39) H442Q probably null Het
Vmn1r193 T A 13: 22,403,798 (GRCm39) I65F probably damaging Het
Vps54 A T 11: 21,256,962 (GRCm39) Q690L probably damaging Het
Ybx2 T C 11: 69,831,145 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,568,993 (GRCm39) G697D possibly damaging Het
Zfp202 C T 9: 40,120,212 (GRCm39) Q218* probably null Het
Zfp820 G A 17: 22,038,800 (GRCm39) T176I 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
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
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'- ACAGAGAGTAGGAGTCATTCGTCCG -3'
(R):5'- ACCTGTATTTAAAAGGGAAGCGCCG -3'

Sequencing Primer
(F):5'- GACTCTCAACAGTGAGCTAGTCTG -3'
(R):5'- CGGGGATTGGTTTACACACAC -3'
Posted On 2013-04-16