Incidental Mutation 'R2086:Rps6ka5'
ID 230014
Institutional Source Beutler Lab
Gene Symbol Rps6ka5
Ensembl Gene ENSMUSG00000021180
Gene Name ribosomal protein S6 kinase, polypeptide 5
Synonyms 3110005L17Rik, MSK1, 6330404E13Rik
MMRRC Submission 040091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2086 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 100514692-100691693 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100585874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 140 (T140A)
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: T140A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: T140A

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 noncoding transcript
Transcript: ENSMUST00000221379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222512
Predicted Effect possibly damaging
Transcript: ENSMUST00000222731
AA Change: T140A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.5392 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 124,917,767 (GRCm39) M53T unknown Het
Abcb11 T A 2: 69,089,820 (GRCm39) probably benign Het
Acap2 C G 16: 30,929,763 (GRCm39) A432P probably damaging Het
Adamtsl1 A G 4: 86,146,249 (GRCm39) R302G probably damaging Het
Aoc1l1 A G 6: 48,954,536 (GRCm39) E558G probably damaging Het
Ap2b1 T G 11: 83,241,944 (GRCm39) S608A possibly damaging Het
Atp13a3 T A 16: 30,171,116 (GRCm39) T310S possibly damaging Het
Atp6v1b1 T C 6: 83,734,834 (GRCm39) V382A probably benign Het
Atp6v1g1 T A 4: 63,468,304 (GRCm39) F102L probably benign Het
B430306N03Rik T A 17: 48,623,810 (GRCm39) V37D probably damaging Het
Cacna1d T C 14: 29,769,314 (GRCm39) Y1872C possibly damaging Het
Carf T A 1: 60,148,570 (GRCm39) Y54N probably damaging Het
Cct5 T C 15: 31,594,349 (GRCm39) E256G probably damaging Het
Cd5 A G 19: 10,700,620 (GRCm39) S295P probably benign Het
Cenpb T C 2: 131,020,517 (GRCm39) probably benign Het
Cntnap3 A G 13: 64,942,076 (GRCm39) M218T possibly damaging Het
Colec11 C T 12: 28,644,786 (GRCm39) R236H probably damaging Het
Crem T A 18: 3,288,098 (GRCm39) probably benign Het
Csnk2a1 A G 2: 152,096,201 (GRCm39) N58S probably benign Het
Cyp2a4 T G 7: 26,011,733 (GRCm39) M318R probably damaging Het
Dhrs1 T A 14: 55,981,116 (GRCm39) Q98L probably null Het
Dnah11 G T 12: 118,077,606 (GRCm39) Q1296K possibly damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Eid2b C T 7: 27,977,198 (GRCm39) probably benign Het
Exoc1 A T 5: 76,680,693 (GRCm39) K28* probably null Het
Fam114a1 A G 5: 65,137,402 (GRCm39) D115G probably benign Het
Fam151a A T 4: 106,592,760 (GRCm39) probably null Het
Gc T C 5: 89,586,201 (GRCm39) Y313C probably damaging Het
Gdpd1 A G 11: 86,926,094 (GRCm39) Y284H probably benign Het
Gm21957 T A 7: 124,818,878 (GRCm39) noncoding transcript Het
Golm1 G A 13: 59,792,999 (GRCm39) Q169* probably null Het
Greb1l T C 18: 10,523,281 (GRCm39) V813A probably damaging Het
Itih1 C T 14: 30,659,800 (GRCm39) A279T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 T C 17: 68,124,618 (GRCm39) C2893R probably damaging Het
Lama3 T A 18: 12,657,887 (GRCm39) N334K probably benign Het
Loxhd1 A G 18: 77,472,642 (GRCm39) D1053G probably damaging Het
Map3k20 A G 2: 72,228,729 (GRCm39) K316R probably benign Het
Mapre3 A C 5: 31,020,546 (GRCm39) probably null Het
Mgam T A 6: 40,737,962 (GRCm39) probably null Het
Mical2 A C 7: 111,917,810 (GRCm39) H389P probably benign Het
Mtmr2 A G 9: 13,711,248 (GRCm39) D347G probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nodal A T 10: 61,259,077 (GRCm39) E171D possibly damaging Het
Notch2 T C 3: 98,009,683 (GRCm39) S537P probably damaging Het
Obox6 A G 7: 15,567,532 (GRCm39) L305S probably damaging Het
Obscn T C 11: 58,969,082 (GRCm39) D2715G probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5g26 A C 2: 85,494,090 (GRCm39) S229R probably benign Het
Pcca T C 14: 122,923,527 (GRCm39) S404P probably damaging Het
Pcdh10 T C 3: 45,334,906 (GRCm39) S407P probably damaging Het
Plekha5 C A 6: 140,516,044 (GRCm39) probably null Het
Ptdss1 A G 13: 67,101,619 (GRCm39) N72S probably benign Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Pygm G A 19: 6,441,511 (GRCm39) probably null Het
Rab7 C T 6: 87,989,300 (GRCm39) V57I probably benign Het
Rasl10a A G 11: 5,009,431 (GRCm39) probably null Het
Rergl T C 6: 139,471,832 (GRCm39) T106A probably benign Het
Rnf17 T G 14: 56,720,837 (GRCm39) V1023G probably damaging Het
Rnf25 T A 1: 74,633,126 (GRCm39) R409W probably damaging Het
Rps6ka1 T C 4: 133,600,280 (GRCm39) M1V probably null Het
Sbno2 T A 10: 79,893,690 (GRCm39) I1204F possibly damaging Het
Serpina16 A T 12: 103,641,521 (GRCm39) I68N probably damaging Het
Slc35a5 A G 16: 44,964,628 (GRCm39) S202P probably damaging Het
Slc35g3 G C 11: 69,651,772 (GRCm39) S93W probably damaging Het
Slc49a3 C T 5: 108,593,487 (GRCm39) R117H probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Spag1 T C 15: 36,227,287 (GRCm39) L648P probably damaging Het
Tagap1 T C 17: 7,224,102 (GRCm39) D198G probably benign Het
Tedc2 T C 17: 24,436,874 (GRCm39) E287G probably damaging Het
Tjp1 C A 7: 64,962,669 (GRCm39) R1089S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ttc38 T A 15: 85,722,928 (GRCm39) D125E probably benign Het
Uggt1 C T 1: 36,231,495 (GRCm39) R490Q probably null Het
Uroc1 T G 6: 90,321,096 (GRCm39) L224R probably damaging Het
Vmn1r228 A T 17: 20,997,455 (GRCm39) I21N possibly damaging Het
Vmn2r102 T G 17: 19,896,949 (GRCm39) L99V probably damaging Het
Vps13c C T 9: 67,857,571 (GRCm39) S2601F probably benign Het
Zfp462 T C 4: 55,010,830 (GRCm39) L932P probably damaging 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
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 12 100,547,578 (GRCm39) missense probably damaging 0.97
R4706:Rps6ka5 UTSW 12 100,564,144 (GRCm39) splice site probably null
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
R6390:Rps6ka5 UTSW 12 100,537,251 (GRCm39) missense probably damaging 0.99
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'- GTGGAAACATCAACTTGTTTAGCTC -3'
(R):5'- TCCTTGCACATTAATCTGGTTTGG -3'

Sequencing Primer
(F):5'- AACTTGTTTAGCTCCATCCACAG -3'
(R):5'- CACATTAATCTGGTTTGGTTAGGATG -3'
Posted On 2014-09-18