Incidental Mutation 'IGL02948:Rps6ka2'
ID 364863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps6ka2
Ensembl Gene ENSMUSG00000023809
Gene Name ribosomal protein S6 kinase, polypeptide 2
Synonyms Rsk3, Rps6ka-rs1, D17Wsu134e, 90kDa, pp90rsk, p90rsk
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # IGL02948
Quality Score
Status
Chromosome 17
Chromosomal Location 7437514-7570714 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 7521849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024575] [ENSMUST00000232527]
AlphaFold Q9WUT3
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T 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
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
R0257:Rps6ka2 UTSW 17 7,495,382 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-12-18