Incidental Mutation 'R7480:Eri2'
ID 579740
Institutional Source Beutler Lab
Gene Symbol Eri2
Ensembl Gene ENSMUSG00000030929
Gene Name exoribonuclease 2
Synonyms Exod1, 4933424N09Rik
MMRRC Submission 045554-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R7480 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119383049-119393283 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 119385734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 256 (R256*)
Ref Sequence ENSEMBL: ENSMUSP00000120547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033224] [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000106528] [ENSMUST00000150844] [ENSMUST00000106529] [ENSMUST00000139192]
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 benign
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 benign
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 null
Transcript: ENSMUST00000150844
AA Change: R256*
SMART Domains Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: R256*

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
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg9 T G 9: 50,733,928 (GRCm39) M542R probably benign Het
Apol10b G T 15: 77,472,988 (GRCm39) A22D probably benign Het
Arhgap45 T A 10: 79,862,936 (GRCm39) L704* probably null Het
Bicc1 T C 10: 70,779,306 (GRCm39) D694G probably damaging Het
C1ql3 A T 2: 13,015,150 (GRCm39) I170N probably damaging Het
Casz1 T C 4: 149,029,043 (GRCm39) F1163L probably damaging Het
Ces2f A G 8: 105,681,338 (GRCm39) K559R possibly damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Cr2 C T 1: 194,836,484 (GRCm39) C893Y probably damaging Het
Csf1r T G 18: 61,250,610 (GRCm39) D440E probably benign Het
Cul9 A T 17: 46,848,738 (GRCm39) M666K probably benign Het
Dapk1 A G 13: 60,905,311 (GRCm39) D1007G probably benign Het
Dlk1 T A 12: 109,421,540 (GRCm39) C85S probably damaging Het
Epb41l3 A C 17: 69,568,867 (GRCm39) probably null Het
Fshr A C 17: 89,292,802 (GRCm39) Y625* probably null Het
Galk2 A G 2: 125,788,845 (GRCm39) I300V probably benign Het
Garin1a G A 6: 29,281,435 (GRCm39) probably null Het
Gm3409 T A 5: 146,476,311 (GRCm39) V154E probably damaging Het
Gm7356 A G 17: 14,221,327 (GRCm39) I234T possibly damaging Het
Gtf3c1 T C 7: 125,241,713 (GRCm39) Y1995C probably benign Het
Herc6 C T 6: 57,558,206 (GRCm39) T62I possibly damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hmcn1 A T 1: 150,552,985 (GRCm39) probably null Het
Iqca1l T G 5: 24,751,904 (GRCm39) E498A probably damaging Het
Jrk G T 15: 74,578,902 (GRCm39) P128T probably benign Het
Kctd14 T C 7: 97,107,431 (GRCm39) F229L probably benign Het
Kif27 A T 13: 58,436,025 (GRCm39) V1256E probably benign Het
Klk13 T C 7: 43,370,846 (GRCm39) S133P probably benign Het
Mpzl1 A G 1: 165,432,257 (GRCm39) V176A possibly damaging Het
Mxi1 A G 19: 53,360,066 (GRCm39) T263A possibly damaging Het
Nfxl1 C T 5: 72,716,595 (GRCm39) W5* probably null Het
Nt5dc1 C T 10: 34,200,450 (GRCm39) G190R probably damaging Het
Nt5dc1 C A 10: 34,200,449 (GRCm39) G190V probably damaging Het
Oprd1 A G 4: 131,844,492 (GRCm39) I172T possibly damaging Het
Or1f19 A T 16: 3,410,493 (GRCm39) T78S probably benign Het
Or4k38 A G 2: 111,165,737 (GRCm39) S229P probably benign Het
Or6f1 A G 7: 85,970,888 (GRCm39) S91P probably benign Het
Or7e173 C T 9: 19,939,230 (GRCm39) M1I probably null Het
Pafah1b1 A C 11: 74,576,740 (GRCm39) C184G probably damaging Het
Pde5a A T 3: 122,596,797 (GRCm39) N495Y possibly damaging Het
Piezo1 A T 8: 123,225,234 (GRCm39) Y588* probably null Het
Plekha7 A T 7: 115,736,403 (GRCm39) probably null Het
Pramel11 T C 4: 143,622,065 (GRCm39) D430G probably benign Het
Prdm11 T C 2: 92,805,669 (GRCm39) K427R probably benign Het
Rai14 C A 15: 10,571,622 (GRCm39) E940D probably benign Het
Rasl11b T A 5: 74,358,771 (GRCm39) V92E possibly damaging Het
Rassf8 T A 6: 145,765,757 (GRCm39) I29K unknown Het
Reg3a C T 6: 78,359,330 (GRCm39) T110I probably damaging Het
Scaf1 C T 7: 44,657,073 (GRCm39) G602D unknown Het
Senp6 T C 9: 80,029,199 (GRCm39) C521R probably damaging Het
Senp7 G A 16: 55,975,589 (GRCm39) V432I possibly damaging Het
Skint8 A T 4: 111,785,784 (GRCm39) R77* probably null Het
Slamf9 G A 1: 172,305,040 (GRCm39) C218Y probably damaging Het
Slc8a1 T C 17: 81,956,649 (GRCm39) T130A probably damaging Het
Smpdl3a A G 10: 57,678,574 (GRCm39) I126V possibly damaging Het
Taar9 T A 10: 23,984,843 (GRCm39) N197I possibly damaging Het
Tango6 A T 8: 107,423,359 (GRCm39) D378V possibly damaging Het
Tfb2m A G 1: 179,356,747 (GRCm39) F396L probably benign Het
Thbs4 G A 13: 92,903,729 (GRCm39) P429L probably benign Het
Tnxb A G 17: 34,934,747 (GRCm39) D2452G probably damaging Het
Ulk3 C T 9: 57,498,523 (GRCm39) R131* probably null Het
Vmn1r179 A T 7: 23,628,558 (GRCm39) R250* probably null Het
Vmn1r54 A G 6: 90,246,160 (GRCm39) I25V possibly damaging Het
Wnt7a C A 6: 91,371,395 (GRCm39) R189L probably benign Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Xpo6 G A 7: 125,701,505 (GRCm39) R1112* probably null Het
Zfp114 T A 7: 23,881,307 (GRCm39) V552D probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
R8551:Eri2 UTSW 7 119,387,062 (GRCm39) splice site probably null
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'- CACAGATGTCGACGACTTGG -3'
(R):5'- TCCTCGGGTAGTAGTCATGTTC -3'

Sequencing Primer
(F):5'- ACAGATGTCGACGACTTGGTAGTG -3'
(R):5'- GCACCAATGACATTTTTCC -3'
Posted On 2019-10-07