Incidental Mutation 'R7398:Riok2'
ID 573992
Institutional Source Beutler Lab
Gene Symbol Riok2
Ensembl Gene ENSMUSG00000116564
Gene Name RIO kinase 2
Synonyms 2410085M17Rik, 2010110K24Rik
MMRRC Submission 045480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R7398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 17594594-17615161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 17607501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 350 (S350A)
Ref Sequence ENSEMBL: ENSMUSP00000024620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024620] [ENSMUST00000232199] [ENSMUST00000232396]
AlphaFold Q9CQS5
Predicted Effect probably benign
Transcript: ENSMUST00000024620
AA Change: S350A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024620
Gene: ENSMUSG00000116564
AA Change: S350A

DomainStartEndE-ValueType
Pfam:Rio2_N 9 91 9.5e-36 PFAM
Pfam:Kdo 105 193 6.3e-8 PFAM
Pfam:RIO1 108 284 1.7e-57 PFAM
Pfam:APH 194 278 3.2e-8 PFAM
low complexity region 326 340 N/A INTRINSIC
low complexity region 501 518 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000232199
Predicted Effect probably benign
Transcript: ENSMUST00000232396
AA Change: S350A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,680,811 (GRCm39) S368T probably damaging Het
Acmsd A G 1: 127,657,172 (GRCm39) probably benign Het
Arid3b A T 9: 57,703,495 (GRCm39) S445T probably benign Het
Brinp1 A G 4: 68,759,591 (GRCm39) V91A probably benign Het
Ccne1 A G 7: 37,805,702 (GRCm39) probably null Het
Col3a1 A T 1: 45,366,973 (GRCm39) I249F unknown Het
Crybg3 T C 16: 59,377,688 (GRCm39) I1189V probably benign Het
Cyp2d34 A T 15: 82,500,964 (GRCm39) D389E probably benign Het
D130043K22Rik A C 13: 25,077,360 (GRCm39) I998L probably damaging Het
Dgkq A G 5: 108,803,056 (GRCm39) I298T possibly damaging Het
Dnah17 T C 11: 117,971,550 (GRCm39) E2161G probably damaging Het
Dnajc25 T C 4: 59,017,824 (GRCm39) probably null Het
Dpp9 G A 17: 56,496,405 (GRCm39) R768* probably null Het
Dusp6 T A 10: 99,100,740 (GRCm39) N245K probably damaging Het
Eea1 C A 10: 95,831,493 (GRCm39) H195N probably benign Het
Efhc1 A G 1: 21,059,744 (GRCm39) E598G probably benign Het
Epb41l1 T C 2: 156,376,682 (GRCm39) V809A probably damaging Het
Gas8 T A 8: 124,245,690 (GRCm39) M1K probably null Het
Gcm1 G A 9: 77,971,961 (GRCm39) V301I probably benign Het
Gm11554 T A 11: 99,695,085 (GRCm39) S43C unknown Het
Gm7298 A G 6: 121,758,912 (GRCm39) I1177V probably benign Het
Gm8011 A G 14: 42,285,918 (GRCm39) T27A Het
Hmcn1 A G 1: 150,522,421 (GRCm39) I3493T probably benign Het
Insrr T G 3: 87,716,039 (GRCm39) I578S probably damaging Het
Kif13b A G 14: 64,994,972 (GRCm39) D908G probably null Het
Lhcgr G C 17: 89,079,474 (GRCm39) Q71E probably benign Het
Lrrc34 T C 3: 30,697,491 (GRCm39) D80G probably damaging Het
Lrrc7 C A 3: 157,997,595 (GRCm39) E156* probably null Het
Lrrc9 A G 12: 72,547,590 (GRCm39) D1255G probably damaging Het
Mcidas A G 13: 113,133,416 (GRCm39) N116D probably benign Het
Mmp7 A G 9: 7,697,594 (GRCm39) N210D probably damaging Het
Morc3 A G 16: 93,671,748 (GRCm39) D926G probably damaging Het
Mrgpra9 A G 7: 46,885,385 (GRCm39) I94T possibly damaging Het
Muc16 C A 9: 18,549,038 (GRCm39) V5752F possibly damaging Het
Myo16 A T 8: 10,612,183 (GRCm39) D1276V unknown Het
Nlrc4 T G 17: 74,753,537 (GRCm39) E282A probably damaging Het
Nos2 T A 11: 78,827,297 (GRCm39) Y227* probably null Het
Obox5 A C 7: 15,492,713 (GRCm39) M223L probably benign Het
Or10ak13 C A 4: 118,638,896 (GRCm39) L295F possibly damaging Het
Pygm G A 19: 6,435,966 (GRCm39) R139H probably damaging Het
Ranbp2 C A 10: 58,303,099 (GRCm39) P789T probably damaging Het
Rnf214 C T 9: 45,778,845 (GRCm39) V445I possibly damaging Het
Skida1 C T 2: 18,051,083 (GRCm39) V603I unknown Het
Skint6 T A 4: 112,755,335 (GRCm39) R747S probably benign Het
Slc24a5 G A 2: 124,927,694 (GRCm39) W331* probably null Het
Slc5a10 A T 11: 61,564,405 (GRCm39) C525S probably benign Het
Styxl2 A G 1: 165,928,044 (GRCm39) S523P probably damaging Het
Sult2b1 T C 7: 45,380,718 (GRCm39) Y288C probably damaging Het
Tagln3 G T 16: 45,543,440 (GRCm39) N67K probably damaging Het
Trav21-dv12 A T 14: 54,114,162 (GRCm39) H94L probably benign Het
Tshz2 A G 2: 169,726,094 (GRCm39) E230G probably damaging Het
Usb1 T A 8: 96,071,931 (GRCm39) H210Q probably damaging Het
Vill C T 9: 118,899,716 (GRCm39) P767L probably benign Het
Vmn2r94 A T 17: 18,477,603 (GRCm39) N269K probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Riok2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7237:Riok2 UTSW 17 17,598,045 (GRCm39) missense probably damaging 1.00
R7430:Riok2 UTSW 17 17,607,802 (GRCm39) missense probably benign 0.36
R9217:Riok2 UTSW 17 17,598,057 (GRCm39) missense possibly damaging 0.88
R9764:Riok2 UTSW 17 17,607,814 (GRCm39) missense probably benign 0.12
Z1177:Riok2 UTSW 17 17,603,613 (GRCm39) missense probably damaging 1.00
Z1177:Riok2 UTSW 17 17,598,843 (GRCm39) missense probably damaging 1.00
Z1177:Riok2 UTSW 17 17,594,848 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AATGCTGATACCTTCGTTCTCTAG -3'
(R):5'- GAACTCAGTAACCGACCTGTG -3'

Sequencing Primer
(F):5'- CGTTCTCTAGGAAGGAGGATTCTC -3'
(R):5'- TGGGGAAGAACCTGCCTTTC -3'
Posted On 2019-09-13