Incidental Mutation 'R6111:Rexo2'
ID 484849
Institutional Source Beutler Lab
Gene Symbol Rexo2
Ensembl Gene ENSMUSG00000032026
Gene Name RNA exonuclease 2
Synonyms Sfn, 1810038D15Rik, Rex2, Smfn
MMRRC Submission 044260-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6111 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 48379812-48391911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48384412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 122 (F122L)
Ref Sequence ENSEMBL: ENSMUSP00000149774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034524] [ENSMUST00000213895] [ENSMUST00000216470] [ENSMUST00000217037]
AlphaFold Q9D8S4
Predicted Effect probably damaging
Transcript: ENSMUST00000034524
AA Change: F150L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034524
Gene: ENSMUSG00000032026
AA Change: F150L

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: F122L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 probably benign
Transcript: ENSMUST00000217037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216624
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,476,021 (GRCm39) E1110G possibly damaging Het
Abcd4 G A 12: 84,661,888 (GRCm39) T79I probably damaging Het
Acd A G 8: 106,424,919 (GRCm39) M407T probably benign Het
Adcy2 T A 13: 68,877,360 (GRCm39) H460L probably damaging Het
Atad2 G A 15: 57,971,487 (GRCm39) H752Y probably benign Het
Bmal2 T C 6: 146,722,097 (GRCm39) F223L probably benign Het
Camsap2 A G 1: 136,209,036 (GRCm39) S819P probably benign Het
Col24a1 C A 3: 145,019,815 (GRCm39) T62K probably damaging Het
Cpne6 G A 14: 55,752,091 (GRCm39) V283M probably benign Het
D630003M21Rik A G 2: 158,055,368 (GRCm39) S590P probably damaging Het
Daam1 T A 12: 71,989,038 (GRCm39) M146K unknown Het
Dclk2 A G 3: 86,712,968 (GRCm39) Y495H probably benign Het
Ddx4 A T 13: 112,757,766 (GRCm39) C330* probably null Het
Dlec1 T C 9: 118,931,692 (GRCm39) L37P possibly damaging Het
Dock2 G A 11: 34,599,614 (GRCm39) P322S probably damaging Het
Espl1 A G 15: 102,208,323 (GRCm39) E443G probably damaging Het
Eya4 T A 10: 23,015,953 (GRCm39) D338V possibly damaging Het
Fcmr A G 1: 130,805,566 (GRCm39) I267V probably damaging Het
Gfra3 T A 18: 34,823,927 (GRCm39) H349L probably damaging Het
Gm25747 A G 12: 113,392,703 (GRCm39) probably benign Het
Gria4 G A 9: 4,502,430 (GRCm39) R368C probably damaging Het
H2-Q5 A T 17: 35,613,885 (GRCm39) I145F possibly damaging Het
Hace1 A T 10: 45,465,606 (GRCm39) K54I possibly damaging Het
Ift122 T A 6: 115,852,247 (GRCm39) I79N probably damaging Het
Ino80b A G 6: 83,101,347 (GRCm39) V121A probably damaging Het
Kcnq1 A G 7: 142,661,474 (GRCm39) T63A probably benign Het
Map4k4 C A 1: 40,050,822 (GRCm39) Q762K probably benign Het
Mios G A 6: 8,214,836 (GRCm39) A11T probably benign Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Notch2 T C 3: 98,053,609 (GRCm39) S2091P probably benign Het
Nudt19 T A 7: 35,254,952 (GRCm39) D93V probably benign Het
Or8b12b T C 9: 37,684,228 (GRCm39) I91T probably damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
P3h1 C T 4: 119,098,329 (GRCm39) R369* probably null Het
Pcdhb3 A T 18: 37,435,242 (GRCm39) I403L probably benign Het
Pigo T C 4: 43,019,724 (GRCm39) D935G probably benign Het
Plpp1 A G 13: 113,003,451 (GRCm39) H224R probably damaging Het
Rai1 T A 11: 60,078,732 (GRCm39) M932K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,153 (GRCm39) T77A unknown Het
Skint5 T C 4: 113,562,845 (GRCm39) T786A unknown Het
Smok3c C A 5: 138,063,365 (GRCm39) P284Q probably damaging Het
Spg11 A G 2: 121,923,963 (GRCm39) V786A probably damaging Het
Tmem273 T C 14: 32,528,755 (GRCm39) I40T possibly damaging Het
Tnfrsf10b T A 14: 70,020,007 (GRCm39) C380S possibly damaging Het
Tsen54 T C 11: 115,710,956 (GRCm39) V176A possibly damaging Het
Ttll4 A T 1: 74,736,698 (GRCm39) K1141M possibly damaging Het
Ttpa A T 4: 20,014,772 (GRCm39) I116F probably damaging Het
Tubgcp6 T C 15: 88,985,123 (GRCm39) D1655G possibly damaging Het
Usp38 A G 8: 81,740,551 (GRCm39) V172A probably damaging Het
Vmn2r73 A G 7: 85,520,997 (GRCm39) S324P probably benign Het
Wdr72 T C 9: 74,117,607 (GRCm39) M773T probably benign Het
Xirp2 T A 2: 67,342,161 (GRCm39) H1467Q possibly damaging Het
Zdhhc8 G T 16: 18,042,762 (GRCm39) S479R probably damaging Het
Zfp423 A G 8: 88,509,315 (GRCm39) V322A probably damaging Het
Zfp87 T G 13: 74,520,504 (GRCm39) E191D probably benign Het
Zfp933 T C 4: 147,913,217 (GRCm39) T14A 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
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
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'- GCTCCTGGAAAAGAGACTGG -3'
(R):5'- TCTGGATTGGTAACTACCCTGAG -3'

Sequencing Primer
(F):5'- CTGGAATGAGGAAGACAAACACCC -3'
(R):5'- AGGTACTCAGACTCATGGAGAC -3'
Posted On 2017-08-16