Incidental Mutation 'R6390:Rps6ka5'
ID 515734
Institutional Source Beutler Lab
Gene Symbol Rps6ka5
Ensembl Gene ENSMUSG00000021180
Gene Name ribosomal protein S6 kinase, polypeptide 5
Synonyms 3110005L17Rik, MSK1, 6330404E13Rik
MMRRC Submission 044539-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6390 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 100514692-100691693 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100537251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 493 (T493K)
Ref Sequence ENSEMBL: ENSMUSP00000152481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043599] [ENSMUST00000222731]
AlphaFold Q8C050
Predicted Effect possibly damaging
Transcript: ENSMUST00000043599
AA Change: T558K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: T558K

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
S_TKc 48 317 1.08e-101 SMART
S_TK_X 318 378 2.45e-13 SMART
S_TKc 425 751 1.1e-75 SMART
low complexity region 812 832 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221246
Predicted Effect unknown
Transcript: ENSMUST00000221356
AA Change: T69K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221379
Predicted Effect probably damaging
Transcript: ENSMUST00000222731
AA Change: T493K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223531
Meta Mutation Damage Score 0.2412 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (29/29)
MGI Phenotype PHENOTYPE: Mice homozygous for a mutant allele exhibit altered response to cocaine including decreased hyperlocomotor activity and sensitization at a lower dose. Mice homozygous for a kinase dead allele exhibit altered experience-dependent synaptic plasticity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg9a G T 1: 75,164,625 (GRCm39) P113Q probably damaging Het
Ccdc150 A G 1: 54,407,176 (GRCm39) D1073G probably benign Het
Cd8a A G 6: 71,350,913 (GRCm39) Y126C probably damaging Het
Cdca8 A G 4: 124,830,168 (GRCm39) M68T probably damaging Het
Cyp2d26 G A 15: 82,676,825 (GRCm39) P174S possibly damaging Het
Dnai3 A G 3: 145,801,143 (GRCm39) L105P probably damaging Het
Esco1 T G 18: 10,567,528 (GRCm39) N311H probably damaging Het
Evx1 A G 6: 52,292,842 (GRCm39) M183V probably benign Het
Fam111a T G 19: 12,565,524 (GRCm39) Y424* probably null Het
Fat4 T C 3: 39,034,529 (GRCm39) I2727T probably damaging Het
Ggt6 T A 11: 72,327,437 (GRCm39) Y107N possibly damaging Het
Habp2 G C 19: 56,295,255 (GRCm39) E49Q possibly damaging Het
Hibadh A C 6: 52,533,474 (GRCm39) L214R probably damaging Het
Ift57 T G 16: 49,582,836 (GRCm39) probably null Het
Irak4 T C 15: 94,459,367 (GRCm39) S328P probably damaging Het
Krtap6-2 A T 16: 89,216,834 (GRCm39) Y44* probably null Het
Lrrc46 T C 11: 96,931,757 (GRCm39) T22A probably damaging Het
Muc2 G T 7: 141,305,883 (GRCm39) V230L probably damaging Het
Ncan T C 8: 70,567,899 (GRCm39) D71G probably benign Het
Nsd2 T C 5: 34,038,525 (GRCm39) S779P probably damaging Het
Slc6a21 A T 7: 44,936,426 (GRCm39) M135L probably benign Het
Sprtn A G 8: 125,629,958 (GRCm39) N417S probably benign Het
Trim61 T A 8: 65,466,842 (GRCm39) M140L probably benign Het
Vars1 C A 17: 35,234,615 (GRCm39) A1148E probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r112 T C 17: 22,824,230 (GRCm39) V495A probably benign Het
Vmn2r117 A T 17: 23,679,088 (GRCm39) V712E possibly damaging Het
Wdfy4 T C 14: 32,826,051 (GRCm39) D1200G probably damaging Het
Zbtb6 A T 2: 37,318,690 (GRCm39) S413T probably benign Het
Zp2 G T 7: 119,740,453 (GRCm39) N170K probably benign Het
Other mutations in Rps6ka5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Rps6ka5 APN 12 100,540,157 (GRCm39) missense probably benign
IGL01450:Rps6ka5 APN 12 100,519,250 (GRCm39) splice site probably benign
IGL01586:Rps6ka5 APN 12 100,537,173 (GRCm39) missense probably damaging 0.99
IGL01743:Rps6ka5 APN 12 100,541,892 (GRCm39) critical splice donor site probably null
IGL02995:Rps6ka5 APN 12 100,540,258 (GRCm39) intron probably benign
