Incidental Mutation 'R4954:Rps6ka2'
ID 381503
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 042551-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R4954 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 7437514-7570714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7539003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 307 (D307G)
Ref Sequence ENSEMBL: ENSMUSP00000024575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024575]
AlphaFold Q9WUT3
Predicted Effect probably benign
Transcript: ENSMUST00000024575
AA Change: D307G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: D307G

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
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (66/66)
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
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Alk C T 17: 72,209,687 (GRCm39) W919* probably null Het
Aoc3 G A 11: 101,222,925 (GRCm39) G387D probably damaging Het
Arhgap26 T A 18: 39,376,694 (GRCm39) C441S probably benign Het
Arhgap28 C A 17: 68,176,008 (GRCm39) E100* probably null Het
Ate1 C T 7: 130,110,748 (GRCm39) G186D probably benign Het
Birc6 T A 17: 74,919,026 (GRCm39) L1948H probably damaging Het
Bmp2k C T 5: 97,234,623 (GRCm39) probably benign Het
Ccin A T 4: 43,985,077 (GRCm39) I495F probably benign Het
Cir1 T A 2: 73,140,848 (GRCm39) E40D probably benign Het
Cyp3a57 A T 5: 145,307,765 (GRCm39) probably null Het
Dennd1b A G 1: 138,981,124 (GRCm39) T113A probably damaging Het
Dnah2 G A 11: 69,430,322 (GRCm39) P79S possibly damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Dync2i1 T C 12: 116,219,645 (GRCm39) D99G probably damaging Het
Enpep A T 3: 129,077,829 (GRCm39) I596N probably damaging Het
Eps15 G A 4: 109,227,875 (GRCm39) probably null Het
Ext1 T C 15: 53,207,888 (GRCm39) D291G probably damaging Het
Gm12883 T C 4: 121,252,198 (GRCm39) noncoding transcript Het
Gm9921 A G 12: 45,484,383 (GRCm39) noncoding transcript Het
H2-T22 C A 17: 36,352,851 (GRCm39) W85C probably damaging Het
Heatr1 G A 13: 12,422,397 (GRCm39) probably null Het
Hspa4l T A 3: 40,739,832 (GRCm39) probably null Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Kpna1 T C 16: 35,853,696 (GRCm39) V442A probably damaging Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Musk C T 4: 58,344,222 (GRCm39) T285I probably damaging Het
Myorg G A 4: 41,498,241 (GRCm39) A463V possibly damaging Het
Nbea T G 3: 55,943,379 (GRCm39) Q632P probably damaging Het
Ncoa3 T C 2: 165,907,706 (GRCm39) V1105A probably benign Het
Neb T C 2: 52,067,530 (GRCm39) probably null Het
Nlrp4e A T 7: 23,061,318 (GRCm39) K970* probably null Het
Oog2 A T 4: 143,917,302 (GRCm39) probably benign Het
Or13g1 T C 7: 85,955,809 (GRCm39) I171V probably benign Het
Or2a57 A G 6: 43,213,318 (GRCm39) M259V probably benign Het
Or52a24 A G 7: 103,381,414 (GRCm39) I94V probably damaging Het
Otos T C 1: 92,572,167 (GRCm39) Y53C probably damaging Het
Oxct2a A T 4: 123,216,252 (GRCm39) C376* probably null Het
Pate12 A T 9: 36,344,156 (GRCm39) K46N probably benign Het
Phf14 C A 6: 11,987,619 (GRCm39) Q633K probably benign Het
Pkdrej T A 15: 85,700,602 (GRCm39) N1778I probably damaging Het
Psmc3 C T 2: 90,885,974 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,274 (GRCm39) I177F probably damaging Het
Scn11a C T 9: 119,587,725 (GRCm39) V1340M possibly damaging Het
Sema7a T C 9: 57,863,663 (GRCm39) W279R probably damaging Het
Slc2a10 A T 2: 165,356,675 (GRCm39) I112F probably damaging Het
Stk4 C A 2: 163,993,601 (GRCm39) S77R possibly damaging Het
Stk4 T A 2: 163,993,602 (GRCm39) W78R probably damaging Het
Syf2 T A 4: 134,662,283 (GRCm39) L99* probably null Het
Tas2r104 A T 6: 131,661,968 (GRCm39) I247K probably damaging Het
Usp15 G T 10: 122,967,303 (GRCm39) R368S probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r2 T A 3: 64,047,905 (GRCm39) L20F probably benign Het
Zcchc4 A T 5: 52,976,559 (GRCm39) H451L 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
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
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
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'- ACTATGTCTATATCACAGGCCTGG -3'
(R):5'- GACAGCTGTGTTTGTCTCAGAC -3'

Sequencing Primer
(F):5'- TCACAGGCCTGGGAGTCAAAC -3'
(R):5'- TCTCAGACTCTTAGGGCAGACAG -3'
Posted On 2016-04-27