Incidental Mutation 'R0014:Rexo2'
ID 201328
Institutional Source Beutler Lab
Gene Symbol Rexo2
Ensembl Gene ENSMUSG00000032026
Gene Name RNA exonuclease 2
Synonyms Sfn, 1810038D15Rik, Rex2, Smfn
MMRRC Submission 038309-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0014 (G1)
Quality Score 39
Status Validated
Chromosome 9
Chromosomal Location 48379812-48391911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48385747 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000217037] [ENSMUST00000216470]
AlphaFold Q9D8S4
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: ENSMUST00000217037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216624
Predicted Effect probably benign
Transcript: ENSMUST00000216470
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
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Ankrd52 C A 10: 128,222,321 (GRCm39) T583K probably benign Het
C3ar1 C T 6: 122,827,810 (GRCm39) V136M probably damaging Het
Capg A G 6: 72,538,026 (GRCm39) E304G possibly damaging Het
Ccdc125 A C 13: 100,820,846 (GRCm39) N189T possibly damaging Het
Ccr5 T C 9: 123,924,658 (GRCm39) F87S probably damaging Het
Cd2ap T C 17: 43,118,819 (GRCm39) S540G probably benign Het
Cdt1 C T 8: 123,299,305 (GRCm39) T529M probably benign Het
Cfap126 A G 1: 170,953,353 (GRCm39) D49G possibly damaging Het
Cngb3 T C 4: 19,396,685 (GRCm39) I346T probably benign Het
Degs1l T C 1: 180,882,696 (GRCm39) F153L possibly damaging Het
Dgkd A G 1: 87,809,603 (GRCm39) D97G probably damaging Het
Dgkg A T 16: 22,384,114 (GRCm39) probably null Het
Dmbx1 G T 4: 115,775,221 (GRCm39) T358K probably damaging Het
Dnai3 T C 3: 145,787,178 (GRCm39) probably null Het
Epc2 A T 2: 49,412,537 (GRCm39) K172* probably null Het
F2rl2 A T 13: 95,837,417 (GRCm39) N154I probably damaging Het
Fyttd1 G A 16: 32,725,924 (GRCm39) R175Q probably damaging Het
Gbp5 T A 3: 142,212,496 (GRCm39) C395S probably damaging Het
Gen1 T C 12: 11,291,642 (GRCm39) N716D probably benign Het
Helz2 A G 2: 180,882,304 (GRCm39) L163P probably damaging Het
Hmox2 T A 16: 4,582,897 (GRCm39) L210Q probably damaging Het
Klhl28 T C 12: 65,004,076 (GRCm39) T146A probably benign Het
Lrrk2 T C 15: 91,686,248 (GRCm39) probably benign Het
Man2c1 T A 9: 57,046,985 (GRCm39) M580K probably benign Het
Neb G A 2: 52,177,168 (GRCm39) A1391V probably damaging Het
Nyap2 T C 1: 81,219,666 (GRCm39) S563P probably damaging Het
Or2at4 T C 7: 99,385,256 (GRCm39) V302A probably damaging Het
Or4k51 A G 2: 111,585,119 (GRCm39) D175G probably damaging Het
Or55b3 A G 7: 102,126,684 (GRCm39) I131T probably damaging Het
P2rx5 T A 11: 73,057,888 (GRCm39) probably benign Het
Pclo C T 5: 14,730,465 (GRCm39) probably benign Het
Pex1 G A 5: 3,676,141 (GRCm39) probably benign Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Psma8 A G 18: 14,859,587 (GRCm39) I86V possibly damaging Het
Ptpdc1 G T 13: 48,740,395 (GRCm39) Y345* probably null Het
Rcbtb1 G T 14: 59,472,691 (GRCm39) K493N probably benign Het
Rorc T A 3: 94,284,920 (GRCm39) probably benign Het
Slc7a2 T C 8: 41,364,065 (GRCm39) L426P probably damaging Het
Syde1 T C 10: 78,425,868 (GRCm39) T100A probably benign Het
Tbc1d20 A T 2: 152,153,701 (GRCm39) Q342L probably benign Het
Thbs1 A G 2: 117,943,831 (GRCm39) T150A possibly damaging Het
Trpm1 A G 7: 63,897,970 (GRCm39) H317R probably damaging Het
Tut1 T A 19: 8,939,811 (GRCm39) L265Q possibly damaging Het
Wdfy4 A G 14: 32,829,130 (GRCm39) F1029L possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp458 A G 13: 67,406,154 (GRCm39) V95A possibly damaging Het
Zscan18 A T 7: 12,503,344 (GRCm39) F738L possibly damaging Het
Other mutations in Rexo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Rexo2 APN 9 48,385,747 (GRCm39) missense probably damaging 1.00
IGL01634:Rexo2 APN 9 48,380,215 (GRCm39) missense probably damaging 1.00
R1253:Rexo2 UTSW 9 48,380,232 (GRCm39) missense probably damaging 1.00
R1534:Rexo2 UTSW 9 48,380,190 (GRCm39) missense probably damaging 0.99
R2062:Rexo2 UTSW 9 48,385,813 (GRCm39) missense possibly damaging 0.94
R3789:Rexo2 UTSW 9 48,384,362 (GRCm39) missense probably damaging 1.00
R4343:Rexo2 UTSW 9 48,380,148 (GRCm39) missense possibly damaging 0.95
R4594:Rexo2 UTSW 9 48,391,717 (GRCm39) missense probably damaging 1.00
R4907:Rexo2 UTSW 9 48,390,703 (GRCm39) splice site probably null
R4972:Rexo2 UTSW 9 48,390,689 (GRCm39) missense probably damaging 1.00
R5833:Rexo2 UTSW 9 48,380,171 (GRCm39) missense probably benign
R5861:Rexo2 UTSW 9 48,386,481 (GRCm39) missense probably damaging 1.00
R6111:Rexo2 UTSW 9 48,384,412 (GRCm39) missense probably damaging 1.00
R7780:Rexo2 UTSW 9 48,380,145 (GRCm39) missense probably damaging 1.00
R8053:Rexo2 UTSW 9 48,386,418 (GRCm39) critical splice donor site probably null
R9492:Rexo2 UTSW 9 48,380,176 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAGTGGACGAGCACTCCGAATC -3'
(R):5'- TATCCTTGGACTCTGAGCGCCATC -3'

Sequencing Primer
(F):5'- CACTCCGAATCAGGTGAGTGG -3'
(R):5'- CAGTTTCAGTTCAAACTTGAGCC -3'
Posted On 2014-06-02