Mutagenetix > Incidental Mutation

Incidental Mutation 'R6600:Rps6kb2'

525226

Institutional Source

Beutler Lab

Gene Symbol

Rps6kb2

Ensembl Gene

ENSMUSG00000024830

Gene Name

ribosomal protein S6 kinase, polypeptide 2

Synonyms

S6K2

MMRRC Submission

044724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R6600 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4206791-4213382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4208850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 259 (M259K)

Ref Sequence

ENSEMBL: ENSMUSP00000116744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000025749] [ENSMUST00000061086] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431]

AlphaFold

Q9Z1M4

Predicted Effect

probably benign
Transcript: ENSMUST00000008893

SMART Domains

Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835

Domain	Start	End	E-Value	Type
DUF1899	5	69	1.48e-37	SMART
WD40	68	111	2.1e-7	SMART
WD40	121	161	1.44e-5	SMART
WD40	164	204	4.08e-5	SMART
DUF1900	258	392	6.41e-88	SMART
coiled coil region	445	482	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000025749
AA Change: M259K

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

SMART Domains

Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
AA Change: M259K

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	391	2.6e-26	SMART
low complexity region	406	421	N/A	INTRINSIC
low complexity region	428	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061086

SMART Domains

Protein: ENSMUSP00000053412
Gene: ENSMUSG00000045826

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:PTPRCAP	58	197	8.1e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118483
AA Change: M259K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830
AA Change: M259K

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	384	1.69e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125057

Predicted Effect

probably damaging
Transcript: ENSMUST00000127605
AA Change: M259K

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

SMART Domains

Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830
AA Change: M259K

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	304	1.6e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130469

SMART Domains

Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase	67	153	2.7e-14	PFAM
Pfam:Pkinase_Tyr	67	153	9.8e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137431
AA Change: M259K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830
AA Change: M259K

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase_Tyr	67	277	4.6e-31	PFAM
Pfam:Pkinase	67	278	2.2e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154307

Meta Mutation Damage Score

0.7842

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (33/33)

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 a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	ACGC	ACGCGC	5: 138,645,710 (GRCm39)		probably null	Het
Adam1b	C	T	5: 121,639,530 (GRCm39)	C505Y	probably damaging	Het
Adam24	C	A	8: 41,133,587 (GRCm39)	H352N	probably damaging	Het
Bcl6b	A	T	11: 70,119,954 (GRCm39)	L11Q	probably damaging	Het
C2cd5	A	T	6: 143,025,702 (GRCm39)	V165E	probably damaging	Het
Cacna1d	T	C	14: 29,836,192 (GRCm39)	N852S	probably benign	Het
Cd320	T	C	17: 34,066,591 (GRCm39)	C110R	probably damaging	Het
Cdk2ap1rt	A	C	11: 48,717,115 (GRCm39)	V21G	probably damaging	Het
Clasrp	T	A	7: 19,324,207 (GRCm39)	K223*	probably null	Het
Col5a1	C	A	2: 27,887,583 (GRCm39)	N951K	unknown	Het
Csn2	T	C	5: 87,842,491 (GRCm39)	T171A	probably benign	Het
Dse	A	G	10: 34,028,537 (GRCm39)	I851T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxo24	T	A	5: 137,611,135 (GRCm39)	I413F	probably damaging	Het
Flywch2	C	A	17: 23,997,084 (GRCm39)	G109V	possibly damaging	Het
Fnip1	A	G	11: 54,393,925 (GRCm39)	D787G	probably benign	Het
Gramd1c	T	A	16: 43,860,482 (GRCm39)	R72*	probably null	Het
Hspd1	T	C	1: 55,117,777 (GRCm39)	I494V	probably benign	Het
Limch1	T	C	5: 66,903,281 (GRCm39)	V10A	probably benign	Het
Lrrfip1	C	T	1: 91,043,569 (GRCm39)	S658F	probably damaging	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nlrc3	A	G	16: 3,782,938 (GRCm39)	I157T	probably benign	Het
Or4a67	A	G	2: 88,598,101 (GRCm39)	V186A	probably benign	Het
Pdlim5	T	C	3: 141,965,039 (GRCm39)	R126G	probably damaging	Het
Pgm1	C	T	4: 99,824,259 (GRCm39)	R311*	probably null	Het
Ptcd3	T	C	6: 71,860,530 (GRCm39)	Y559C	probably damaging	Het
Robo1	T	C	16: 72,786,543 (GRCm39)	S852P	probably damaging	Het
Sema4b	T	C	7: 79,862,676 (GRCm39)	L84P	probably benign	Het
Slf1	A	C	13: 77,231,655 (GRCm39)	S575A	probably benign	Het
Tjap1	T	C	17: 46,570,924 (GRCm39)	N173S	probably damaging	Het
Trpm1	T	A	7: 63,803,781 (GRCm39)	M1K	probably null	Het
Ubr1	C	A	2: 120,745,880 (GRCm39)	K851N	probably benign	Het
Zfp568	C	A	7: 29,721,948 (GRCm39)	R298S	possibly damaging	Het

Other mutations in Rps6kb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Rps6kb2	APN	19	4,207,587 (GRCm39)	missense	probably damaging	1.00
R0735:Rps6kb2	UTSW	19	4,207,882 (GRCm39)	missense	probably benign	0.00
R2034:Rps6kb2	UTSW	19	4,211,106 (GRCm39)	missense	probably damaging	1.00
R4803:Rps6kb2	UTSW	19	4,208,677 (GRCm39)	nonsense	probably null
R4909:Rps6kb2	UTSW	19	4,207,002 (GRCm39)	utr 3 prime	probably benign
R5070:Rps6kb2	UTSW	19	4,213,227 (GRCm39)	missense	probably damaging	1.00
R5635:Rps6kb2	UTSW	19	4,211,133 (GRCm39)	missense	probably damaging	1.00
R6080:Rps6kb2	UTSW	19	4,208,671 (GRCm39)	missense	probably benign	0.22
R6284:Rps6kb2	UTSW	19	4,211,186 (GRCm39)	missense	probably benign	0.17
R7649:Rps6kb2	UTSW	19	4,207,020 (GRCm39)	missense	unknown
R8248:Rps6kb2	UTSW	19	4,206,987 (GRCm39)	splice site	probably benign
R8261:Rps6kb2	UTSW	19	4,211,195 (GRCm39)	missense	possibly damaging	0.85
R8532:Rps6kb2	UTSW	19	4,209,243 (GRCm39)	missense	probably damaging	1.00
R8807:Rps6kb2	UTSW	19	4,213,229 (GRCm39)	missense	probably damaging	1.00
R8838:Rps6kb2	UTSW	19	4,211,183 (GRCm39)	missense	probably damaging	0.99
R9086:Rps6kb2	UTSW	19	4,209,270 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCAGCTTCCCTTTAATG -3'
(R):5'- AGTCCATTCATGAGGGTGCTATC -3'

Sequencing Primer
(F):5'- ACCAGCTTCCCTTTAATGATTTTATC -3'
(R):5'- GGTGCTATCACTCACACCTTCTG -3'

Posted On

2018-06-22