Incidental Mutation 'R9536:Arih2'
ID 719703
Institutional Source Beutler Lab
Gene Symbol Arih2
Ensembl Gene ENSMUSG00000064145
Gene Name ariadne RBR E3 ubiquitin protein ligase 2
Synonyms TRIAD1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9536 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108480141-108526585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 108488938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 260 (R260P)
Ref Sequence ENSEMBL: ENSMUSP00000013338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013338] [ENSMUST00000193190] [ENSMUST00000193197] [ENSMUST00000193552]
AlphaFold Q9Z1K6
Predicted Effect probably damaging
Transcript: ENSMUST00000013338
AA Change: R260P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145
AA Change: R260P

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
RING 138 171 1.21e-1 SMART
IBR 207 269 7.29e-23 SMART
ZnF_C2HC 255 271 2.03e0 SMART
IBR 277 339 1.81e-9 SMART
RING 299 339 5.86e-1 SMART
low complexity region 421 432 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000193190
AA Change: R260P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145
AA Change: R260P

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
RING 138 171 5.7e-4 SMART
IBR 207 269 2.5e-25 SMART
ZnF_C2HC 255 271 8.4e-3 SMART
Blast:IBR 277 317 2e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000193197
AA Change: R27P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141911
Gene: ENSMUSG00000064145
AA Change: R27P

