Mutagenetix > Incidental Mutation

Incidental Mutation 'R1254:Rps6ka5'

151392

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka5

Ensembl Gene

ENSMUSG00000021180

Gene Name

ribosomal protein S6 kinase, polypeptide 5

Synonyms

3110005L17Rik, MSK1, 6330404E13Rik

MMRRC Submission

039321-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1254 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100514692-100691693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100585788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 168 (H168Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152481 (fasta)

Gene Model

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

AlphaFold

Q8C050

Predicted Effect

probably damaging
Transcript: ENSMUST00000043599
AA Change: H168Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: H168Q

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

probably damaging
Transcript: ENSMUST00000222731
AA Change: H168Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.4%

Validation Efficiency

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Coro2b	A	G	9: 62,336,247 (GRCm39)	L280P	probably damaging	Het
D430041D05Rik	T	G	2: 104,031,648 (GRCm39)	K1649N	probably damaging	Het
Duox2	T	A	2: 122,113,959 (GRCm39)	H1191L	probably damaging	Het
Etl4	A	G	2: 20,812,734 (GRCm39)	T1430A	probably damaging	Het
Hivep3	A	G	4: 119,956,490 (GRCm39)	Y1602C	probably damaging	Het
Ints6	A	G	14: 62,953,823 (GRCm39)	S180P	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Klhdc3	C	T	17: 46,988,993 (GRCm39)	V66I	probably benign	Het
Or5p56	T	A	7: 107,589,647 (GRCm39)	V25D	probably benign	Het
Pank1	T	C	19: 34,818,260 (GRCm39)	H93R	probably benign	Het
Pcdhb16	T	G	18: 37,612,348 (GRCm39)	V436G	possibly damaging	Het
Plekha6	G	A	1: 133,200,327 (GRCm39)	R302H	probably benign	Het
Ptk2	C	T	15: 73,101,819 (GRCm39)	R797Q	probably benign	Het
Rnase10	A	T	14: 51,247,083 (GRCm39)	M117L	probably damaging	Het
Rnf151	A	T	17: 24,936,526 (GRCm39)	C20*	probably null	Het
Robo4	T	C	9: 37,322,136 (GRCm39)		probably null	Het
Sstr1	G	A	12: 58,260,108 (GRCm39)	V244M	possibly damaging	Het
Tmem147	A	T	7: 30,428,795 (GRCm39)	Y17*	probably null	Het
Vmn1r7	A	G	6: 57,001,772 (GRCm39)	C163R	probably damaging	Het

Other mutations in Rps6ka5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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	100,547,578 (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'- GGGAATCACTCTAACTCAGCAGCAAA -3'
(R):5'- AGTTTTAATGGCAGTACTCCTTGCACA -3'

Sequencing Primer
(F):5'- tgtaggcataccacaccaag -3'
(R):5'- AGTACTCCTTGCACATTAATCTGG -3'

Posted On

2014-01-29