Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Rps6ka2'

533305

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

044913-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R6800 (G1)

Quality Score

195.009

Status

Validated

Chromosome

Chromosomal Location

7437514-7570714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7519035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 186 (K186Q)

Ref Sequence

ENSEMBL: ENSMUSP00000024575 (fasta)

Gene Model

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

AlphaFold

Q9WUT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000024575
AA Change: K186Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: K186Q

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 damaging
Transcript: ENSMUST00000232527
AA Change: K152Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 60,992,948 (GRCm39)	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 127,836,742 (GRCm39)		probably benign	Het
Acoxl	A	T	2: 127,852,085 (GRCm39)	Q129L	probably damaging	Het
Akna	T	C	4: 63,316,268 (GRCm39)	T32A	probably benign	Het
Alox15	C	T	11: 70,235,645 (GRCm39)		probably null	Het
Antxrl	T	C	14: 33,787,864 (GRCm39)	S296P	probably damaging	Het
Arrb2	G	T	11: 70,328,142 (GRCm39)	G52*	probably null	Het
Bltp2	T	C	11: 78,179,105 (GRCm39)	F2091S	probably benign	Het
Capn2	A	T	1: 182,309,045 (GRCm39)	I499N	probably damaging	Het
Cfhr4	T	A	1: 139,629,719 (GRCm39)	D683V	possibly damaging	Het
Cspg4b	T	A	13: 113,504,686 (GRCm39)	D396E	probably benign	Het
Cubn	T	A	2: 13,326,066 (GRCm39)	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,536,965 (GRCm39)	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,316,467 (GRCm39)	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,379,377 (GRCm39)	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 65,963,565 (GRCm39)		probably null	Het
Elac2	G	A	11: 64,890,265 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,433,029 (GRCm39)		probably null	Het
Espnl	T	C	1: 91,270,351 (GRCm39)	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,422,898 (GRCm39)		probably benign	Het
Fdps	A	C	3: 89,008,068 (GRCm39)	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,346,898 (GRCm39)	I576T	possibly damaging	Het
Gm20939	A	G	17: 95,184,657 (GRCm39)	E435G	possibly damaging	Het
Hivep1	G	A	13: 42,310,852 (GRCm39)	V1031I	probably damaging	Het
Hydin	T	G	8: 111,324,603 (GRCm39)	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,273,157 (GRCm39)		probably benign	Het
Iqgap1	G	T	7: 80,378,729 (GRCm39)	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,443,233 (GRCm39)	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,017,326 (GRCm39)	*1373W	probably null	Het
Mia2	G	A	12: 59,235,332 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,156,896 (GRCm39)	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,371 (GRCm39)	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,169,367 (GRCm39)	V17A	probably benign	Het
Neurod4	A	T	10: 130,106,661 (GRCm39)	Y204*	probably null	Het
Or2n1	A	G	17: 38,486,013 (GRCm39)	I13V	probably benign	Het
Or56a42-ps1	A	T	7: 104,776,217 (GRCm39)	V97E	probably benign	Het
Or5p67	G	A	7: 107,922,460 (GRCm39)	T141I	probably benign	Het
Or6c66b	A	T	10: 129,377,132 (GRCm39)	H242L	probably damaging	Het
Pate2	T	C	9: 35,596,941 (GRCm39)		probably benign	Het
Pcdhgb8	G	A	18: 37,896,580 (GRCm39)	R550Q	probably benign	Het
Phldb3	T	C	7: 24,323,577 (GRCm39)	L437P	possibly damaging	Het
Pianp	C	A	6: 124,978,565 (GRCm39)	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,584,287 (GRCm39)	H140Q	possibly damaging	Het
Rfx2	A	G	17: 57,087,804 (GRCm39)	I529T	probably damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Rp1l1	T	C	14: 64,268,599 (GRCm39)	I1395T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtel1	C	A	2: 180,964,256 (GRCm39)	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,710,967 (GRCm39)	N99S	probably damaging	Het
Ryr1	C	T	7: 28,723,741 (GRCm39)	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,437,894 (GRCm39)	V71A	probably benign	Het
Sgip1	A	G	4: 102,778,225 (GRCm39)		probably benign	Het
Slc12a4	G	A	8: 106,676,371 (GRCm39)	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Strbp	C	T	2: 37,515,228 (GRCm39)	R266Q	probably damaging	Het
Strn	G	T	17: 78,977,787 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,118,264 (GRCm39)	V55L	probably benign	Het
Tmem178b	A	T	6: 40,231,858 (GRCm39)	Q164L	unknown	Het
Tmprss6	C	T	15: 78,324,457 (GRCm39)	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,770,268 (GRCm39)	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,038,994 (GRCm39)		probably null	Het
Vmn2r51	T	C	7: 9,832,191 (GRCm39)	D465G	probably damaging	Het
Vmp1	A	C	11: 86,556,913 (GRCm39)		probably null	Het
Wdcp	T	C	12: 4,901,358 (GRCm39)	F405L	probably damaging	Het
Zfhx3	A	T	8: 109,676,149 (GRCm39)	T2400S	probably benign	Het
Zfp27	T	C	7: 29,593,860 (GRCm39)	T702A	probably benign	Het
Zfp87	T	C	13: 74,520,080 (GRCm39)	S333G	probably benign	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
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'- CTGGCTTCTTTGAGGAGACC -3'
(R):5'- ATGAATGAAGGCCCCACATC -3'

Sequencing Primer
(F):5'- TTGAGGAGACCTTTGCAACATGC -3'
(R):5'- ATGAAGGCCCCACATCTGCTG -3'

Posted On

2018-09-12