Mutagenetix > Incidental Mutation

Incidental Mutation 'R6298:Rps6ka2'

527938

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka2

Ensembl Gene

ENSMUSG00000023809

Gene Name

ribosomal protein S6 kinase, polypeptide 2

Synonyms

Rsk3, Rps6ka-rs1, D17Wsu134e, 90kDa, pp90rsk, p90rsk

MMRRC Submission

044408-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R6298 (G1)

Quality Score

71.0505

Status

Validated

Chromosome

Chromosomal Location

7437514-7570714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7437766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 8 (F8S)

Ref Sequence

ENSEMBL: ENSMUSP00000024575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024575]

AlphaFold

Q9WUT3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024575
AA Change: F8S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: F8S

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
S_TKc	59	318	6.25e-107	SMART
S_TK_X	319	380	3.36e-20	SMART
S_TKc	415	672	1.84e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232617

Meta Mutation Damage Score

0.0936

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased response of heart to stress following transverse aortic constriction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,833 (GRCm39)	M733L	probably benign	Het
Acss3	G	A	10: 106,920,717 (GRCm39)	P131L	probably damaging	Het
Adgrv1	T	A	13: 81,539,886 (GRCm39)	I5678F	probably benign	Het
Aff1	C	T	5: 103,902,586 (GRCm39)	L6F	possibly damaging	Het
Ank3	G	T	10: 69,686,006 (GRCm39)	R273L	probably damaging	Het
Anks1b	G	A	10: 90,516,699 (GRCm39)	G898D	probably damaging	Het
Anxa11	C	T	14: 25,873,158 (GRCm39)	P131S	unknown	Het
Ap4e1	T	A	2: 126,889,035 (GRCm39)	M500K	probably benign	Het
Bag3	T	C	7: 128,141,922 (GRCm39)	S138P	probably damaging	Het
Capn9	T	C	8: 125,344,193 (GRCm39)	V670A	probably benign	Het
Ccne2	T	A	4: 11,199,306 (GRCm39)	W236R	probably damaging	Het
Cdh23	A	T	10: 60,262,451 (GRCm39)	Y702*	probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cit	A	T	5: 116,086,124 (GRCm39)	E896V	probably damaging	Het
Cntln	T	A	4: 85,014,998 (GRCm39)	N1096K	probably damaging	Het
Cntnap5c	T	C	17: 58,411,747 (GRCm39)	C544R	probably damaging	Het
Csf1	A	T	3: 107,655,675 (GRCm39)	L452Q	possibly damaging	Het
Cts8	T	A	13: 61,397,037 (GRCm39)	K294N	possibly damaging	Het
Dcakd	T	G	11: 102,890,618 (GRCm39)	E56D	possibly damaging	Het
Dnah17	T	C	11: 117,998,987 (GRCm39)	I929V	probably benign	Het
Dnah2	G	T	11: 69,382,467 (GRCm39)	H1214Q	probably benign	Het
Dock9	T	C	14: 121,872,006 (GRCm39)	D536G	probably damaging	Het
Drc3	A	G	11: 60,284,596 (GRCm39)	N467S	possibly damaging	Het
Dysf	A	G	6: 84,084,118 (GRCm39)		probably null	Het
Ecpas	T	G	4: 58,877,157 (GRCm39)	T93P	probably damaging	Het
Evpl	A	T	11: 116,121,748 (GRCm39)	L378Q	probably damaging	Het
Fer1l4	A	T	2: 155,866,660 (GRCm39)	H1520Q	probably damaging	Het
Fhod1	A	T	8: 106,063,780 (GRCm39)		probably benign	Het
Gabra1	T	A	11: 42,073,205 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm14137	A	G	2: 119,005,572 (GRCm39)	T44A	possibly damaging	Het
