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
chard	UTSW	12	100616083	missense	probably damaging	1.00
Ramp	UTSW	12	100575705	missense	possibly damaging	0.85
zwiebel	UTSW	12	100678538	missense	probably damaging	0.99
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
R8009:Rps6ka5	UTSW	12	100577789	missense	probably damaging	0.97
R8057:Rps6ka5	UTSW	12	100573796	critical splice donor site	probably null
R8292:Rps6ka5	UTSW	12	100678532	missense	possibly damaging	0.83
R8324:Rps6ka5	UTSW	12	100558487	missense	possibly damaging	0.92
R8428:Rps6ka5	UTSW	12	100575241	nonsense	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