Incidental Mutation 'R0014:Rexo2'
ID201328
Institutional Source Beutler Lab
Gene Symbol Rexo2
Ensembl Gene ENSMUSG00000032026
Gene NameRNA exonuclease 2
SynonymsSfn, 1810038D15Rik, Smfn
MMRRC Submission 038309-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0014 (G1)
Quality Score39
Status Validated
Chromosome9
Chromosomal Location48468512-48480623 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 48474447 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 126 (S126T)
Ref Sequence ENSEMBL: ENSMUSP00000034524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034524] [ENSMUST00000213895] [ENSMUST00000216470] [ENSMUST00000217037]
Predicted Effect probably benign
Transcript: ENSMUST00000034524
AA Change: S126T

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034524
Gene: ENSMUSG00000032026
AA Change: S126T

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
low complexity region 27 40 N/A INTRINSIC
EXOIII 42 216 4.66e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213875
Predicted Effect probably benign
Transcript: ENSMUST00000213895
AA Change: S98T

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216142
Predicted Effect probably benign
Transcript: ENSMUST00000216470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216624
Predicted Effect probably benign
Transcript: ENSMUST00000217037
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130409I23Rik T C 1: 181,055,131 F153L possibly damaging Het
A1bg T A 15: 60,919,732 D92V probably damaging Het
Ankrd52 C A 10: 128,386,452 T583K probably benign Het
C3ar1 C T 6: 122,850,851 V136M probably damaging Het
Capg A G 6: 72,561,043 E304G possibly damaging Het
Ccdc125 A C 13: 100,684,338 N189T possibly damaging Het
Ccr5 T C 9: 124,124,621 F87S probably damaging Het
Cd2ap T C 17: 42,807,928 S540G probably benign Het
Cdt1 C T 8: 122,572,566 T529M probably benign Het
Cfap126 A G 1: 171,125,784 D49G possibly damaging Het
Cngb3 T C 4: 19,396,685 I346T probably benign Het
Dgkd A G 1: 87,881,881 D97G probably damaging Het
Dgkg A T 16: 22,565,364 probably null Het
Dmbx1 G T 4: 115,918,024 T358K probably damaging Het
Epc2 A T 2: 49,522,525 K172* probably null Het
F2rl2 A T 13: 95,700,909 N154I probably damaging Het
Fyttd1 G A 16: 32,905,554 R175Q probably damaging Het
Gbp5 T A 3: 142,506,735 C395S probably damaging Het
Gen1 T C 12: 11,241,641 N716D probably benign Het
Helz2 A G 2: 181,240,511 L163P probably damaging Het
Hmox2 T A 16: 4,765,033 L210Q probably damaging Het
Klhl28 T C 12: 64,957,302 T146A probably benign Het
Lrrk2 T C 15: 91,802,045 probably benign Het
Man2c1 T A 9: 57,139,701 M580K probably benign Het
Neb G A 2: 52,287,156 A1391V probably damaging Het
Nyap2 T C 1: 81,241,951 S563P probably damaging Het
Olfr1301 A G 2: 111,754,774 D175G probably damaging Het
Olfr520 T C 7: 99,736,049 V302A probably damaging Het
Olfr543 A G 7: 102,477,477 I131T probably damaging Het
P2rx5 T A 11: 73,167,062 probably benign Het
Pclo C T 5: 14,680,451 probably benign Het
Pex1 G A 5: 3,626,141 probably benign Het
Polr2g A G 19: 8,793,652 I160T probably damaging Het
Psma8 A G 18: 14,726,530 I86V possibly damaging Het
Ptpdc1 G T 13: 48,586,919 Y345* probably null Het
Rcbtb1 G T 14: 59,235,242 K493N probably benign Het
Rorc T A 3: 94,377,613 probably benign Het
Slc7a2 T C 8: 40,911,028 L426P probably damaging Het
Syde1 T C 10: 78,590,034 T100A probably benign Het
Tbc1d20 A T 2: 152,311,781 Q342L probably benign Het
Thbs1 A G 2: 118,113,350 T150A possibly damaging Het
Trpm1 A G 7: 64,248,222 H317R probably damaging Het
Tut1 T A 19: 8,962,447 L265Q possibly damaging Het
Wdfy4 A G 14: 33,107,173 F1029L possibly damaging Het
Wdr63 T C 3: 146,081,423 probably null Het
Wdr7 A G 18: 63,904,101 T1199A probably benign Het
Zfp458 A G 13: 67,258,090 V95A possibly damaging Het
Zscan18 A T 7: 12,769,417 F738L possibly damaging Het
Other mutations in Rexo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Rexo2 APN 9 48474447 missense probably damaging 1.00
IGL01634:Rexo2 APN 9 48468915 missense probably damaging 1.00
R1253:Rexo2 UTSW 9 48468932 missense probably damaging 1.00
R1534:Rexo2 UTSW 9 48468890 missense probably damaging 0.99
R2062:Rexo2 UTSW 9 48474513 missense possibly damaging 0.94
R3789:Rexo2 UTSW 9 48473062 missense probably damaging 1.00
R4343:Rexo2 UTSW 9 48468848 missense possibly damaging 0.95
R4594:Rexo2 UTSW 9 48480417 missense probably damaging 1.00
R4907:Rexo2 UTSW 9 48479403 splice site probably null
R4972:Rexo2 UTSW 9 48479389 missense probably damaging 1.00
R5833:Rexo2 UTSW 9 48468871 missense probably benign
R5861:Rexo2 UTSW 9 48475181 missense probably damaging 1.00
R6111:Rexo2 UTSW 9 48473112 missense probably damaging 1.00
R7780:Rexo2 UTSW 9 48468845 missense probably damaging 1.00
R8053:Rexo2 UTSW 9 48475118 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAAGTGGACGAGCACTCCGAATC -3'
(R):5'- TATCCTTGGACTCTGAGCGCCATC -3'

Sequencing Primer
(F):5'- CACTCCGAATCAGGTGAGTGG -3'
(R):5'- CAGTTTCAGTTCAAACTTGAGCC -3'
Posted On2014-06-02