Incidental Mutation 'R8551:Eri2'
ID 668212
Institutional Source Beutler Lab
Gene Symbol Eri2
Ensembl Gene ENSMUSG00000030929
Gene Name exoribonuclease 2
Synonyms Exod1, 4933424N09Rik
MMRRC Submission 068516-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R8551 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119383049-119393283 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 119387062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033224] [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000106528] [ENSMUST00000106529] [ENSMUST00000139192] [ENSMUST00000150844]
AlphaFold Q5BKS4
Predicted Effect probably benign
Transcript: ENSMUST00000033224
Predicted Effect probably benign
Transcript: ENSMUST00000063770
SMART Domains Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000063902
SMART Domains Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
transmembrane domain 245 262 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106523
SMART Domains Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106526
SMART Domains Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106527
SMART Domains Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106528
SMART Domains Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106529
SMART Domains Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 1.1e-78 PFAM
Pfam:AMP-binding_C 486 566 9.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139192
SMART Domains Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
Pfam:RNase_T 21 160 1.2e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000150844
SMART Domains Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
low complexity region 362 381 N/A INTRINSIC
Pfam:zf-GRF 592 640 1.4e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 G A 7: 82,189,678 (GRCm39) R634H probably benign Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
Dnah12 T A 14: 26,496,227 (GRCm39) I1493K probably damaging Het
Dnah7b T C 1: 46,155,360 (GRCm39) S303P possibly damaging Het
Erlec1 C A 11: 30,881,829 (GRCm39) C467F probably damaging Het
Exph5 A G 9: 53,285,351 (GRCm39) T811A possibly damaging Het
Galr1 T A 18: 82,424,191 (GRCm39) I29F probably benign Het
Gata3 C A 2: 9,867,994 (GRCm39) C320F probably damaging Het
Ggnbp2 A T 11: 84,732,351 (GRCm39) Y247* probably null Het
Gnao1 A G 8: 94,682,735 (GRCm39) Q307R probably damaging Het
Hbp1 T C 12: 31,980,709 (GRCm39) T465A probably damaging Het
Liph C G 16: 21,800,158 (GRCm39) G152R probably damaging Het
Lrguk T C 6: 34,093,446 (GRCm39) S656P probably damaging Het
Lyrm4 T A 13: 36,163,844 (GRCm39) N85I probably benign Het
Lyst T A 13: 13,808,645 (GRCm39) I105N possibly damaging Het
Maml3 T C 3: 51,764,488 (GRCm39) T159A probably benign Het
Man1c1 A T 4: 134,430,326 (GRCm39) L152* probably null Het
Map3k20 T G 2: 72,232,704 (GRCm39) probably benign Het
Mthfsl G T 9: 88,570,943 (GRCm39) R102S possibly damaging Het
Myo3a T A 2: 22,337,277 (GRCm39) S391R probably benign Het
Naa50 A G 16: 43,979,996 (GRCm39) D128G probably benign Het
Nlrp14 C T 7: 106,782,359 (GRCm39) R519C possibly damaging Het
Or5b119 A G 19: 13,457,109 (GRCm39) I151T possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Oxtr T C 6: 112,465,939 (GRCm39) K274E probably damaging Het
Prkn A G 17: 11,286,103 (GRCm39) K32R probably damaging Het
Relt T C 7: 100,512,409 (GRCm39) probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Ryr2 T A 13: 11,575,479 (GRCm39) I4840F possibly damaging Het
Sccpdh T A 1: 179,509,013 (GRCm39) Y27N probably damaging Het
Slc7a5 A G 8: 122,613,050 (GRCm39) S343P probably damaging Het
Snrnp200 A G 2: 127,068,971 (GRCm39) D950G probably benign Het
Stk38 A G 17: 29,207,199 (GRCm39) Y115H probably damaging Het
Tas2r116 T C 6: 132,832,993 (GRCm39) V198A probably benign Het
Tfap2d A G 1: 19,175,024 (GRCm39) D159G probably benign Het
