Incidental Mutation 'IGL02192:Rps6kb2'
ID 283894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6kb2
Ensembl Gene ENSMUSG00000024830
Gene Name ribosomal protein S6 kinase, polypeptide 2
Synonyms S6K2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02192
Quality Score
Status
Chromosome 19
Chromosomal Location 4206791-4213382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4207587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 388 (T388A)
Ref Sequence ENSEMBL: ENSMUSP00000025749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000025749] [ENSMUST00000061086] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431]
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 damaging
Transcript: ENSMUST00000025749
AA Change: T388A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
AA Change: T388A

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
SMART Domains Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830

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 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140419
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
Coding Region Coverage
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,825 (GRCm39) M545K possibly damaging Het
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Anxa13 A T 15: 58,220,628 (GRCm39) noncoding transcript Het
Ap2b1 C T 11: 83,237,592 (GRCm39) T552I possibly damaging Het
Cars1 T C 7: 143,125,325 (GRCm39) S388G probably damaging Het
Cdh18 A T 15: 23,460,402 (GRCm39) D544V probably damaging Het
Chat T C 14: 32,145,279 (GRCm39) R377G possibly damaging Het
Col14a1 A G 15: 55,225,798 (GRCm39) T154A unknown Het
Col9a1 C T 1: 24,261,068 (GRCm39) P311S probably damaging Het
Cpsf3 G T 12: 21,360,194 (GRCm39) probably benign Het
Cpsf3 G T 12: 21,360,197 (GRCm39) probably null Het
Dock8 T C 19: 25,055,569 (GRCm39) probably null Het
Eml6 A G 11: 29,755,743 (GRCm39) I837T probably benign Het
Epb41 T C 4: 131,657,028 (GRCm39) T792A probably damaging Het
Exph5 A T 9: 53,287,625 (GRCm39) R1569* probably null Het
F13b A T 1: 139,445,071 (GRCm39) T574S probably damaging Het
Fam184b G T 5: 45,695,062 (GRCm39) D727E probably benign Het
Fhip1a A G 3: 85,580,633 (GRCm39) L524P possibly damaging Het
Fhod3 T C 18: 25,189,415 (GRCm39) L619P probably damaging Het
Fsd1l A G 4: 53,647,754 (GRCm39) I66V probably benign Het
Fv1 A G 4: 147,954,712 (GRCm39) D426G possibly damaging Het
Gm3371 A T 14: 44,641,235 (GRCm39) probably benign Het
Hnf1a A T 5: 115,098,177 (GRCm39) S142T probably damaging Het
Itgb3 A G 11: 104,534,765 (GRCm39) I541V probably benign Het
Itgbl1 G T 14: 124,081,338 (GRCm39) C239F probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Larp1b G T 3: 40,921,929 (GRCm39) S116I probably benign Het
Lmtk3 A G 7: 45,443,933 (GRCm39) probably benign Het
Mapk10 T C 5: 103,137,513 (GRCm39) I235V probably damaging Het
Mctp1 C T 13: 76,879,887 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,285 (GRCm39) D1819N probably damaging Het
Muc6 T C 7: 141,217,717 (GRCm39) T2254A possibly damaging Het
Nbr1 T A 11: 101,460,417 (GRCm39) S444T probably damaging Het
Ncor2 A T 5: 125,101,301 (GRCm39) D1956E probably damaging Het
Ndufaf5 T C 2: 140,030,663 (GRCm39) V183A probably benign Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Npy5r T A 8: 67,133,998 (GRCm39) H265L probably benign Het
Or10j2 T A 1: 173,098,417 (GRCm39) L225H probably damaging Het
Or8k16 G A 2: 85,520,472 (GRCm39) G233D possibly damaging Het
Pop1 A G 15: 34,529,217 (GRCm39) E749G probably benign Het
Ppil3 T C 1: 58,477,547 (GRCm39) I66V probably damaging Het
Prl4a1 C A 13: 28,202,554 (GRCm39) T43K possibly damaging Het
Prop1 A G 11: 50,844,113 (GRCm39) probably benign Het
Qrsl1 A T 10: 43,761,010 (GRCm39) I218N probably damaging Het
Rbm22 T A 18: 60,697,484 (GRCm39) M63K possibly damaging Het
Rictor T C 15: 6,815,895 (GRCm39) S1056P probably benign Het
Slc7a5 A G 8: 122,613,129 (GRCm39) probably benign Het
Sp100 A T 1: 85,635,722 (GRCm39) D509V probably damaging Het
Spata18 G T 5: 73,829,861 (GRCm39) probably null Het
Sspo C A 6: 48,436,502 (GRCm39) T1254K possibly damaging Het
Stk19 A G 17: 35,051,134 (GRCm39) probably benign Het
Taar8b T A 10: 23,967,262 (GRCm39) I311F probably damaging Het
Themis2 C A 4: 132,510,658 (GRCm39) probably null Het
Tll2 T C 19: 41,074,702 (GRCm39) Y937C possibly damaging Het
Trim34a T A 7: 103,896,939 (GRCm39) M1K probably null Het
Usp50 G A 2: 126,619,958 (GRCm39) T118I possibly damaging Het
Vps13d G A 4: 144,875,428 (GRCm39) S1693F probably benign Het
Vps16 T A 2: 130,282,852 (GRCm39) I467N probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Rps6kb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0735:Rps6kb2 UTSW 19 4,207,882 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16