H2bl1	T	A	13: 99,120,974 (GRCm39)	R17S	probably benign	Het
Herc2	T	C	7: 55,841,013 (GRCm39)	M3444T	probably benign	Het
Igsf5	T	C	16: 96,197,648 (GRCm39)	S208P	possibly damaging	Het
Ino80b	A	G	6: 83,102,066 (GRCm39)	L12P	possibly damaging	Het
Insrr	A	G	3: 87,720,272 (GRCm39)	D970G	probably damaging	Het
Iqcf4	G	A	9: 106,445,874 (GRCm39)	A91V	probably benign	Het
Itga10	A	G	3: 96,564,078 (GRCm39)	T911A	probably benign	Het
Katnip	T	C	7: 125,469,869 (GRCm39)	V1446A	probably benign	Het
Klhl30	A	T	1: 91,285,086 (GRCm39)	D314V	probably benign	Het
Lpcat1	T	C	13: 73,659,074 (GRCm39)	V330A	possibly damaging	Het
Myef2l	T	C	3: 10,154,239 (GRCm39)	I336T	probably damaging	Het
Nhlrc3	A	T	3: 53,359,944 (GRCm39)	D306E	possibly damaging	Het
Notum	T	A	11: 120,548,766 (GRCm39)	I187F	probably damaging	Het
Nphp3	T	C	9: 103,892,640 (GRCm39)	L288P	probably damaging	Het
Ntrk2	G	T	13: 59,019,570 (GRCm39)	E394*	probably null	Het
Or6k2	T	A	1: 173,979,748 (GRCm39)	V222D	probably benign	Het
Pbld2	A	G	10: 62,874,931 (GRCm39)	K63E	probably benign	Het
Phc2	T	C	4: 128,641,982 (GRCm39)	M768T	possibly damaging	Het
Pik3c2g	G	A	6: 139,603,561 (GRCm39)	C249Y	probably damaging	Het
Plod1	G	A	4: 148,000,772 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,172,772 (GRCm39)	T9S	probably benign	Het
Pnrc1	T	A	4: 33,246,315 (GRCm39)	M215L	probably benign	Het
Prcp	G	T	7: 92,577,841 (GRCm39)	C370F	probably damaging	Het
Pter	A	G	2: 12,983,205 (GRCm39)	N70S	probably damaging	Het
Ptprt	G	T	2: 161,395,779 (GRCm39)	H1131Q	probably damaging	Het
Rasal2	T	C	1: 157,239,432 (GRCm39)	D8G	possibly damaging	Het
Rcn2	A	C	9: 55,960,209 (GRCm39)	K159Q	probably benign	Het
Rex2	T	A	4: 147,141,972 (GRCm39)	C153*	probably null	Het
Samd9l	A	G	6: 3,375,383 (GRCm39)	L626S	probably damaging	Het
Sptb	A	G	12: 76,667,428 (GRCm39)		probably null	Het
Srgap3	A	T	6: 112,793,571 (GRCm39)	V135D	probably damaging	Het
Srsf7	T	C	17: 80,514,682 (GRCm39)		probably benign	Het
Tacc2	A	G	7: 130,228,255 (GRCm39)	T1647A	probably benign	Het
Thap12	G	T	7: 98,352,612 (GRCm39)	A6S	probably damaging	Het
Tmem33	T	A	5: 67,425,894 (GRCm39)	L146*	probably null	Het
Trip13	C	A	13: 74,084,378 (GRCm39)	E36*	probably null	Het
Vkorc1l1	T	A	5: 129,971,079 (GRCm39)	C23S	probably damaging	Het
Vmn1r20	G	A	6: 57,409,112 (GRCm39)	R146H	probably benign	Het
Vmn1r222	T	A	13: 23,416,965 (GRCm39)	I83F	probably benign	Het
Vmn2r107	A	T	17: 20,576,044 (GRCm39)	I125F	probably benign	Het
Vmn2r116	A	G	17: 23,605,736 (GRCm39)	D216G	probably damaging	Het
Vwa3a	C	T	7: 120,394,874 (GRCm39)	T898I	probably benign	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Wdhd1	T	C	14: 47,510,579 (GRCm39)	D148G	possibly damaging	Het
Xylt1	T	C	7: 117,255,960 (GRCm39)	I844T	probably damaging	Het
Zfp106	A	T	2: 120,353,185 (GRCm39)	V1535D	probably damaging	Het
Zfp385b	A	T	2: 77,244,323 (GRCm39)	L315Q	possibly damaging	Het
Zfp458	T	A	13: 67,404,870 (GRCm39)	H523L	probably damaging	Het
Zfp712	T	C	13: 67,189,393 (GRCm39)	H378R	probably damaging	Het
Zic1	T	C	9: 91,246,556 (GRCm39)	Y172C	probably damaging	Het

