Incidental Mutation 'R0735:Rps6kb2'
ID 68257
Institutional Source Beutler Lab
Gene Symbol Rps6kb2
Ensembl Gene ENSMUSG00000024830
Gene Name ribosomal protein S6 kinase, polypeptide 2
Synonyms S6K2
MMRRC Submission 038916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R0735 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4206791-4213382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4207882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 348 (S348I)
Ref Sequence ENSEMBL: ENSMUSP00000025749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000025749] [ENSMUST00000061086] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000137431] [ENSMUST00000130469]
AlphaFold Q9Z1M4
Predicted Effect probably benign
Transcript: ENSMUST00000008893
SMART Domains Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835

DomainStartEndE-ValueType
DUF1899 5 69 1.48e-37 SMART
WD40 68 111 2.1e-7 SMART
WD40 121 161 1.44e-5 SMART
WD40 164 204 4.08e-5 SMART
DUF1900 258 392 6.41e-88 SMART
coiled coil region 445 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025749
AA Change: S348I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
AA Change: S348I

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
S_TKc 67 328 2.56e-103 SMART
S_TK_X 329 391 2.6e-26 SMART
low complexity region 406 421 N/A INTRINSIC
low complexity region 428 485 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061086
SMART Domains Protein: ENSMUSP00000053412
Gene: ENSMUSG00000045826

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
Pfam:PTPRCAP 58 197 8.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118483
AA Change: S348I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830
AA Change: S348I

