Mutagenetix > Incidental Mutation

Incidental Mutation 'R6080:Rps6kb2'

482905

Institutional Source

Beutler Lab

Gene Symbol

Rps6kb2

Ensembl Gene

ENSMUSG00000024830

Gene Name

ribosomal protein S6 kinase, polypeptide 2

Synonyms

S6K2

MMRRC Submission

044239-MU

Accession Numbers

Essential gene?

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

Stock #

R6080 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4206791-4213382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4208671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 282 (I282F)

Ref Sequence

ENSEMBL: ENSMUSP00000025749 (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 benign
Transcript: ENSMUST00000025749
AA Change: I282F

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
AA Change: I282F

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 benign
Transcript: ENSMUST00000118483
AA Change: I282F

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830
AA Change: I282F

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

silent
Transcript: ENSMUST00000127605

SMART Domains

Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830

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

noncoding transcript
Transcript: ENSMUST00000135911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154307

Predicted Effect

probably benign
Transcript: ENSMUST00000137431

SMART Domains

Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

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 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	T	14: 118,906,462 (GRCm39)	M44I	possibly damaging	Het
Anks1b	C	A	10: 90,802,211 (GRCm39)	S1209*	probably null	Het
Atp9b	A	G	18: 80,782,023 (GRCm39)	V1039A	probably benign	Het
Bltp3a	T	C	17: 28,099,271 (GRCm39)	S278P	probably benign	Het
Cep44	T	C	8: 56,992,876 (GRCm39)	K246R	possibly damaging	Het
Cfap54	A	T	10: 92,881,197 (GRCm39)	D330E	possibly damaging	Het
Dnah10	A	T	5: 124,882,961 (GRCm39)	M2940L	possibly damaging	Het
Gm14326	T	A	2: 177,578,339 (GRCm39)	T68S	probably benign	Het
Gm4922	A	C	10: 18,660,500 (GRCm39)	I74S	probably damaging	Het
Ints14	G	A	9: 64,874,044 (GRCm39)	V99I	probably benign	Het
Lrp4	T	C	2: 91,332,345 (GRCm39)	S1681P	probably benign	Het
Lrp5	T	C	19: 3,678,316 (GRCm39)	E513G	probably benign	Het
Myh14	T	A	7: 44,305,035 (GRCm39)	N252I	probably damaging	Het
Naga	A	G	15: 82,219,048 (GRCm39)	V233A	probably benign	Het
Npc1	C	T	18: 12,352,408 (GRCm39)	C97Y	probably damaging	Het
Or4f15	T	G	2: 111,814,050 (GRCm39)	Y123S	probably damaging	Het
Or52n4	T	C	7: 104,294,517 (GRCm39)	I19V	probably benign	Het
Or56a3b	T	C	7: 104,771,116 (GRCm39)	F151L	probably benign	Het
Or9i2	C	A	19: 13,816,464 (GRCm39)	L24F	possibly damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Plag1	T	C	4: 3,903,815 (GRCm39)	T459A	probably benign	Het
Rnase9	T	C	14: 51,276,727 (GRCm39)	T84A	probably benign	Het
Smg5	A	G	3: 88,258,816 (GRCm39)	T596A	probably benign	Het
Ugcg	T	C	4: 59,218,524 (GRCm39)	V256A	possibly damaging	Het
Vgll4	T	C	6: 114,898,299 (GRCm39)	I21V	probably benign	Het
Vipas39	T	A	12: 87,288,727 (GRCm39)	H426L	probably damaging	Het
Vmn1r224	A	G	17: 20,639,818 (GRCm39)	T132A	possibly damaging	Het
Zc3h18	A	G	8: 123,143,283 (GRCm39)		probably benign	Het
Zfp606	T	A	7: 12,228,043 (GRCm39)	N663K	probably damaging	Het
Zfp819	A	G	7: 43,266,120 (GRCm39)	H201R	probably benign	Het
Zfp946	T	A	17: 22,674,090 (GRCm39)	H281Q	probably benign	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
R6284:Rps6kb2	UTSW	19	4,211,186 (GRCm39)	missense	probably benign	0.17
R6600:Rps6kb2	UTSW	19	4,208,850 (GRCm39)	missense	probably damaging	1.00
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'- AAAGCCAATGTGTCTGCCATC -3'
(R):5'- TGTACGACATGCTCACTGG -3'

Sequencing Primer
(F):5'- AATGTGTCTGCCATCCCCAGAG -3'
(R):5'- TACGACATGCTCACTGGATCGG -3'

Posted On

2017-07-14