IGL03051:Rps6ka5 APN 12 100,582,250 (GRCm39) splice site probably null
IGL03190:Rps6ka5 APN 12 100,524,907 (GRCm39) splice site probably benign
chard UTSW 12 100,582,342 (GRCm39) missense probably damaging 1.00
Ramp UTSW 12 100,541,964 (GRCm39) missense possibly damaging 0.85
zwiebel UTSW 12 100,644,797 (GRCm39) missense probably damaging 0.99
R0055:Rps6ka5 UTSW 12 100,644,839 (GRCm39) missense probably damaging 0.97
R0055:Rps6ka5 UTSW 12 100,644,839 (GRCm39) missense probably damaging 0.97
R0067:Rps6ka5 UTSW 12 100,582,342 (GRCm39) missense probably damaging 1.00
R0212:Rps6ka5 UTSW 12 100,519,428 (GRCm39) splice site probably null
R0761:Rps6ka5 UTSW 12 100,537,141 (GRCm39) missense probably damaging 1.00
R0893:Rps6ka5 UTSW 12 100,540,697 (GRCm39) missense possibly damaging 0.71
R1237:Rps6ka5 UTSW 12 100,541,964 (GRCm39) missense possibly damaging 0.85
R1254:Rps6ka5 UTSW 12 100,585,788 (GRCm39) missense probably damaging 1.00
R1447:Rps6ka5 UTSW 12 100,544,084 (GRCm39) missense probably benign 0.02
R1611:Rps6ka5 UTSW 12 100,537,111 (GRCm39) missense possibly damaging 0.77
R2086:Rps6ka5 UTSW 12 100,585,874 (GRCm39) missense possibly damaging 0.67
R2129:Rps6ka5 UTSW 12 100,644,797 (GRCm39) missense probably damaging 0.99
R2298:Rps6ka5 UTSW 12 100,517,713 (GRCm39) missense probably damaging 0.99
R2432:Rps6ka5 UTSW 12 100,520,664 (GRCm39) missense probably damaging 0.98
R4378:Rps6ka5 UTSW 12 100,564,196 (GRCm39) missense probably damaging 1.00
R4394:Rps6ka5 UTSW 12 100,547,578 (GRCm39) missense probably damaging 0.97
R4461:Rps6ka5 UTSW 12 100,537,123 (GRCm39) missense probably damaging 0.99
R4584:Rps6ka5 UTSW 12 100,547,577 (GRCm39) missense probably damaging 1.00
R4672:Rps6ka5 UTSW 12 100,620,546 (GRCm39) missense possibly damaging 0.93
R4706:Rps6ka5 UTSW 12 100,564,144 (GRCm39) splice site probably null
R4706:Rps6ka5 UTSW 12 100,547,578 (GRCm39) missense probably damaging 0.97
R4707:Rps6ka5 UTSW 12 100,564,144 (GRCm39) splice site probably null
R4966:Rps6ka5 UTSW 12 100,519,325 (GRCm39) missense probably benign 0.01
R5059:Rps6ka5 UTSW 12 100,520,634 (GRCm39) missense probably damaging 0.96
R5404:Rps6ka5 UTSW 12 100,582,352 (GRCm39) missense probably damaging 1.00
R5660:Rps6ka5 UTSW 12 100,585,839 (GRCm39) missense possibly damaging 0.95
R5678:Rps6ka5 UTSW 12 100,691,135 (GRCm39) missense unknown
R5992:Rps6ka5 UTSW 12 100,541,509 (GRCm39) missense possibly damaging 0.68
R6104:Rps6ka5 UTSW 12 100,519,407 (GRCm39) missense possibly damaging 0.84
R6163:Rps6ka5 UTSW 12 100,562,179 (GRCm39) critical splice acceptor site probably null
R6599:Rps6ka5 UTSW 12 100,564,168 (GRCm39) missense probably damaging 1.00
R6653:Rps6ka5 UTSW 12 100,517,795 (GRCm39) missense probably damaging 1.00
R6693:Rps6ka5 UTSW 12 100,540,088 (GRCm39) missense probably benign 0.11
R7009:Rps6ka5 UTSW 12 100,585,796 (GRCm39) missense probably damaging 1.00
R7157:Rps6ka5 UTSW 12 100,547,679 (GRCm39) missense probably damaging 1.00
R7196:Rps6ka5 UTSW 12 100,562,123 (GRCm39) missense possibly damaging 0.77
R7510:Rps6ka5 UTSW 12 100,582,327 (GRCm39) missense possibly damaging 0.56
R7565:Rps6ka5 UTSW 12 100,582,342 (GRCm39) missense probably damaging 1.00
R7800:Rps6ka5 UTSW 12 100,524,824 (GRCm39) missense probably damaging 0.97
R7843:Rps6ka5 UTSW 12 100,519,408 (GRCm39) missense possibly damaging 0.92
R8009:Rps6ka5 UTSW 12 100,544,048 (GRCm39) missense probably damaging 0.97
R8057:Rps6ka5 UTSW 12 100,540,055 (GRCm39) critical splice donor site probably null
R8292:Rps6ka5 UTSW 12 100,644,791 (GRCm39) missense possibly damaging 0.83
R8324:Rps6ka5 UTSW 12 100,524,746 (GRCm39) missense possibly damaging 0.92
R8428:Rps6ka5 UTSW 12 100,541,500 (GRCm39) nonsense probably null
R8913:Rps6ka5 UTSW 12 100,520,595 (GRCm39) missense
R9711:Rps6ka5 UTSW 12 100,540,250 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACCTCAGGCTTCAGATCTC -3'
(R):5'- CATAGATTTTGTCACCTCGGC -3'

Sequencing Primer
(F):5'- AGGCTTCAGATCTCTGTGCAC -3'
(R):5'- ACCTCGGCTCTCAGTTTTTAAAGTG -3'
Posted On 2018-05-04