Trim69 A G 2: 122,003,810 (GRCm39) D253G probably benign Het
Trpv4 A T 5: 114,768,900 (GRCm39) F359I possibly damaging Het
Twist1 C T 12: 34,008,103 (GRCm39) R43W unknown Het
Usp19 A T 9: 108,376,496 (GRCm39) E1026V possibly damaging Het
Virma A G 4: 11,513,397 (GRCm39) Y417C probably damaging Het
Zfp735 A G 11: 73,603,122 (GRCm39) I689V probably benign Het
Other mutations in Eri2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Eri2 APN 7 119,386,964 (GRCm39) missense probably benign 0.44
IGL00987:Eri2 APN 7 119,390,389 (GRCm39) missense probably damaging 1.00
IGL01139:Eri2 APN 7 119,385,960 (GRCm39) critical splice donor site probably null
IGL01476:Eri2 APN 7 119,389,472 (GRCm39) missense probably damaging 1.00
IGL02019:Eri2 APN 7 119,385,303 (GRCm39) nonsense probably null
IGL02208:Eri2 APN 7 119,385,158 (GRCm39) missense probably benign 0.00
IGL02395:Eri2 APN 7 119,387,033 (GRCm39) missense probably damaging 0.98
IGL02405:Eri2 APN 7 119,384,705 (GRCm39) missense probably damaging 1.00
IGL02646:Eri2 APN 7 119,385,331 (GRCm39) missense possibly damaging 0.87
IGL02659:Eri2 APN 7 119,386,665 (GRCm39) missense probably damaging 0.98
alien UTSW 7 119,390,397 (GRCm39) missense probably damaging 1.00
extraterrestrial UTSW 7 119,393,139 (GRCm39) critical splice donor site probably null
G5030:Eri2 UTSW 7 119,385,601 (GRCm39) missense possibly damaging 0.58
K7894:Eri2 UTSW 7 119,384,494 (GRCm39) missense probably benign 0.39
PIT4434001:Eri2 UTSW 7 119,385,524 (GRCm39) missense probably benign 0.00
R0152:Eri2 UTSW 7 119,389,606 (GRCm39) missense probably damaging 1.00
R0378:Eri2 UTSW 7 119,393,139 (GRCm39) critical splice donor site probably null
R0532:Eri2 UTSW 7 119,385,206 (GRCm39) missense probably benign 0.22
R0630:Eri2 UTSW 7 119,385,640 (GRCm39) missense probably benign 0.27
R1192:Eri2 UTSW 7 119,391,540 (GRCm39) missense probably damaging 1.00
R1416:Eri2 UTSW 7 119,390,397 (GRCm39) missense probably damaging 1.00
R1884:Eri2 UTSW 7 119,390,346 (GRCm39) missense probably benign 0.12
R2173:Eri2 UTSW 7 119,385,766 (GRCm39) missense possibly damaging 0.67
R2961:Eri2 UTSW 7 119,384,567 (GRCm39) missense probably benign
R3805:Eri2 UTSW 7 119,385,231 (GRCm39) nonsense probably null
R3807:Eri2 UTSW 7 119,385,231 (GRCm39) nonsense probably null
R4534:Eri2 UTSW 7 119,389,466 (GRCm39) missense probably damaging 1.00
R4738:Eri2 UTSW 7 119,386,955 (GRCm39) critical splice donor site probably null
R4776:Eri2 UTSW 7 119,384,169 (GRCm39) utr 3 prime probably benign
R4780:Eri2 UTSW 7 119,384,903 (GRCm39) missense probably benign 0.43
R5037:Eri2 UTSW 7 119,384,897 (GRCm39) missense probably benign
R5260:Eri2 UTSW 7 119,387,069 (GRCm39) splice site probably benign
R5315:Eri2 UTSW 7 119,385,241 (GRCm39) missense probably benign 0.00
R5884:Eri2 UTSW 7 119,371,552 (GRCm39) makesense probably null
R5927:Eri2 UTSW 7 119,385,291 (GRCm39) missense probably damaging 1.00
R6937:Eri2 UTSW 7 119,386,012 (GRCm39) missense probably damaging 0.96
R7296:Eri2 UTSW 7 119,385,739 (GRCm39) nonsense probably null
R7302:Eri2 UTSW 7 119,386,009 (GRCm39) missense probably benign 0.38
R7480:Eri2 UTSW 7 119,385,734 (GRCm39) nonsense probably null
R7494:Eri2 UTSW 7 119,385,304 (GRCm39) missense probably damaging 0.99
R7524:Eri2 UTSW 7 119,384,972 (GRCm39) missense probably benign 0.00
R8187:Eri2 UTSW 7 119,384,767 (GRCm39) missense probably damaging 1.00
R8373:Eri2 UTSW 7 119,371,820 (GRCm39) missense probably benign 0.02
R9710:Eri2 UTSW 7 119,384,824 (GRCm39) missense probably benign
R9720:Eri2 UTSW 7 119,386,976 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGTTATTACTGCTGTGCTGTCTC -3'
(R):5'- CCCAGAAGATAGCATTTTGAAACAG -3'

Sequencing Primer
(F):5'- GCTGTGCTGTCTCAAATATTTTAAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2021-04-28