DomainStartEndE-ValueType
IBR 1 36 1.5e-3 SMART
ZnF_C2HC 22 38 8.4e-3 SMART
Blast:IBR 44 79 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193552
Predicted Effect probably benign
Transcript: ENSMUST00000194073
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene causes altered dendritic cell physiology, enhanced liver apoptosis, and complete fetal lethality that is partially modified by genetic background. On a mixed genetic background, mice that survive past weaning succumb to a severe multiorgan inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,623 (GRCm39) L259F probably damaging Het
Adamts6 A C 13: 104,489,313 (GRCm39) I389L probably benign Het
Adcy7 A T 8: 89,053,026 (GRCm39) E974V possibly damaging Het
Agbl3 G T 6: 34,823,861 (GRCm39) R847M probably benign Het
Ank2 T G 3: 126,736,031 (GRCm39) Q3284H unknown Het
Bod1l C A 5: 41,974,305 (GRCm39) E2336D probably benign Het
Ccdc18 T C 5: 108,286,792 (GRCm39) S109P probably benign Het
Ccdc62 T C 5: 124,092,749 (GRCm39) F578S probably damaging Het
Chid1 A G 7: 141,093,755 (GRCm39) V287A probably benign Het
Cyp26b1 T G 6: 84,553,999 (GRCm39) D206A probably benign Het
Dennd6a A T 14: 26,329,758 (GRCm39) K334* probably null Het
Drd3 T C 16: 43,637,368 (GRCm39) V189A probably damaging Het
Fmn1 T C 2: 113,309,262 (GRCm39) I728T unknown Het
Frem3 G A 8: 81,342,048 (GRCm39) G1447D probably benign Het
Gck T C 11: 5,852,307 (GRCm39) D344G possibly damaging Het
Gimap9 T A 6: 48,654,416 (GRCm39) M1K probably null Het
Glb1l3 T C 9: 26,770,929 (GRCm39) T46A probably benign Het
Gm13941 T C 2: 110,918,861 (GRCm39) T198A unknown Het
Gphn T G 12: 78,609,636 (GRCm39) S327A possibly damaging Het
Hmcn2 T C 2: 31,335,130 (GRCm39) S4356P possibly damaging Het
Iqgap1 A T 7: 80,458,840 (GRCm39) M26K Het
Iqsec1 A G 6: 90,666,659 (GRCm39) Y489H probably damaging Het
Lars1 T A 18: 42,376,046 (GRCm39) R255* probably null Het
Lrp5 G A 19: 3,672,672 (GRCm39) H546Y probably damaging Het
Or2c1 T A 16: 3,657,438 (GRCm39) N200K possibly damaging Het
Or52a5b A T 7: 103,416,779 (GRCm39) V275E probably damaging Het
Or5p61 T C 7: 107,759,075 (GRCm39) I2V probably benign Het
Or6c33 G A 10: 129,853,345 (GRCm39) M38I probably benign Het
Osbpl6 T A 2: 76,416,554 (GRCm39) C691S probably benign Het
Pcbp3 G A 10: 76,599,225 (GRCm39) L304F possibly damaging Het
Pramel34 G C 5: 93,784,289 (GRCm39) L392V probably damaging Het
Rpl5 T A 5: 108,051,721 (GRCm39) S172T probably benign Het
Rps2 C T 17: 24,940,851 (GRCm39) H297Y unknown Het
Scp2 A T 4: 107,928,532 (GRCm39) V386E possibly damaging Het
Sh2d5 T A 4: 137,986,420 (GRCm39) V381E probably benign Het
Styxl1 T C 5: 135,776,634 (GRCm39) E318G probably benign Het
Tat T A 8: 110,722,711 (GRCm39) C258S probably benign Het
Thbs2 T C 17: 14,910,147 (GRCm39) N151D probably damaging Het
Thbs3 A T 3: 89,124,044 (GRCm39) I46F possibly damaging Het
Trpm6 A T 19: 18,764,123 (GRCm39) D243V probably damaging Het
Ttn T A 2: 76,739,017 (GRCm39) N3887Y unknown Het
Ubap2 A G 4: 41,195,661 (GRCm39) S1020P probably benign Het
Ubtfl1 A T 9: 18,320,537 (GRCm39) M22L probably benign Het
V1rd19 A T 7: 23,703,253 (GRCm39) I240F probably damaging Het
Vwa5b2 C T 16: 20,414,449 (GRCm39) P275L probably damaging Het
Zfp386 G A 12: 116,023,686 (GRCm39) C468Y probably damaging Het
Zfp975 A C 7: 42,312,345 (GRCm39) H89Q probably benign Het
Zfyve26 T A 12: 79,298,046 (GRCm39) N1881I probably benign Het
Other mutations in Arih2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Arih2 APN 9 108,482,609 (GRCm39) missense probably damaging 1.00
IGL03213:Arih2 APN 9 108,484,546 (GRCm39) missense probably damaging 1.00
R0009:Arih2 UTSW 9 108,488,926 (GRCm39) missense probably damaging 1.00
R0009:Arih2 UTSW 9 108,488,926 (GRCm39) missense probably damaging 1.00
R0314:Arih2 UTSW 9 108,485,878 (GRCm39) missense probably damaging 1.00
R0413:Arih2 UTSW 9 108,493,916 (GRCm39) missense probably damaging 0.98
R0450:Arih2 UTSW 9 108,482,291 (GRCm39) missense possibly damaging 0.57
R0469:Arih2 UTSW 9 108,482,291 (GRCm39) missense possibly damaging 0.57
R0865:Arih2 UTSW 9 108,526,499 (GRCm39) utr 5 prime probably benign
R2099:Arih2 UTSW 9 108,493,937 (GRCm39) missense probably damaging 1.00
R2913:Arih2 UTSW 9 108,521,275 (GRCm39) missense probably damaging 1.00
R4383:Arih2 UTSW 9 108,521,476 (GRCm39) start codon destroyed probably benign 0.41
R4636:Arih2 UTSW 9 108,491,013 (GRCm39) missense probably damaging 1.00
R5033:Arih2 UTSW 9 108,488,859 (GRCm39) unclassified probably benign
R5562:Arih2 UTSW 9 108,484,546 (GRCm39) missense probably damaging 1.00
R5976:Arih2 UTSW 9 108,485,172 (GRCm39) makesense probably null
R6248:Arih2 UTSW 9 108,488,841 (GRCm39) missense probably damaging 0.97
R8312:Arih2 UTSW 9 108,521,473 (GRCm39) missense probably damaging 0.99
R8349:Arih2 UTSW 9 108,488,872 (GRCm39) missense possibly damaging 0.86
R8449:Arih2 UTSW 9 108,488,872 (GRCm39) missense possibly damaging 0.86
R8883:Arih2 UTSW 9 108,486,992 (GRCm39) missense probably damaging 1.00
R8911:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R8912:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R8914:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9091:Arih2 UTSW 9 108,493,890 (GRCm39) missense probably damaging 1.00
R9270:Arih2 UTSW 9 108,493,890 (GRCm39) missense probably damaging 1.00
R9348:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9349:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9350:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9409:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9410:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9411:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9415:Arih2 UTSW 9 108,486,986 (GRCm39) missense probably damaging 1.00
R9465:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9466:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9478:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9479:Arih2 UTSW 9 108,488,938 (GRCm39) missense probably damaging 0.99
R9776:Arih2 UTSW 9 108,484,504 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGGCTACATGCTCTTCTCAG -3'
(R):5'- CTCTCCCTCAAGATCAGGAAGC -3'

Sequencing Primer
(F):5'- TCTCAGATGGTTAATCTACAGGGAG -3'
(R):5'- TCAAGATCAGGAAGCACTCTG -3'
Posted On 2022-07-18