Incidental Mutation 'IGL03037:Rps6ka2'
ID408761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6ka2
Ensembl Gene ENSMUSG00000023809
Gene Nameribosomal protein S6 kinase, polypeptide 2
SynonymsRps6ka-rs1, pp90rsk, p90rsk, D17Wsu134e, 90kDa, Rsk3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.525) question?
Stock #IGL03037
Quality Score
Status
Chromosome17
Chromosomal Location7170115-7303315 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 7254450 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024575] [ENSMUST00000232527]
Predicted Effect probably null
Transcript: ENSMUST00000024575
SMART Domains Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809

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 noncoding transcript
Transcript: ENSMUST00000232136
Predicted Effect probably null
Transcript: ENSMUST00000232527
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 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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,969,208 S2229P probably damaging Het
4932438A13Rik C A 3: 36,969,207 S2227R probably benign Het
Actl11 T C 9: 107,930,095 L539P probably damaging Het
Adam23 A T 1: 63,571,017 Q726L possibly damaging Het
Ago1 T C 4: 126,461,794 E74G probably benign Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cadm4 T A 7: 24,500,795 L243Q probably damaging Het
Camsap2 C A 1: 136,274,857 L1274F probably damaging Het
Car10 A G 11: 93,100,218 probably benign Het
Catsperd A T 17: 56,641,583 D186V possibly damaging Het
Cdc42bpg A G 19: 6,311,200 Y285C probably damaging Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Cln8 A T 8: 14,894,679 probably benign Het
Cnksr1 T C 4: 134,235,106 probably null Het
Ddx5 T C 11: 106,782,104 N532D possibly damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Dock8 A G 19: 25,086,181 E249G probably benign Het
Espnl T C 1: 91,341,921 V393A probably benign Het
Fam160a2 A T 7: 105,379,086 H885Q probably benign Het
Frrs1 T C 3: 116,902,467 probably benign Het
Fstl4 C A 11: 53,168,223 A503D possibly damaging Het
Gda T A 19: 21,434,309 I42L possibly damaging Het
Gprc5d C A 6: 135,116,321 C196F probably damaging Het
Hnrnpa0 A G 13: 58,127,953 F121L probably damaging Het
Hsd3b7 C T 7: 127,801,150 H24Y probably damaging Het
Ift140 T C 17: 25,092,394 S1188P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mmp16 C T 4: 17,996,222 P104S probably damaging Het
Mpst C A 15: 78,410,598 R177S probably benign Het
Nek1 A T 8: 61,034,052 T279S probably benign Het
Olfr1201 A G 2: 88,794,955 Y191C probably damaging Het
Olfr357 C T 2: 36,997,548 T246I probably benign Het
Olfr54 A T 11: 51,027,290 Y96F probably damaging Het
Olfr830 T A 9: 18,875,372 I12N probably damaging Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pik3r4 A G 9: 105,650,813 D455G probably damaging Het
Piwil4 T C 9: 14,705,012 I756V possibly damaging Het
Pkhd1 A G 1: 20,522,699 L1730P probably benign Het
Pnpla3 T C 15: 84,172,759 I155T probably damaging Het
Prmt8 T C 6: 127,703,977 Y243C possibly damaging Het
Rbfox1 T A 16: 7,292,283 probably benign Het
Scaf8 A G 17: 3,190,221 K623E probably damaging Het
Slc26a4 A T 12: 31,531,687 probably benign Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Smarca4 T C 9: 21,632,935 probably benign Het
Sos1 T C 17: 80,420,329 D775G probably damaging Het
Spag17 G A 3: 100,072,170 probably null Het
Spata31d1d T A 13: 59,726,133 E1196V possibly damaging Het
Sqle T A 15: 59,321,397 Y208N probably damaging Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tdgf1 C A 9: 110,943,220 W36L probably benign Het
Tenm3 A G 8: 48,298,878 F959L possibly damaging Het
Tnfrsf19 T A 14: 61,024,272 K26I possibly damaging Het
Trappc10 A T 10: 78,199,035 probably benign Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Trpm3 A G 19: 22,889,412 T536A possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Uaca A G 9: 60,840,865 D37G probably damaging Het
Ube3a T C 7: 59,247,223 probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Ugp2 T A 11: 21,332,540 K151* probably null Het
Wasf1 A G 10: 40,930,658 K99R probably benign Het
Wnt4 C T 4: 137,289,161 T42M possibly damaging Het
Zfp54 T A 17: 21,430,215 D17E probably damaging Het
Other mutations in Rps6ka2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Rps6ka2 APN 17 7236124 missense probably benign 0.02
IGL02199:Rps6ka2 APN 17 7254453 splice site probably benign
IGL02458:Rps6ka2 APN 17 7289003 missense probably benign 0.04
IGL02532:Rps6ka2 APN 17 7255966 missense probably damaging 1.00
IGL02741:Rps6ka2 APN 17 7296016 missense probably benign 0.22
IGL02860:Rps6ka2 APN 17 7282856 missense possibly damaging 0.68
IGL02948:Rps6ka2 APN 17 7254450 critical splice donor site probably null
IGL03085:Rps6ka2 APN 17 7295280 critical splice donor site probably null
IGL03302:Rps6ka2 APN 17 7299388 missense possibly damaging 0.83
IGL03303:Rps6ka2 APN 17 7228012 nonsense probably null
R0083:Rps6ka2 UTSW 17 7296043 missense probably benign 0.33
R0108:Rps6ka2 UTSW 17 7296043 missense probably benign 0.33
R0145:Rps6ka2 UTSW 17 7262186 missense probably benign 0.09
R0257:Rps6ka2 UTSW 17 7227983 missense probably damaging 1.00
R0355:Rps6ka2 UTSW 17 7271610 missense probably benign 0.03
R0563:Rps6ka2 UTSW 17 7254437 missense probably damaging 1.00
R1065:Rps6ka2 UTSW 17 7281758 splice site probably benign
R1465:Rps6ka2 UTSW 17 7292867 missense probably damaging 1.00
R1465:Rps6ka2 UTSW 17 7292867 missense probably damaging 1.00
R1540:Rps6ka2 UTSW 17 7292906 missense probably null 1.00
R1708:Rps6ka2 UTSW 17 7277530 missense probably damaging 0.99
R2418:Rps6ka2 UTSW 17 7299339 missense possibly damaging 0.76
R2697:Rps6ka2 UTSW 17 7300322 missense probably benign 0.07
R4427:Rps6ka2 UTSW 17 7299405 missense possibly damaging 0.90
R4753:Rps6ka2 UTSW 17 7299308 missense possibly damaging 0.86
R4951:Rps6ka2 UTSW 17 7292789 missense probably damaging 1.00
R4954:Rps6ka2 UTSW 17 7271604 missense probably benign 0.00
R4954:Rps6ka2 UTSW 17 7299286 missense probably benign
R6298:Rps6ka2 UTSW 17 7170367 missense possibly damaging 0.92
R6800:Rps6ka2 UTSW 17 7251636 missense probably damaging 1.00
R6905:Rps6ka2 UTSW 17 7227941 missense probably damaging 1.00
R6952:Rps6ka2 UTSW 17 7227978 missense probably benign 0.00
R7014:Rps6ka2 UTSW 17 7255932 missense probably benign 0.29
R7268:Rps6ka2 UTSW 17 7295263 missense possibly damaging 0.80
Posted On2016-08-02