Incidental Mutation 'R3789:Rexo2'
ID 272441
Institutional Source Beutler Lab
Gene Symbol Rexo2
Ensembl Gene ENSMUSG00000032026
Gene Name RNA exonuclease 2
Synonyms Sfn, 1810038D15Rik, Rex2, Smfn
MMRRC Submission 041604-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3789 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 48379812-48391911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48384362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 139 (I139T)
Ref Sequence ENSEMBL: ENSMUSP00000149774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034524] [ENSMUST00000213895] [ENSMUST00000217037] [ENSMUST00000216470]
AlphaFold Q9D8S4
Predicted Effect probably damaging
Transcript: ENSMUST00000034524
AA Change: I167T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034524
Gene: ENSMUSG00000032026
AA Change: I167T

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 damaging
Transcript: ENSMUST00000213895
AA Change: I139T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216624
Predicted Effect probably benign
Transcript: ENSMUST00000217037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216142
Predicted Effect probably benign
Transcript: ENSMUST00000216470
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,460,668 (GRCm39) I4226N probably damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Acvrl1 C T 15: 101,035,350 (GRCm39) T292M probably damaging Het
Adamts8 T C 9: 30,870,588 (GRCm39) S688P probably damaging Het
Adprs A T 4: 126,210,544 (GRCm39) I312N probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Clca4a C A 3: 144,680,717 (GRCm39) G20V probably damaging Het
Col12a1 C A 9: 79,547,005 (GRCm39) V2276L possibly damaging Het
Cstdc2 C A 2: 148,689,878 (GRCm39) E92* probably null Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ebf2 T A 14: 67,476,942 (GRCm39) probably null Het
Emc8 T C 8: 121,384,869 (GRCm39) T195A probably benign Het
Frs3 G A 17: 48,010,621 (GRCm39) probably null Het
Fsip2 T C 2: 82,813,058 (GRCm39) S640P probably damaging Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hivep3 T C 4: 119,955,613 (GRCm39) S1310P probably damaging Het
Hltf C T 3: 20,123,211 (GRCm39) P200S probably damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Lrp1 T C 10: 127,407,838 (GRCm39) D1817G possibly damaging Het
Lrpprc T C 17: 85,078,956 (GRCm39) I253V probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Mcm9 G A 10: 53,492,113 (GRCm39) R403W probably damaging Het
Mms22l A G 4: 24,517,115 (GRCm39) D222G possibly damaging Het
Mug1 G A 6: 121,861,587 (GRCm39) V1350I probably benign Het
Or56b2j T A 7: 104,353,156 (GRCm39) D127E probably damaging Het
Pclo A G 5: 14,730,464 (GRCm39) probably benign Het
Plekha7 A C 7: 115,774,969 (GRCm39) I175R probably damaging Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Prmt8 A T 6: 127,688,110 (GRCm39) I236N probably damaging Het
Rsbn1l A C 5: 21,101,106 (GRCm39) S811R probably benign Het
Sec24b T C 3: 129,814,276 (GRCm39) D345G probably benign Het
Serpina1b A G 12: 103,695,531 (GRCm39) S337P probably damaging Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Snx33 T C 9: 56,825,844 (GRCm39) E539G probably benign Het
Sorcs3 A G 19: 48,387,150 (GRCm39) T212A possibly damaging Het
Spa17 T G 9: 37,523,141 (GRCm39) K49Q possibly damaging Het
St3gal6 C T 16: 58,305,136 (GRCm39) E109K probably benign Het
Stat4 A G 1: 52,050,955 (GRCm39) N5D probably benign Het
Tmem232 C T 17: 65,689,520 (GRCm39) D532N probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tmem81 A G 1: 132,435,809 (GRCm39) N205S probably benign Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r23 A T 6: 123,718,348 (GRCm39) N567I probably 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
R0014:Rexo2 UTSW 9 48,385,747 (GRCm39) missense probably benign 0.31
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
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'- GGCTCCTGGAAAAGAGACTG -3'
(R):5'- ATCTGGATTGGTAACTACCCTGAG -3'

Sequencing Primer
(F):5'- CTCCTGGAAAAGAGACTGGAATG -3'
(R):5'- CATCCAGAGATGCTTTTTAGGAACGG -3'
Posted On 2015-03-25