Other mutations in Rps6ka2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Rps6ka2	APN	17	7,503,523 (GRCm39)	missense	probably benign	0.02
IGL02199:Rps6ka2	APN	17	7,521,852 (GRCm39)	splice site	probably benign
IGL02458:Rps6ka2	APN	17	7,556,402 (GRCm39)	missense	probably benign	0.04
IGL02532:Rps6ka2	APN	17	7,523,365 (GRCm39)	missense	probably damaging	1.00
IGL02741:Rps6ka2	APN	17	7,563,415 (GRCm39)	missense	probably benign	0.22
IGL02860:Rps6ka2	APN	17	7,550,255 (GRCm39)	missense	possibly damaging	0.68
IGL02948:Rps6ka2	APN	17	7,521,849 (GRCm39)	critical splice donor site	probably null
IGL03037:Rps6ka2	APN	17	7,521,849 (GRCm39)	critical splice donor site	probably null
IGL03085:Rps6ka2	APN	17	7,562,679 (GRCm39)	critical splice donor site	probably null
IGL03302:Rps6ka2	APN	17	7,566,787 (GRCm39)	missense	possibly damaging	0.83
IGL03303:Rps6ka2	APN	17	7,495,411 (GRCm39)	nonsense	probably null
R0083:Rps6ka2	UTSW	17	7,563,442 (GRCm39)	missense	probably benign	0.33
R0108:Rps6ka2	UTSW	17	7,563,442 (GRCm39)	missense	probably benign	0.33
R0145:Rps6ka2	UTSW	17	7,529,585 (GRCm39)	missense	probably benign	0.09
R0257:Rps6ka2	UTSW	17	7,495,382 (GRCm39)	missense	probably damaging	1.00
R0355:Rps6ka2	UTSW	17	7,539,009 (GRCm39)	missense	probably benign	0.03
R0563:Rps6ka2	UTSW	17	7,521,836 (GRCm39)	missense	probably damaging	1.00
R1065:Rps6ka2	UTSW	17	7,549,157 (GRCm39)	splice site	probably benign
R1465:Rps6ka2	UTSW	17	7,560,266 (GRCm39)	missense	probably damaging	1.00
R1465:Rps6ka2	UTSW	17	7,560,266 (GRCm39)	missense	probably damaging	1.00
R1540:Rps6ka2	UTSW	17	7,560,305 (GRCm39)	missense	probably null	1.00
R1708:Rps6ka2	UTSW	17	7,544,929 (GRCm39)	missense	probably damaging	0.99
R2418:Rps6ka2	UTSW	17	7,566,738 (GRCm39)	missense	possibly damaging	0.76
R2697:Rps6ka2	UTSW	17	7,567,721 (GRCm39)	missense	probably benign	0.07
R4427:Rps6ka2	UTSW	17	7,566,804 (GRCm39)	missense	possibly damaging	0.90
R4753:Rps6ka2	UTSW	17	7,566,707 (GRCm39)	missense	possibly damaging	0.86
R4951:Rps6ka2	UTSW	17	7,560,188 (GRCm39)	missense	probably damaging	1.00
R4954:Rps6ka2	UTSW	17	7,566,685 (GRCm39)	missense	probably benign
R4954:Rps6ka2	UTSW	17	7,539,003 (GRCm39)	missense	probably benign	0.00
R6800:Rps6ka2	UTSW	17	7,519,035 (GRCm39)	missense	probably damaging	1.00
R6905:Rps6ka2	UTSW	17	7,495,340 (GRCm39)	missense	probably damaging	1.00
R6952:Rps6ka2	UTSW	17	7,495,377 (GRCm39)	missense	probably benign	0.00
R7014:Rps6ka2	UTSW	17	7,523,331 (GRCm39)	missense	probably benign	0.29
R7268:Rps6ka2	UTSW	17	7,562,662 (GRCm39)	missense	possibly damaging	0.80
R7278:Rps6ka2	UTSW	17	7,539,034 (GRCm39)	missense	probably damaging	1.00
R7476:Rps6ka2	UTSW	17	7,539,032 (GRCm39)	missense	probably damaging	1.00
R7754:Rps6ka2	UTSW	17	7,544,848 (GRCm39)	splice site	probably null
R8124:Rps6ka2	UTSW	17	7,549,228 (GRCm39)	missense	possibly damaging	0.95
R8353:Rps6ka2	UTSW	17	7,514,151 (GRCm39)	missense	probably benign	0.02
R8453:Rps6ka2	UTSW	17	7,514,151 (GRCm39)	missense	probably benign	0.02
R8558:Rps6ka2	UTSW	17	7,523,316 (GRCm39)	missense	possibly damaging	0.93
R9047:Rps6ka2	UTSW	17	7,567,678 (GRCm39)	missense	probably damaging	0.99
R9142:Rps6ka2	UTSW	17	7,437,793 (GRCm39)	missense	probably damaging	0.99
Z1177:Rps6ka2	UTSW	17	7,558,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGACGCTGGGTGTAGTCTATG -3'
(R):5'- TGATGCACTGGACTGTAGCC -3'

Sequencing Primer
(F):5'- TTGCCGGGAGCTGGTACTC -3'
(R):5'- ACTGGACTGTAGCCGCACG -3'

Posted On

2018-07-23