Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Rps6ka2'

645651

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

067805-MU

Accession Numbers

Essential gene?

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

Stock #

R8353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7437514-7570714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7514151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 117 (N117D)

Ref Sequence

ENSEMBL: ENSMUSP00000024575 (fasta)

Gene Model

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

AlphaFold

Q9WUT3

Predicted Effect

probably benign
Transcript: ENSMUST00000024575
AA Change: N117D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: N117D

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

probably benign
Transcript: ENSMUST00000232527
AA Change: N83D

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	T	9: 101,815,884 (GRCm39)	C23F	possibly damaging	Het
Adam29	T	C	8: 56,326,196 (GRCm39)	H86R	possibly damaging	Het
Alas1	C	T	9: 106,113,721 (GRCm39)	R508Q	possibly damaging	Het
Albfm1	A	T	5: 90,714,360 (GRCm39)	R123S	possibly damaging	Het
Ark2n	T	C	18: 77,761,604 (GRCm39)	E236G	probably damaging	Het
Bmp3	G	A	5: 99,003,282 (GRCm39)		probably null	Het
Bud13	A	G	9: 46,199,499 (GRCm39)	T287A	probably benign	Het
C3	T	C	17: 57,519,643 (GRCm39)	E1203G	probably benign	Het
Carmil2	A	C	8: 106,416,843 (GRCm39)	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,166,458 (GRCm39)	T707S	probably damaging	Het
Cfap43	A	T	19: 47,735,086 (GRCm39)	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,927,267 (GRCm39)	*590K	probably null	Het
Commd1	C	T	11: 22,928,503 (GRCm39)		probably benign	Het
Creb3l1	A	T	2: 91,821,274 (GRCm39)	Y314*	probably null	Het
Ctc1	T	A	11: 68,913,275 (GRCm39)	S90R	probably benign	Het
Dixdc1	T	C	9: 50,596,186 (GRCm39)	Q413R	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Dnai4	A	G	4: 102,917,113 (GRCm39)	I577T	possibly damaging	Het
Eif1ad14	C	T	12: 87,886,323 (GRCm39)	S102N	probably benign	Het
Fam89b	A	G	19: 5,778,903 (GRCm39)	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,166,479 (GRCm39)	I400M	probably benign	Het
Gad1	A	T	2: 70,431,057 (GRCm39)	M567L	probably benign	Het
Gemin5	T	C	11: 58,016,065 (GRCm39)	S1314G	probably benign	Het
Gm9195	T	G	14: 72,678,201 (GRCm39)	I2323L	probably benign	Het
Gria1	T	A	11: 57,133,877 (GRCm39)	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,185,178 (GRCm39)	H200L	probably benign	Het
Igsf5	A	G	16: 96,222,996 (GRCm39)	Q360R	probably benign	Het
Il31ra	A	T	13: 112,660,717 (GRCm39)	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,364,779 (GRCm39)	R837G	probably damaging	Het
Itprid2	T	C	2: 79,475,129 (GRCm39)	S363P	probably benign	Het
Lpl	A	G	8: 69,348,433 (GRCm39)	I221V	probably damaging	Het
Mink1	T	A	11: 70,501,154 (GRCm39)	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,203 (GRCm39)	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,965,361 (GRCm39)	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,223,137 (GRCm39)	V460E	probably damaging	Het
Nicn1	T	A	9: 108,170,572 (GRCm39)	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,449,528 (GRCm39)	Y577C	probably damaging	Het
Nrap	T	C	19: 56,312,352 (GRCm39)	T1535A	probably damaging	Het
Opa1	G	A	16: 29,439,686 (GRCm39)	R755H	probably damaging	Het
Phldb2	A	G	16: 45,645,385 (GRCm39)	S354P	probably benign	Het
Phykpl	T	C	11: 51,489,121 (GRCm39)	S316P	probably damaging	Het
Pnpla1	T	A	17: 29,077,873 (GRCm39)	D11E	probably benign	Het
Pold2	A	G	11: 5,825,104 (GRCm39)	F98L	probably damaging	Het
Prph	G	A	15: 98,954,657 (GRCm39)	R241Q	probably benign	Het
Rcl1	T	C	19: 29,093,159 (GRCm39)	I58T	possibly damaging	Het
Sars1	G	A	3: 108,336,029 (GRCm39)	S331L	probably benign	Het
Scfd1	A	C	12: 51,459,374 (GRCm39)	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,808,166 (GRCm39)	C363R	probably benign	Het
Senp7	A	G	16: 56,008,691 (GRCm39)	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sptbn4	A	G	7: 27,103,663 (GRCm39)	L1191P	probably damaging	Het
Stk40	A	G	4: 126,022,766 (GRCm39)	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,684,792 (GRCm39)	V536E	probably benign	Het
Tex15	G	T	8: 34,066,899 (GRCm39)	E2110*	probably null	Het
Thbs4	G	A	13: 92,927,325 (GRCm39)	P55S	probably benign	Het
Tmem115	T	C	9: 107,411,997 (GRCm39)	V107A	probably benign	Het
Tnfaip6	A	C	2: 51,945,879 (GRCm39)	I242L	probably benign	Het
Trabd	G	T	15: 88,969,616 (GRCm39)	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,136,947 (GRCm39)	I86F	probably damaging	Het
Trpc7	A	G	13: 56,970,372 (GRCm39)	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,613,886 (GRCm39)	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,485,373 (GRCm39)	D707V	probably damaging	Het
Vnn3	G	A	10: 23,745,443 (GRCm39)	R464H	probably benign	Het
Wdr27	T	C	17: 15,112,751 (GRCm39)	T652A	probably benign	Het
Yeats2	C	T	16: 20,041,637 (GRCm39)	R1176*	probably null	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
R6298:Rps6ka2	UTSW	17	7,437,766 (GRCm39)	missense	possibly damaging	0.92
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
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'- AGAGCGGCCGTTATATTACC -3'
(R):5'- GTCTCTGGGATGAAGATAGGAC -3'

Sequencing Primer
(F):5'- ATATTACCTCAGATTTTCCCTGCGGG -3'
(R):5'- GATAGGACATCTTGCTCTTTTCAG -3'

Posted On

2020-09-02