Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Rps6ka2'

688147

Institutional Source

Beutler Lab

Gene Symbol

Rps6ka2

Ensembl Gene

ENSMUSG00000023809

Gene Name

ribosomal protein S6 kinase, polypeptide 2

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7170115-7303315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 7300279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 714 (V714L)

Ref Sequence

ENSEMBL: ENSMUSP00000024575 (fasta)

Gene Model

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

AlphaFold

Q9WUT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000024575
AA Change: V714L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: V714L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	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
IGL02948:Rps6ka2	APN	17	7254450	critical splice donor site	probably null
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
R9142:Rps6ka2	UTSW	17	7170394	missense	probably damaging	0.99
Z1177:Rps6ka2	UTSW	17	7290735	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGTCCTAGTGTACCAGG -3'
(R):5'- AAGGCCAGATCCATCTTTGTG -3'

Sequencing Primer
(F):5'- CCTAGTGTACCAGGAATCTTGGAG -3'
(R):5'- AGATCCATCTTTGTGCTGGAC -3'

Posted On

2021-11-19