Incidental Mutation 'R4022:Tsen2'
ID 313300
Institutional Source Beutler Lab
Gene Symbol Tsen2
Ensembl Gene ENSMUSG00000042389
Gene Name tRNA splicing endonuclease subunit 2
Synonyms
MMRRC Submission 040956-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R4022 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115521652-115555297 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115524948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 49 (V49E)
Ref Sequence ENSEMBL: ENSMUSP00000145431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040234] [ENSMUST00000130425]
AlphaFold Q6P7W5
Predicted Effect probably damaging
Transcript: ENSMUST00000040234
AA Change: V49E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038211
Gene: ENSMUSG00000042389
AA Change: V49E

DomainStartEndE-ValueType
Blast:HOLI 1 55 2e-23 BLAST
Pfam:tRNA_int_endo_N 258 324 9.9e-16 PFAM
Pfam:tRNA_int_endo 334 426 5.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123359
Predicted Effect probably damaging
Transcript: ENSMUST00000130425
AA Change: V49E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145431
Gene: ENSMUSG00000042389
AA Change: V49E

DomainStartEndE-ValueType
Blast:HOLI 1 55 3e-26 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138200
Meta Mutation Damage Score 0.9205 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,733,812 (GRCm39) Y131F probably damaging Het
Adcy4 C T 14: 56,012,635 (GRCm39) probably null Het
Ago3 T A 4: 126,262,386 (GRCm39) N388I probably benign Het
Arfgef2 G T 2: 166,715,865 (GRCm39) V1385L probably benign Het
Camk2a A T 18: 61,097,000 (GRCm39) K28* probably null Het
Ccdc180 T A 4: 45,904,560 (GRCm39) Y385* probably null Het
Cd209g A T 8: 4,185,955 (GRCm39) Q46L possibly damaging Het
Cdh22 T C 2: 164,999,173 (GRCm39) T220A probably benign Het
Cltc A T 11: 86,611,174 (GRCm39) C562S probably damaging Het
Cyp2c55 T A 19: 39,023,878 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Ddias G T 7: 92,510,686 (GRCm39) D105E possibly damaging Het
Dhx30 T C 9: 109,913,465 (GRCm39) D1223G possibly damaging Het
Dnajb11 A G 16: 22,688,196 (GRCm39) D238G probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Erbb2 T G 11: 98,326,123 (GRCm39) C966W probably benign Het
Exoc1 C T 5: 76,697,417 (GRCm39) T405I possibly damaging Het
Fbxo28 T C 1: 182,157,475 (GRCm39) N108S possibly damaging Het
Fhdc1 T C 3: 84,352,409 (GRCm39) E157G probably benign Het
Gstcd C T 3: 132,787,829 (GRCm39) V290M probably damaging Het
Hps3 A G 3: 20,089,425 (GRCm39) V2A possibly damaging Het
Ilrun T C 17: 28,005,236 (GRCm39) E107G probably damaging Het
Itsn2 G A 12: 4,674,927 (GRCm39) R23H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lax1 C T 1: 133,610,774 (GRCm39) G105S probably benign Het
Lin7c G T 2: 109,726,790 (GRCm39) probably null Het
Lrrn2 T C 1: 132,866,852 (GRCm39) V639A probably benign Het
Luzp1 T C 4: 136,269,504 (GRCm39) S576P probably benign Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mast4 G T 13: 102,990,377 (GRCm39) A48E probably damaging Het
Mat2a G A 6: 72,413,227 (GRCm39) R168C probably damaging Het
Megf8 T C 7: 25,037,200 (GRCm39) V700A probably damaging Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Myh2 G T 11: 67,070,230 (GRCm39) E421* probably null Het
Or12d2 T A 17: 37,625,165 (GRCm39) I37L probably benign Het
Or5k17 T C 16: 58,746,483 (GRCm39) I150M possibly damaging Het
Pecam1 T C 11: 106,545,986 (GRCm39) N693D probably benign Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prune2 A G 19: 16,977,384 (GRCm39) T40A probably damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Reln T C 5: 22,432,628 (GRCm39) Q124R probably benign Het
