Incidental Mutation 'R7649:Rps6kb2'
ID 590724
Institutional Source Beutler Lab
Gene Symbol Rps6kb2
Ensembl Gene ENSMUSG00000024830
Gene Name ribosomal protein S6 kinase, polypeptide 2
Synonyms S6K2
MMRRC Submission 045646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7649 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4206791-4213382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4207020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 483 (S483P)
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 unknown
Transcript: ENSMUST00000025749
AA Change: S483P
SMART Domains Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
AA Change: S483P

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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,053,364 (GRCm39) V319A probably benign Het
Adam28 T A 14: 68,872,282 (GRCm39) Y320F probably benign Het
Adam4 T C 12: 81,467,151 (GRCm39) Y490C probably damaging Het
Ampd3 G T 7: 110,377,049 (GRCm39) L13F probably benign Het
Arhgap45 C A 10: 79,866,835 (GRCm39) Q1113K probably benign Het
Arid5b T C 10: 67,954,175 (GRCm39) T370A possibly damaging Het
Arl15 A G 13: 114,104,208 (GRCm39) D115G possibly damaging Het
AW146154 G A 7: 41,130,156 (GRCm39) T320I probably benign Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chchd4 C T 6: 91,444,754 (GRCm39) R11Q probably benign Het
Clta T G 4: 44,025,494 (GRCm39) I140R possibly damaging Het
Cnpy1 T C 5: 28,412,282 (GRCm39) T84A probably benign Het
Cpne5 T C 17: 29,445,172 (GRCm39) D44G probably damaging Het
Crkl T C 16: 17,270,366 (GRCm39) S9P unknown Het
Csmd3 T C 15: 47,532,539 (GRCm39) D1641G Het
Ctnnd2 A G 15: 31,027,630 (GRCm39) T1185A probably benign Het
Dlc1 A T 8: 37,049,894 (GRCm39) L607Q probably damaging Het
Dpy19l2 T C 9: 24,607,459 (GRCm39) M1V probably null Het
Dst T C 1: 34,206,778 (GRCm39) V982A probably benign Het
Fam135b T C 15: 71,334,429 (GRCm39) I922V probably benign Het
Fbxl13 T C 5: 21,819,664 (GRCm39) E245G probably benign Het
Fcgbp T C 7: 27,790,928 (GRCm39) S730P possibly damaging Het
Ggt1 T C 10: 75,421,290 (GRCm39) V468A possibly damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Herpud2 T C 9: 25,021,902 (GRCm39) E248G possibly damaging Het
Il17rd C A 14: 26,761,167 (GRCm39) A36E probably benign Het
Irf2bpl T C 12: 86,929,572 (GRCm39) Y367C possibly damaging Het
Lama1 T A 17: 68,044,549 (GRCm39) D149E Het
Lipf A T 19: 33,943,098 (GRCm39) E135D possibly damaging Het
Manea T A 4: 26,328,234 (GRCm39) D269V probably damaging Het
Megf6 A G 4: 154,349,542 (GRCm39) Y910C probably damaging Het
Mical3 G A 6: 120,911,909 (GRCm39) R1928W probably damaging Het
Or13c3 G A 4: 52,855,692 (GRCm39) Q274* probably null Het
Or5b108 T A 19: 13,168,136 (GRCm39) I35N possibly damaging Het
Plch1 G T 3: 63,605,590 (GRCm39) S1438* probably null Het
Por T C 5: 135,763,359 (GRCm39) F595L probably damaging Het
Prkcg G A 7: 3,378,480 (GRCm39) R634H probably benign Het
Prr14l C T 5: 32,985,589 (GRCm39) G1302D probably benign Het
Rcan3 A T 4: 135,139,799 (GRCm39) S135T probably benign Het
Rnf223 A G 4: 156,216,660 (GRCm39) M12V probably benign Het
Sacs T A 14: 61,440,677 (GRCm39) F908I possibly damaging Het
Slc4a9 A G 18: 36,661,430 (GRCm39) Q64R probably benign Het
Slco4c1 T A 1: 96,756,667 (GRCm39) I552F probably benign Het
Sppl2b C T 10: 80,703,253 (GRCm39) P505L probably benign Het
Sptbn4 A G 7: 27,061,002 (GRCm39) S2434P possibly damaging Het
Ssh1 A T 5: 114,088,612 (GRCm39) M395K probably benign Het
Stk10 A T 11: 32,527,764 (GRCm39) I171F Het
Tmx3 C T 18: 90,558,154 (GRCm39) A402V probably damaging Het
Tnfrsf13c T C 15: 82,108,341 (GRCm39) D58G possibly damaging Het
Tnk1 T C 11: 69,744,403 (GRCm39) probably null Het
Trav14n-3 A T 14: 53,607,951 (GRCm39) N94Y probably damaging Het
Trav5-4 A T 14: 53,941,902 (GRCm39) K92* probably null Het
Tsga10 C T 1: 37,874,229 (GRCm39) R190H unknown Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfhx4 A G 3: 5,307,170 (GRCm39) Y132C probably damaging Het
Zfp521 T C 18: 13,977,413 (GRCm39) E1000G probably damaging Het
Other mutations in Rps6kb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Rps6kb2 APN 19 4,207,587 (GRCm39) missense probably damaging 1.00
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
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'- CAAGTCCCTTCTAATGGGATGGG -3'
(R):5'- AGTATTACTGACCAGGCCCG -3'

Sequencing Primer
(F):5'- CCCTTCTAATGGGATGGGGGTTG -3'
(R):5'- GCAGCCCCCTCAAGTTC -3'
Posted On 2019-10-24