Incidental Mutation 'R0257:Rps6ka2'
ID 34808
Institutional Source Beutler Lab
Gene Symbol Rps6ka2
Ensembl Gene ENSMUSG00000023809
Gene Name ribosomal protein S6 kinase, polypeptide 2
Synonyms Rsk3, Rps6ka-rs1, D17Wsu134e, 90kDa, pp90rsk, p90rsk
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R0257 (G1)
Quality Score 211
Status Validated
Chromosome 17
Chromosomal Location 7437514-7570714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7495382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 57 (S57Y)
Ref Sequence ENSEMBL: ENSMUSP00000024575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024575] [ENSMUST00000232527]
AlphaFold Q9WUT3
Predicted Effect probably damaging
Transcript: ENSMUST00000024575
AA Change: S57Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: S57Y

DomainStartEndE-ValueType
low complexity region 18 35 N/A INTRINSIC
S_TKc 59 318 6.25e-107 SMART
S_TK_X 319 380 3.36e-20 SMART
S_TKc 415 672 1.84e-104 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000232527
AA Change: S23Y

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.4534 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
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 two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased response of heart to stress following transverse aortic constriction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,401,107 (GRCm39) E171D probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Ahsg A T 16: 22,717,790 (GRCm39) M256L probably benign Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Ano2 C A 6: 125,857,676 (GRCm39) A505E probably benign Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm39) T179A probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,728 (GRCm39) I894V possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm39) A131V probably damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Rps6ka2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Rps6ka2 APN 17 7,503,523 (GRCm39) missense probably benign 0.02
IGL02199:Rps6ka2 APN 17 7,521,852 (GRCm39) splice site probably benign
IGL02458:Rps6ka2 APN 17 7,556,402 (GRCm39) missense probably benign 0.04
IGL02532:Rps6ka2 APN 17 7,523,365 (GRCm39) missense probably damaging 1.00
IGL02741:Rps6ka2 APN 17 7,563,415 (GRCm39) missense probably benign 0.22
IGL02860:Rps6ka2 APN 17 7,550,255 (GRCm39) missense possibly damaging 0.68
IGL02948:Rps6ka2 APN 17 7,521,849 (GRCm39) critical splice donor site probably null
IGL03037:Rps6ka2 APN 17 7,521,849 (GRCm39) critical splice donor site probably null
IGL03085:Rps6ka2 APN 17 7,562,679 (GRCm39) critical splice donor site probably null
IGL03302:Rps6ka2 APN 17 7,566,787 (GRCm39) missense possibly damaging 0.83
IGL03303:Rps6ka2 APN 17 7,495,411 (GRCm39) nonsense probably null
R0083:Rps6ka2 UTSW 17 7,563,442 (GRCm39) missense probably benign 0.33
R0108:Rps6ka2 UTSW 17 7,563,442 (GRCm39) missense probably benign 0.33
R0145:Rps6ka2 UTSW 17 7,529,585 (GRCm39) missense probably benign 0.09
R0355:Rps6ka2 UTSW 17 7,539,009 (GRCm39) missense probably benign 0.03
R0563:Rps6ka2 UTSW 17 7,521,836 (GRCm39) missense probably damaging 1.00
R1065:Rps6ka2 UTSW 17 7,549,157 (GRCm39) splice site probably benign
R1465:Rps6ka2 UTSW 17 7,560,266 (GRCm39) missense probably damaging 1.00
R1465:Rps6ka2 UTSW 17 7,560,266 (GRCm39) missense probably damaging 1.00
R1540:Rps6ka2 UTSW 17 7,560,305 (GRCm39) missense probably null 1.00
R1708:Rps6ka2 UTSW 17 7,544,929 (GRCm39) missense probably damaging 0.99
R2418:Rps6ka2 UTSW 17 7,566,738 (GRCm39) missense possibly damaging 0.76
R2697:Rps6ka2 UTSW 17 7,567,721 (GRCm39) missense probably benign 0.07
R4427:Rps6ka2 UTSW 17 7,566,804 (GRCm39) missense possibly damaging 0.90
R4753:Rps6ka2 UTSW 17 7,566,707 (GRCm39) missense possibly damaging 0.86
R4951:Rps6ka2 UTSW 17 7,560,188 (GRCm39) missense probably damaging 1.00
R4954:Rps6ka2 UTSW 17 7,566,685 (GRCm39) missense probably benign
R4954:Rps6ka2 UTSW 17 7,539,003 (GRCm39) missense probably benign 0.00
R6298:Rps6ka2 UTSW 17 7,437,766 (GRCm39) missense possibly damaging 0.92
R6800:Rps6ka2 UTSW 17 7,519,035 (GRCm39) missense probably damaging 1.00
R6905:Rps6ka2 UTSW 17 7,495,340 (GRCm39) missense probably damaging 1.00
R6952:Rps6ka2 UTSW 17 7,495,377 (GRCm39) missense probably benign 0.00
R7014:Rps6ka2 UTSW 17 7,523,331 (GRCm39) missense probably benign 0.29
R7268:Rps6ka2 UTSW 17 7,562,662 (GRCm39) missense possibly damaging 0.80
R7278:Rps6ka2 UTSW 17 7,539,034 (GRCm39) missense probably damaging 1.00
R7476:Rps6ka2 UTSW 17 7,539,032 (GRCm39) missense probably damaging 1.00
R7754:Rps6ka2 UTSW 17 7,544,848 (GRCm39) splice site probably null
R8124:Rps6ka2 UTSW 17 7,549,228 (GRCm39) missense possibly damaging 0.95
R8353:Rps6ka2 UTSW 17 7,514,151 (GRCm39) missense probably benign 0.02
R8453:Rps6ka2 UTSW 17 7,514,151 (GRCm39) missense probably benign 0.02
R8558:Rps6ka2 UTSW 17 7,523,316 (GRCm39) missense possibly damaging 0.93
R9047:Rps6ka2 UTSW 17 7,567,678 (GRCm39) missense probably damaging 0.99
R9142:Rps6ka2 UTSW 17 7,437,793 (GRCm39) missense probably damaging 0.99
Z1177:Rps6ka2 UTSW 17 7,558,134 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGACACAGATCATGTCCTGGCCC -3'
(R):5'- TCACGATTCTGACAATCACAGGCTC -3'

Sequencing Primer
(F):5'- GGAATACAATCAGATGTCCCTGTG -3'
(R):5'- TCAACTAATGTGGGCAGTTCC -3'
Posted On 2013-05-09