Mutagenetix > Incidental Mutations

Incidental Mutation 'R2086:Rps6ka5'

230014

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka5

Ensembl Gene

ENSMUSG00000021180

Gene Name

ribosomal protein S6 kinase, polypeptide 5

Synonyms

6330404E13Rik, MSK1, 3110005L17Rik

MMRRC Submission

040091-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100548439-100726983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100619615 bp

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]

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

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476		probably benign	Het
Acap2	C	G	16: 31,110,945	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012	R302G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256	S295P	probably benign	Het
Cenpb	T	C	2: 131,178,597		probably benign	Het
Cntnap3	A	G	13: 64,794,262	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098		probably benign	Het
Csnk2a1	A	G	2: 152,254,281	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871	Q1296K	possibly damaging	Het
Doxl2	A	G	6: 48,977,602	E558G	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773		probably benign	Het
Exoc1	A	T	5: 76,532,846	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563		probably null	Het
Gc	T	C	5: 89,438,342	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706		noncoding transcript	Het
Golm1	G	A	13: 59,645,185	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281	V813A	probably damaging	Het
Itih1	C	T	14: 30,937,843	A279T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lama1	T	C	17: 67,817,623	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202		probably null	Het
Mfsd7a	C	T	5: 108,445,621	R117H	probably damaging	Het
Mgam	T	A	6: 40,761,028		probably null	Het
Mical2	A	C	7: 112,318,603	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256	D2715G	probably damaging	Het
Olfr154	A	C	2: 85,663,746	S229R	probably benign	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Pcca	T	C	14: 122,686,115	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,380,471	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318		probably null	Het
Ptdss1	A	G	13: 66,953,555	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984	I43V	probably null	Het
Pygm	G	A	19: 6,391,481		probably null	Het
Rab7	C	T	6: 88,012,318	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431		probably null	Het
Rergl	T	C	6: 139,494,834	T106A	probably benign	Het
Rnf17	T	G	14: 56,483,380	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969	M1V	probably null	Het
Sbno2	T	A	10: 80,057,856	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946	S93W	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Spag1	T	C	15: 36,227,141	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ttc38	T	A	15: 85,838,727	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830	L932P	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
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
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'- GTGGAAACATCAACTTGTTTAGCTC -3'
(R):5'- TCCTTGCACATTAATCTGGTTTGG -3'

Sequencing Primer
(F):5'- AACTTGTTTAGCTCCATCCACAG -3'
(R):5'- CACATTAATCTGGTTTGGTTAGGATG -3'

Posted On

2014-09-18