Rnf17 C T 14: 56,697,458 (GRCm39) H451Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sall3 T A 18: 81,013,055 (GRCm39) E1127V probably benign Het
Sertad3 A G 7: 27,176,120 (GRCm39) N185D probably damaging Het
Sox1 A G 8: 12,446,719 (GRCm39) Y120C probably damaging Het
Spag17 A T 3: 99,956,546 (GRCm39) I881F probably benign Het
Spart G T 3: 55,025,157 (GRCm39) V251L probably damaging Het
Stard9 A G 2: 120,534,636 (GRCm39) E3631G probably benign Het
Syde2 A G 3: 145,721,480 (GRCm39) T848A probably benign Het
Tmem11 T C 11: 60,756,154 (GRCm39) D12G possibly damaging Het
Trim28 T C 7: 12,762,485 (GRCm39) probably benign Het
Tspan1 C T 4: 116,024,232 (GRCm39) M10I probably benign Het
Uncx A T 5: 139,532,444 (GRCm39) T170S probably damaging Het
Usp24 T C 4: 106,236,421 (GRCm39) probably benign Het
Vmn1r84 T C 7: 12,095,857 (GRCm39) I267V probably benign Het
Zfp488 T A 14: 33,693,110 (GRCm39) M18L probably benign Het
Other mutations in Tsen2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Tsen2 APN 6 115,553,945 (GRCm39) missense probably damaging 1.00
IGL01409:Tsen2 APN 6 115,536,555 (GRCm39) missense possibly damaging 0.72
IGL02002:Tsen2 APN 6 115,536,568 (GRCm39) missense probably benign 0.12
IGL03301:Tsen2 APN 6 115,545,732 (GRCm39) missense probably damaging 1.00
FR4304:Tsen2 UTSW 6 115,537,030 (GRCm39) small insertion probably benign
FR4340:Tsen2 UTSW 6 115,537,030 (GRCm39) small insertion probably benign
FR4340:Tsen2 UTSW 6 115,537,027 (GRCm39) small insertion probably benign
FR4342:Tsen2 UTSW 6 115,537,033 (GRCm39) small insertion probably benign
FR4548:Tsen2 UTSW 6 115,537,029 (GRCm39) small insertion probably benign
FR4737:Tsen2 UTSW 6 115,537,038 (GRCm39) small insertion probably benign
FR4976:Tsen2 UTSW 6 115,537,027 (GRCm39) small insertion probably benign
R0141:Tsen2 UTSW 6 115,545,790 (GRCm39) missense probably damaging 0.99
R1165:Tsen2 UTSW 6 115,538,396 (GRCm39) missense probably damaging 1.00
R1528:Tsen2 UTSW 6 115,536,989 (GRCm39) missense probably benign 0.01
R2152:Tsen2 UTSW 6 115,524,936 (GRCm39) missense possibly damaging 0.94
R4246:Tsen2 UTSW 6 115,524,785 (GRCm39) splice site probably benign
R4247:Tsen2 UTSW 6 115,524,785 (GRCm39) splice site probably benign
R4249:Tsen2 UTSW 6 115,524,785 (GRCm39) splice site probably benign
R4774:Tsen2 UTSW 6 115,552,894 (GRCm39) missense possibly damaging 0.92
R5511:Tsen2 UTSW 6 115,538,365 (GRCm39) missense probably damaging 1.00
R5580:Tsen2 UTSW 6 115,554,941 (GRCm39) missense probably damaging 1.00
R5935:Tsen2 UTSW 6 115,536,556 (GRCm39) missense probably damaging 1.00
R6086:Tsen2 UTSW 6 115,537,036 (GRCm39) missense probably benign 0.35
R6457:Tsen2 UTSW 6 115,536,592 (GRCm39) missense probably benign 0.01
R6750:Tsen2 UTSW 6 115,526,881 (GRCm39) missense probably damaging 1.00
R7009:Tsen2 UTSW 6 115,524,933 (GRCm39) missense possibly damaging 0.94
R7438:Tsen2 UTSW 6 115,536,943 (GRCm39) nonsense probably null
R9254:Tsen2 UTSW 6 115,553,864 (GRCm39) missense probably damaging 0.97
RF030:Tsen2 UTSW 6 115,537,028 (GRCm39) small insertion probably benign
RF035:Tsen2 UTSW 6 115,537,028 (GRCm39) small insertion probably benign
RF042:Tsen2 UTSW 6 115,537,028 (GRCm39) small insertion probably benign
RF056:Tsen2 UTSW 6 115,537,025 (GRCm39) small insertion probably benign
Z1176:Tsen2 UTSW 6 115,536,877 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAACCTGGTTCTGATTGTGC -3'
(R):5'- TGGGCATGTCTAGCTCTCAG -3'

Sequencing Primer
(F):5'- CTGATGGTCCGTTTTTACTGAC -3'
(R):5'- CTAGCTCTCAGGCTTACAGTTGAAG -3'
Posted On 2015-04-30