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
S_TKc 67 328 2.56e-103 SMART
S_TK_X 329 384 1.69e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125057
Predicted Effect probably benign
Transcript: ENSMUST00000127605
SMART Domains Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
S_TKc 67 304 1.6e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135911
Predicted Effect probably benign
Transcript: ENSMUST00000137431
SMART Domains Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Pfam:Pkinase_Tyr 67 277 4.6e-31 PFAM
Pfam:Pkinase 67 278 2.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130469
SMART Domains Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Pfam:Pkinase 67 153 2.7e-14 PFAM
Pfam:Pkinase_Tyr 67 153 9.8e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 91.8%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,711,669 (GRCm39) M405K probably benign Het
Adam10 G A 9: 70,655,533 (GRCm39) V334I possibly damaging Het
Adgra2 G T 8: 27,607,346 (GRCm39) G686C probably damaging Het
Akap11 A T 14: 78,747,518 (GRCm39) I1623N probably damaging Het
Astn1 A T 1: 158,299,959 (GRCm39) T100S possibly damaging Het
B3galt1 A C 2: 67,948,923 (GRCm39) I213L possibly damaging Het
B4galnt4 A G 7: 140,644,236 (GRCm39) K101E probably benign Het
Brd10 A T 19: 29,695,038 (GRCm39) I1552K possibly damaging Het
Camsap2 A G 1: 136,220,626 (GRCm39) S324P probably damaging Het
Chrnb4 A G 9: 54,951,084 (GRCm39) S60P probably damaging Het
Cpne1 A G 2: 155,920,670 (GRCm39) probably null Het
Cubn G A 2: 13,496,500 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cxcl15 T C 5: 90,949,153 (GRCm39) M106T probably benign Het
Cyp2c23 A T 19: 44,005,249 (GRCm39) M140K probably damaging Het
Dgke A G 11: 88,950,901 (GRCm39) F104S probably benign Het
Dhx36 T A 3: 62,380,150 (GRCm39) M849L probably benign Het
Dnah7a C T 1: 53,583,670 (GRCm39) E1522K possibly damaging Het
Edil3 G T 13: 89,325,297 (GRCm39) V219F probably damaging Het
Egln1 A G 8: 125,675,234 (GRCm39) V187A possibly damaging Het
Fam193a T C 5: 34,596,722 (GRCm39) I455T possibly damaging Het
Fdft1 A T 14: 63,400,869 (GRCm39) I88N probably damaging Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Frs2 T A 10: 116,910,487 (GRCm39) S292C probably damaging Het
Gpr107 T A 2: 31,062,006 (GRCm39) F145I probably benign Het
Gpr153 T A 4: 152,363,830 (GRCm39) C83* probably null Het
H2-Q7 T G 17: 35,659,162 (GRCm39) probably null Het
Hsp90b1 A T 10: 86,531,612 (GRCm39) probably benign Het
Kcnk1 C A 8: 126,752,028 (GRCm39) N211K probably damaging Het
Klb T C 5: 65,537,070 (GRCm39) V800A probably benign Het
Lat2 T C 5: 134,635,637 (GRCm39) Y59C probably damaging Het
Mlkl A T 8: 112,054,433 (GRCm39) probably benign Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtbp T A 15: 55,426,338 (GRCm39) C93* probably null Het
Myo7a A G 7: 97,730,387 (GRCm39) probably benign Het
Myt1 G A 2: 181,449,180 (GRCm39) probably benign Het
Ogfrl1 T C 1: 23,414,835 (GRCm39) Q224R possibly damaging Het
Or10j2 A G 1: 173,098,569 (GRCm39) T276A probably benign Het
Or56b2 A T 7: 104,338,026 (GRCm39) H268L probably damaging Het
Osbpl2 A G 2: 179,792,083 (GRCm39) probably benign Het
Pira13 T C 7: 3,824,781 (GRCm39) T533A possibly damaging Het
Plb1 C T 5: 32,442,264 (GRCm39) T252M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn T C 6: 92,166,674 (GRCm39) T657A probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rsrp1 C T 4: 134,651,568 (GRCm39) R111W unknown Het
Ryr3 T C 2: 112,563,327 (GRCm39) T2933A probably benign Het
Scara5 A G 14: 65,968,468 (GRCm39) D247G possibly damaging Het
Slc7a11 C T 3: 50,378,545 (GRCm39) S231N probably benign Het
Sod2 A T 17: 13,229,451 (GRCm39) N91Y probably damaging Het
Spesp1 A T 9: 62,179,967 (GRCm39) S314T probably benign Het
St3gal1 C A 15: 66,985,536 (GRCm39) M39I probably benign Het
Stat6 A T 10: 127,494,110 (GRCm39) I646F probably damaging Het
Tdrd1 A T 19: 56,854,410 (GRCm39) K1119* probably null Het
Thbs2 A G 17: 14,900,077 (GRCm39) I600T probably benign Het
Tor1a A G 2: 30,853,850 (GRCm39) V160A probably damaging Het
Trdmt1 T G 2: 13,528,249 (GRCm39) D104A probably benign Het
Trim58 T C 11: 58,542,219 (GRCm39) V393A probably benign Het
Trip4 C T 9: 65,792,200 (GRCm39) probably benign Het
Trip6 T C 5: 137,309,083 (GRCm39) E341G probably benign Het
Ttn T A 2: 76,545,539 (GRCm39) I32595F probably damaging Het
Ubr4 T A 4: 139,155,339 (GRCm39) probably null Het
Ush2a G A 1: 188,596,890 (GRCm39) V3877I probably benign Het
Vmn1r29 G T 6: 58,284,717 (GRCm39) G146C probably damaging Het
Vmn2r53 A G 7: 12,315,707 (GRCm39) V704A probably benign Het
Vmn2r7 C T 3: 64,623,788 (GRCm39) M268I probably benign Het
Wnt7b G A 15: 85,421,696 (GRCm39) T248M probably damaging Het
Xab2 G A 8: 3,663,649 (GRCm39) P394S possibly damaging Het
Zfp663 A G 2: 165,200,995 (GRCm39) V13A probably damaging Het
Other mutations in Rps6kb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Rps6kb2 APN 19 4,207,587 (GRCm39) missense probably damaging 1.00
R2034:Rps6kb2 UTSW 19 4,211,106 (GRCm39) missense probably damaging 1.00
R4803:Rps6kb2 UTSW 19 4,208,677 (GRCm39) nonsense probably null
R4909:Rps6kb2 UTSW 19 4,207,002 (GRCm39) utr 3 prime probably benign
R5070:Rps6kb2 UTSW 19 4,213,227 (GRCm39) missense probably damaging 1.00
R5635:Rps6kb2 UTSW 19 4,211,133 (GRCm39) missense probably damaging 1.00
R6080:Rps6kb2 UTSW 19 4,208,671 (GRCm39) missense probably benign 0.22
R6284:Rps6kb2 UTSW 19 4,211,186 (GRCm39) missense probably benign 0.17
R6600:Rps6kb2 UTSW 19 4,208,850 (GRCm39) missense probably damaging 1.00
R7649:Rps6kb2 UTSW 19 4,207,020 (GRCm39) missense unknown
R8248:Rps6kb2 UTSW 19 4,206,987 (GRCm39) splice site probably benign
R8261:Rps6kb2 UTSW 19 4,211,195 (GRCm39) missense possibly damaging 0.85
R8532:Rps6kb2 UTSW 19 4,209,243 (GRCm39) missense probably damaging 1.00
R8807:Rps6kb2 UTSW 19 4,213,229 (GRCm39) missense probably damaging 1.00
R8838:Rps6kb2 UTSW 19 4,211,183 (GRCm39) missense probably damaging 0.99
R9086:Rps6kb2 UTSW 19 4,209,270 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTACAATCCTTCGGTCCCCATAAC -3'
(R):5'- ATGCTGCTGATGTCCAGGTGAGTC -3'

Sequencing Primer
(F):5'- CACCAGGAAGGCTTGGTTG -3'
(R):5'- AGTCTGGTTATGTCACAGTGAAC -3'
Posted On 2013-09-03