Incidental Mutation 'IGL02860:Rps6ka2'
ID 362123
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 # IGL02860
Quality Score
Status
Chromosome 17
Chromosomal Location 7437514-7570714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7550255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 440 (E440G)
Ref Sequence ENSEMBL: ENSMUSP00000024575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024575]
AlphaFold Q9WUT3
Predicted Effect possibly damaging
Transcript: ENSMUST00000024575
AA Change: E440G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: E440G

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: ENSMUST00000231530
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,073,915 (GRCm39) M832L probably benign Het
Cars1 A T 7: 143,140,158 (GRCm39) D99E probably damaging Het
Ccdc112 A G 18: 46,420,509 (GRCm39) F414L probably benign Het
Chst15 C T 7: 131,870,831 (GRCm39) V235I probably benign Het
Dysf G T 6: 84,167,880 (GRCm39) probably null Het
Elavl2 T C 4: 91,149,190 (GRCm39) D174G probably damaging Het
Gapdhs T A 7: 30,429,308 (GRCm39) probably null Het
Gnb1l G A 16: 18,371,285 (GRCm39) G259R probably damaging Het
Ighv9-2 T G 12: 114,072,857 (GRCm39) I39L possibly damaging Het
Kntc1 T A 5: 123,907,936 (GRCm39) N474K possibly damaging Het
Lrrc8c T C 5: 105,727,481 (GRCm39) probably benign Het
Lyn C T 4: 3,745,594 (GRCm39) A131V possibly damaging Het
Mindy2 T C 9: 70,563,826 (GRCm39) E168G probably damaging Het
Morc2a T C 11: 3,611,821 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nell1 A T 7: 50,498,233 (GRCm39) I597F probably damaging Het
Nudt12 T A 17: 59,317,430 (GRCm39) R72S probably benign Het
Pan2 C T 10: 128,146,604 (GRCm39) R414* probably null Het
Rb1 T C 14: 73,443,452 (GRCm39) R768G probably damaging Het
Serpinb3a C T 1: 106,977,183 (GRCm39) probably benign Het
Stx8 C A 11: 67,875,391 (GRCm39) T72K probably damaging Het
Tecrl A G 5: 83,502,844 (GRCm39) F2L probably benign Het
Tmem263 C T 10: 84,950,416 (GRCm39) T69I probably damaging Het
Ttc39b T C 4: 83,181,983 (GRCm39) N49D probably benign Het
Ttn A G 2: 76,547,359 (GRCm39) L32229P probably damaging Het
Zfp358 T C 8: 3,546,074 (GRCm39) F219L probably damaging 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
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
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