Incidental Mutation 'R3427:Exosc2'
ID 267903
Institutional Source Beutler Lab
Gene Symbol Exosc2
Ensembl Gene ENSMUSG00000039356
Gene Name exosome component 2
Synonyms Rrp4
MMRRC Submission 040645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R3427 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 31560727-31571361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31569900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 237 (L237P)
Ref Sequence ENSEMBL: ENSMUSP00000043519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038474] [ENSMUST00000125883] [ENSMUST00000137156]
AlphaFold Q8VBV3
Predicted Effect probably damaging
Transcript: ENSMUST00000038474
AA Change: L237P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043519
Gene: ENSMUSG00000039356
AA Change: L237P

DomainStartEndE-ValueType
Pfam:ECR1_N 26 63 2.5e-19 PFAM
S1 79 159 8.96e-2 SMART
Pfam:KH_6 169 210 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125883
SMART Domains Protein: ENSMUSP00000141404
Gene: ENSMUSG00000039356

DomainStartEndE-ValueType
Pfam:ECR1_N 25 63 6.6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137156
AA Change: L207P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118770
Gene: ENSMUSG00000039356
AA Change: L207P

DomainStartEndE-ValueType
Pfam:ECR1_N 26 64 1.4e-18 PFAM
Blast:S1 79 159 3e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192043
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T A 9: 107,806,969 (GRCm39) F431I probably damaging Het
Asb18 C T 1: 89,896,315 (GRCm39) G242S probably damaging Het
Atp13a3 T C 16: 30,163,411 (GRCm39) I582V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bsph1 T C 7: 13,206,168 (GRCm39) Y78H probably damaging Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Cps1 T A 1: 67,213,653 (GRCm39) V795E probably damaging Het
Crhr1 A G 11: 104,064,419 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctbp2 A T 7: 132,593,321 (GRCm39) H793Q probably damaging Het
Cul5 T C 9: 53,529,190 (GRCm39) M805V probably benign Het
Dctn3 T C 4: 41,719,858 (GRCm39) K83E probably damaging Het
Ep300 A G 15: 81,485,480 (GRCm39) N156D unknown Het
Epb42 A T 2: 120,860,520 (GRCm39) L160M probably damaging Het
Fiz1 A G 7: 5,015,708 (GRCm39) F94S probably damaging Het
Gm5422 A G 10: 31,124,842 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,873 (GRCm39) F1280S probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kcnh1 T C 1: 191,924,238 (GRCm39) F151L probably benign Het
Nudc C T 4: 133,261,568 (GRCm39) G239S probably benign Het
Or6c215 T C 10: 129,637,720 (GRCm39) K225E possibly damaging Het
Plekhb1 T C 7: 100,294,857 (GRCm39) Y172C probably damaging Het
Plscr4 T C 9: 92,370,797 (GRCm39) S255P probably damaging Het
Rbm26 A G 14: 105,368,968 (GRCm39) V737A probably damaging Het
Rps6ka4 C A 19: 6,815,123 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rttn G A 18: 89,113,775 (GRCm39) probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Strip1 T C 3: 107,524,138 (GRCm39) H593R possibly damaging Het
Sycp1 A T 3: 102,783,666 (GRCm39) C603S probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc1 C T 9: 95,614,249 (GRCm39) R5Q probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Other mutations in Exosc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02376:Exosc2 APN 2 31,569,887 (GRCm39) missense possibly damaging 0.92
R0137:Exosc2 UTSW 2 31,562,497 (GRCm39) missense probably damaging 1.00
R1700:Exosc2 UTSW 2 31,560,818 (GRCm39) missense probably benign
R5415:Exosc2 UTSW 2 31,562,578 (GRCm39) missense possibly damaging 0.92
R6761:Exosc2 UTSW 2 31,560,875 (GRCm39) critical splice donor site probably null
R9291:Exosc2 UTSW 2 31,560,871 (GRCm39) missense probably benign
R9475:Exosc2 UTSW 2 31,564,755 (GRCm39) missense probably benign 0.00
R9509:Exosc2 UTSW 2 31,564,755 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTGCATTTGAACTTAGGAGC -3'
(R):5'- CTGCCTGGGTTATGGGAAAC -3'

Sequencing Primer
(F):5'- AGTGAACAATTCCACGGTTTG -3'
(R):5'- CCTGGGTTATGGGAAACAAAGTG -3'
Posted On 2015-02-18