Mutagenetix > Incidental Mutations

Incidental Mutation 'R0055:Rps6ka5'

58980

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka5

Ensembl Gene

ENSMUSG00000021180

Gene Name

ribosomal protein S6 kinase, polypeptide 5

Synonyms

6330404E13Rik, MSK1, 3110005L17Rik

MMRRC Submission

038349-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100548439-100726983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100678580 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 37 (T37I)

Ref Sequence

ENSEMBL: ENSMUSP00000152481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043599] [ENSMUST00000222731]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043599
AA Change: T37I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: T37I

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000222731
AA Change: T37I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.1270

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,968,161	S108R	probably damaging	Het
2010300C02Rik	A	C	1: 37,624,256	S854A	probably benign	Het
2210016F16Rik	T	C	13: 58,384,166	D192G	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,722	W369R	probably damaging	Het
A2ml1	T	C	6: 128,570,094		probably benign	Het
Atp6v1h	A	T	1: 5,084,454	T2S	probably benign	Het
Bcl11b	G	A	12: 107,965,777	P179S	probably benign	Het
Cacna1a	C	T	8: 84,580,058		probably benign	Het
Ccdc146	C	T	5: 21,297,006		probably null	Het
Ccdc61	T	C	7: 18,892,536	D128G	probably damaging	Het
Cd55	A	G	1: 130,459,576		probably benign	Het
Cdk7	C	A	13: 100,719,304	E99*	probably null	Het
Cox8a	A	T	19: 7,217,509	S2T	probably damaging	Het
Dennd5a	A	G	7: 109,899,791	I955T	possibly damaging	Het
Dopey1	A	C	9: 86,512,652	E602A	probably benign	Het
Ephx4	T	C	5: 107,413,078	L32S	probably damaging	Het
Fbxo21	T	A	5: 118,000,490	D493E	probably benign	Het
Frmd4b	A	T	6: 97,323,649		probably benign	Het
Fzd1	A	T	5: 4,756,037	M515K	possibly damaging	Het
Gli2	A	G	1: 118,890,408		probably benign	Het
Gm12887	T	A	4: 121,616,469	K61N	probably damaging	Het
Grin2a	A	T	16: 9,669,807	V409D	probably damaging	Het
Grin2b	T	C	6: 135,923,203	I227V	probably benign	Het
Helz2	T	G	2: 181,228,821	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,323,133	N1453S	probably benign	Het
Itpr3	C	A	17: 27,098,322	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,896,453		probably benign	Het
Ly75	T	C	2: 60,321,918	E1097G	probably benign	Het
Mcm10	T	C	2: 4,991,407	N882D	probably damaging	Het
Mettl13	A	T	1: 162,546,181	L167Q	probably damaging	Het
Morn2	A	T	17: 80,295,513	M1L	probably benign	Het
Mybph	G	T	1: 134,193,852	V88L	probably damaging	Het
Nefm	T	A	14: 68,121,199		probably benign	Het
Nf1	A	G	11: 79,471,551	E1497G	probably damaging	Het
Olfr1281	T	A	2: 111,328,525	Y35*	probably null	Het
Olfr137	T	C	17: 38,304,811	S217G	possibly damaging	Het
Olfr615	A	G	7: 103,561,037	K187E	probably damaging	Het
Olfr670	T	A	7: 104,960,496	T79S	possibly damaging	Het
Plcd3	C	G	11: 103,077,585	W382S	probably damaging	Het
Plxna1	T	A	6: 89,329,739	I1370F	possibly damaging	Het
Rarb	G	A	14: 16,509,066	R106C	probably damaging	Het
Runx1	G	T	16: 92,644,141		probably benign	Het
Scube1	A	G	15: 83,634,736	V301A	probably damaging	Het
Sema3a	A	T	5: 13,400,037	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,843,042	E8*	probably null	Het
Slc22a5	T	C	11: 53,891,206	S112G	probably benign	Het
Slc25a45	T	C	19: 5,880,467	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 83,030,300		noncoding transcript	Het
Slit2	C	A	5: 48,281,726	C1077*	probably null	Het
Spn	A	G	7: 127,136,322	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,841,905	W54R	probably damaging	Het
Ucp1	G	T	8: 83,290,604	E8*	probably null	Het
Unc80	A	T	1: 66,506,623		probably benign	Het
Vsnl1	A	T	12: 11,386,986		probably null	Het
Zdhhc11	C	T	13: 73,982,686	Q295*	probably null	Het
Zfp457	T	A	13: 67,294,034	H63L	probably damaging	Het

