Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02948:Rps6ka2'

364863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps6ka2

Ensembl Gene

ENSMUSG00000023809

Gene Name

ribosomal protein S6 kinase, polypeptide 2

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

7170115-7303315 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 7254450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024575] [ENSMUST00000232527]

AlphaFold

Q9WUT3

Predicted Effect

probably null
Transcript: ENSMUST00000024575

SMART Domains

Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809

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: ENSMUST00000232136

Predicted Effect

probably null
Transcript: ENSMUST00000232527

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,319		probably benign	Het
Ano3	A	T	2: 110,697,018		probably benign	Het
Arpp21	T	C	9: 112,176,200	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440		probably benign	Het
Ceacam13	C	T	7: 18,011,063		probably benign	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Cntn1	A	G	15: 92,246,010	T285A	probably benign	Het
Dusp4	G	T	8: 34,818,572	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066		probably benign	Het
Esyt1	A	T	10: 128,519,171	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992		probably benign	Het
Fam162b	T	C	10: 51,587,296	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,341,711		probably benign	Het
Hhatl	T	C	9: 121,789,791	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384		probably null	Het
Lrp2	G	T	2: 69,487,837	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771		probably benign	Het
Ropn1l	T	C	15: 31,451,179	D53G	possibly damaging	Het
Rtn2	T	C	7: 19,293,111	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962	Y131*	probably null	Het
Slc28a2	T	A	2: 122,457,977	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,133,235		probably null	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952	L211Q	probably damaging	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,446,330	T1126I	probably benign	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641	S17T	probably benign	Het

Other mutations in Rps6ka2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Rps6ka2	APN	17	7236124	missense	probably benign	0.02
IGL02199:Rps6ka2	APN	17	7254453	splice site	probably benign
IGL02458:Rps6ka2	APN	17	7289003	missense	probably benign	0.04
IGL02532:Rps6ka2	APN	17	7255966	missense	probably damaging	1.00
IGL02741:Rps6ka2	APN	17	7296016	missense	probably benign	0.22
IGL02860:Rps6ka2	APN	17	7282856	missense	possibly damaging	0.68
IGL03037:Rps6ka2	APN	17	7254450	critical splice donor site	probably null
IGL03085:Rps6ka2	APN	17	7295280	critical splice donor site	probably null
IGL03302:Rps6ka2	APN	17	7299388	missense	possibly damaging	0.83
IGL03303:Rps6ka2	APN	17	7228012	nonsense	probably null
R0083:Rps6ka2	UTSW	17	7296043	missense	probably benign	0.33
R0108:Rps6ka2	UTSW	17	7296043	missense	probably benign	0.33
R0145:Rps6ka2	UTSW	17	7262186	missense	probably benign	0.09
R0257:Rps6ka2	UTSW	17	7227983	missense	probably damaging	1.00
R0355:Rps6ka2	UTSW	17	7271610	missense	probably benign	0.03
R0563:Rps6ka2	UTSW	17	7254437	missense	probably damaging	1.00
R1065:Rps6ka2	UTSW	17	7281758	splice site	probably benign
R1465:Rps6ka2	UTSW	17	7292867	missense	probably damaging	1.00
R1465:Rps6ka2	UTSW	17	7292867	missense	probably damaging	1.00
R1540:Rps6ka2	UTSW	17	7292906	missense	probably null	1.00
R1708:Rps6ka2	UTSW	17	7277530	missense	probably damaging	0.99
R2418:Rps6ka2	UTSW	17	7299339	missense	possibly damaging	0.76
R2697:Rps6ka2	UTSW	17	7300322	missense	probably benign	0.07
R4427:Rps6ka2	UTSW	17	7299405	missense	possibly damaging	0.90
R4753:Rps6ka2	UTSW	17	7299308	missense	possibly damaging	0.86
R4951:Rps6ka2	UTSW	17	7292789	missense	probably damaging	1.00
R4954:Rps6ka2	UTSW	17	7271604	missense	probably benign	0.00
R4954:Rps6ka2	UTSW	17	7299286	missense	probably benign
R6298:Rps6ka2	UTSW	17	7170367	missense	possibly damaging	0.92
R6800:Rps6ka2	UTSW	17	7251636	missense	probably damaging	1.00
R6905:Rps6ka2	UTSW	17	7227941	missense	probably damaging	1.00
R6952:Rps6ka2	UTSW	17	7227978	missense	probably benign	0.00
R7014:Rps6ka2	UTSW	17	7255932	missense	probably benign	0.29
R7268:Rps6ka2	UTSW	17	7295263	missense	possibly damaging	0.80
R7278:Rps6ka2	UTSW	17	7271635	missense	probably damaging	1.00
R7476:Rps6ka2	UTSW	17	7271633	missense	probably damaging	1.00
R7754:Rps6ka2	UTSW	17	7277449	splice site	probably null
R8124:Rps6ka2	UTSW	17	7281829	missense	possibly damaging	0.95
R8353:Rps6ka2	UTSW	17	7246752	missense	probably benign	0.02
R8453:Rps6ka2	UTSW	17	7246752	missense	probably benign	0.02
R8558:Rps6ka2	UTSW	17	7255917	missense	possibly damaging	0.93
R9047:Rps6ka2	UTSW	17	7300279	missense	probably damaging	0.99
R9142:Rps6ka2	UTSW	17	7170394	missense	probably damaging	0.99
Z1177:Rps6ka2	UTSW	17	7290735	missense	probably damaging	1.00

Posted On

2015-12-18