Incidental Mutation 'R7228:Trim2'
ID 562274
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 045300-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R7228 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 84067746-84214184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84099488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 228 (D228G)
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 benign
Transcript: ENSMUST00000054990
AA Change: D228G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: D228G

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
AA Change: D202G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: D202G

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
AA Change: D202G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: D202G

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
AA Change: D202G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: D202G

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
AA Change: D202G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: D202G

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
AA Change: D219G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: D219G

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: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,653 (GRCm39) F2467I probably benign Het
Acod1 A G 14: 103,286,765 (GRCm39) T23A probably benign Het
Adam2 T A 14: 66,291,361 (GRCm39) K306* probably null Het
Adcy10 A C 1: 165,337,841 (GRCm39) I152L probably damaging Het
Amigo1 T C 3: 108,094,546 (GRCm39) L15P probably benign Het
Aqp2 A G 15: 99,480,005 (GRCm39) N156S probably benign Het
AU041133 A G 10: 81,987,105 (GRCm39) K253E possibly damaging Het
Cacna1s A G 1: 135,998,797 (GRCm39) T231A possibly damaging Het
Carf A T 1: 60,148,553 (GRCm39) N83I probably damaging Het
Ccdc121rt1 T C 1: 181,338,532 (GRCm39) K140R probably benign Het
Cdc42bpb C T 12: 111,271,527 (GRCm39) V1111M possibly damaging Het
Cep78 A G 19: 15,946,561 (GRCm39) S424P probably benign Het
Cfap74 G A 4: 155,549,507 (GRCm39) V123M unknown Het
Crot T A 5: 9,026,051 (GRCm39) N312I probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Cyp4f39 A G 17: 32,710,803 (GRCm39) D454G probably damaging Het
Dnaja4 A T 9: 54,621,569 (GRCm39) H298L possibly damaging Het
Eif2ak4 C T 2: 118,287,638 (GRCm39) T1081M probably damaging Het
Eif3j2 T C 18: 43,610,574 (GRCm39) K80E probably damaging Het
Elp4 T A 2: 105,622,647 (GRCm39) I351F probably damaging Het
Fbxw26 C G 9: 109,554,012 (GRCm39) G209A possibly damaging Het
Fsip2 T A 2: 82,822,651 (GRCm39) V6128D possibly damaging Het
Gli3 A G 13: 15,899,087 (GRCm39) T825A probably benign Het
Gm2042 A G 12: 87,924,719 (GRCm39) E60G probably benign Het
Gm26566 G T 4: 88,640,542 (GRCm39) R111L unknown Het
Gm3138 C A 14: 15,632,269 (GRCm39) H147Q probably damaging Het
Gucy1b1 T A 3: 81,940,581 (GRCm39) N615I unknown Het
Ighv14-1 A T 12: 113,895,981 (GRCm39) F8I not run Het
Kcnh8 C T 17: 53,263,744 (GRCm39) T747I probably benign Het
Kctd1 T A 18: 15,195,469 (GRCm39) S385C possibly damaging Het
Lmo7 T A 14: 102,133,971 (GRCm39) M672K probably damaging Het
Lrrc69 T A 4: 14,775,027 (GRCm39) K80N probably damaging Het
Map2k5 C T 9: 63,265,304 (GRCm39) D75N probably damaging Het
Matr3 T C 18: 35,695,537 (GRCm39) V4A unknown Het
Megf10 T C 18: 57,322,661 (GRCm39) C69R probably damaging Het
Mettl1 A G 10: 126,881,152 (GRCm39) E221G probably benign Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mlh3 A T 12: 85,282,430 (GRCm39) L1401Q probably benign Het
Nacad T C 11: 6,548,412 (GRCm39) I1412V probably benign Het
Nkain4 A T 2: 180,596,362 (GRCm39) probably null Het
Notch2 T A 3: 98,044,633 (GRCm39) C1518* probably null Het
Npw A G 17: 24,877,065 (GRCm39) V112A probably benign Het
Or10a5 A T 7: 106,636,307 (GRCm39) H315L probably benign Het
Or2v1 T A 11: 49,025,706 (GRCm39) M229K possibly damaging Het
Pdzd2 T C 15: 12,373,059 (GRCm39) T2359A probably benign Het
Pdzd2 T A 15: 12,458,231 (GRCm39) K37* probably null Het
Phkb T G 8: 86,569,636 (GRCm39) probably benign Het
Pou2af2 T C 9: 51,202,956 (GRCm39) D66G probably damaging Het
Prrc2b C A 2: 32,104,318 (GRCm39) Y1265* probably null Het
Rab31 T A 17: 66,024,548 (GRCm39) M44L probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Rapgef2 T C 3: 78,976,525 (GRCm39) D1279G probably benign Het
Rbm46 T C 3: 82,749,840 (GRCm39) D468G probably benign Het
Ryr3 T C 2: 112,692,197 (GRCm39) E1059G probably damaging Het
Sez6l2 T C 7: 126,552,897 (GRCm39) L221P probably damaging Het
Slit3 T A 11: 35,490,245 (GRCm39) V361E probably damaging Het
Soat1 G A 1: 156,261,808 (GRCm39) S400F probably damaging Het
Spp1 T C 5: 104,588,311 (GRCm39) S238P probably damaging Het
Tdpoz8 T A 3: 92,980,993 (GRCm39) C4S possibly damaging Het
Tfap2c T C 2: 172,393,492 (GRCm39) S136P probably benign Het
Tgfbr2 T C 9: 115,939,011 (GRCm39) E297G probably damaging Het
Wdr82 C A 9: 106,053,871 (GRCm39) A74E probably benign Het
Zfp451 T C 1: 33,842,475 (GRCm39) T136A unknown 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
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'- GCCACTGTTAGAACGCAGTAAG -3'
(R):5'- TTTTAAAGGTGATGCAAGCAGC -3'

Sequencing Primer
(F):5'- CTGTTAGAACGCAGTAAGCAGGC -3'
(R):5'- CAGCATAGTAAAAAGCGCTTGC -3'
Posted On 2019-06-26