Other mutations in Rps6ka5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Rps6ka5	APN	12	100573898	missense	probably benign
IGL01450:Rps6ka5	APN	12	100552991	splice site	probably benign
IGL01586:Rps6ka5	APN	12	100570914	missense	probably damaging	0.99
IGL01743:Rps6ka5	APN	12	100575633	critical splice donor site	probably null
IGL02995:Rps6ka5	APN	12	100573999	intron	probably benign
IGL03051:Rps6ka5	APN	12	100615991	splice site	probably null
IGL03190:Rps6ka5	APN	12	100558648	splice site	probably benign
R0055:Rps6ka5	UTSW	12	100678580	missense	probably damaging	0.97
R0067:Rps6ka5	UTSW	12	100616083	missense	probably damaging	1.00
R0212:Rps6ka5	UTSW	12	100553169	splice site	probably null
R0761:Rps6ka5	UTSW	12	100570882	missense	probably damaging	1.00
R0893:Rps6ka5	UTSW	12	100574438	missense	possibly damaging	0.71
R1237:Rps6ka5	UTSW	12	100575705	missense	possibly damaging	0.85
R1254:Rps6ka5	UTSW	12	100619529	missense	probably damaging	1.00
R1447:Rps6ka5	UTSW	12	100577825	missense	probably benign	0.02
R1611:Rps6ka5	UTSW	12	100570852	missense	possibly damaging	0.77
R2086:Rps6ka5	UTSW	12	100619615	missense	possibly damaging	0.67
R2129:Rps6ka5	UTSW	12	100678538	missense	probably damaging	0.99
R2298:Rps6ka5	UTSW	12	100551454	missense	probably damaging	0.99
R2432:Rps6ka5	UTSW	12	100554405	missense	probably damaging	0.98
R4378:Rps6ka5	UTSW	12	100597937	missense	probably damaging	1.00
R4394:Rps6ka5	UTSW	12	100581319	missense	probably damaging	0.97
R4461:Rps6ka5	UTSW	12	100570864	missense	probably damaging	0.99
R4584:Rps6ka5	UTSW	12	100581318	missense	probably damaging	1.00
R4672:Rps6ka5	UTSW	12	100654287	missense	possibly damaging	0.93
R4706:Rps6ka5	UTSW	12	100581319	missense	probably damaging	0.97
R4706:Rps6ka5	UTSW	12	100597885	splice site	probably null
R4707:Rps6ka5	UTSW	12	100597885	splice site	probably null
R4966:Rps6ka5	UTSW	12	100553066	missense	probably benign	0.01
R5059:Rps6ka5	UTSW	12	100554375	missense	probably damaging	0.96
R5404:Rps6ka5	UTSW	12	100616093	missense	probably damaging	1.00
R5660:Rps6ka5	UTSW	12	100619580	missense	possibly damaging	0.95
R5678:Rps6ka5	UTSW	12	100724876	missense	unknown
R5992:Rps6ka5	UTSW	12	100575250	missense	possibly damaging	0.68
R6104:Rps6ka5	UTSW	12	100553148	missense	possibly damaging	0.84
R6163:Rps6ka5	UTSW	12	100595920	critical splice acceptor site	probably null
R6390:Rps6ka5	UTSW	12	100570992	missense	probably damaging	0.99
R6599:Rps6ka5	UTSW	12	100597909	missense	probably damaging	1.00
R6653:Rps6ka5	UTSW	12	100551536	missense	probably damaging	1.00
R6693:Rps6ka5	UTSW	12	100573829	missense	probably benign	0.11
R7009:Rps6ka5	UTSW	12	100619537	missense	probably damaging	1.00
R7157:Rps6ka5	UTSW	12	100581420	missense	probably damaging	1.00
R7196:Rps6ka5	UTSW	12	100595864	missense	possibly damaging	0.77
R7510:Rps6ka5	UTSW	12	100616068	missense	possibly damaging	0.56
R7565:Rps6ka5	UTSW	12	100616083	missense	probably damaging	1.00
R7800:Rps6ka5	UTSW	12	100558565	missense	probably damaging	0.97
R7843:Rps6ka5	UTSW	12	100553149	missense	possibly damaging	0.92
R7926:Rps6ka5	UTSW	12	100553149	missense	possibly damaging	0.92
R8009:Rps6ka5	UTSW	12	100577789	missense	probably damaging	0.97
R8057:Rps6ka5	UTSW	12	100573796	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTCTAAAACTGCCAATGACTTCCAC -3'
(R):5'- GCTAGTGTAGATTAGCTCATGCCCAC -3'

Sequencing Primer
(F):5'- TGCCAATGACTTCCACATAAAGG -3'
(R):5'- tccttctgtgtccctccc -3'

Posted On

2013-07-11