Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Rps6kb2'

224401

Institutional Source

Beutler Lab

Gene Symbol

Rps6kb2

Ensembl Gene

ENSMUSG00000024830

Gene Name

ribosomal protein S6 kinase, polypeptide 2

Synonyms

S6K2

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4156713-4163354 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4161107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 140 (T140A)

Ref Sequence

ENSEMBL: ENSMUSP00000117446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025749] [ENSMUST00000061086] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431] [ENSMUST00000167055]

AlphaFold

Q9Z1M4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025749
AA Change: T140A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830
AA Change: T140A

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

possibly damaging
Transcript: ENSMUST00000118483
AA Change: T140A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830
AA Change: T140A

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

possibly damaging
Transcript: ENSMUST00000127605
AA Change: T140A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830
AA Change: T140A

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 damaging
Transcript: ENSMUST00000130469
AA Change: T140A

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

SMART Domains

Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830
AA Change: T140A

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

probably damaging
Transcript: ENSMUST00000137431
AA Change: T140A

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

SMART Domains

Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830
AA Change: T140A

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: ENSMUST00000141104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155303

Predicted Effect

probably benign
Transcript: ENSMUST00000167055

SMART Domains

Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289

Domain	Start	End	E-Value	Type
low complexity region	206	217	N/A	INTRINSIC
low complexity region	312	328	N/A	INTRINSIC
low complexity region	332	348	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	414	433	N/A	INTRINSIC
low complexity region	490	496	N/A	INTRINSIC
Pfam:ATP-grasp_4	620	819	4.1e-46	PFAM
low complexity region	862	875	N/A	INTRINSIC

Meta Mutation Damage Score

0.6228

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,559 (GRCm38)	I65V	probably benign	Het
Abca13	A	G	11: 9,292,628 (GRCm38)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,835,235 (GRCm38)	N184K	probably benign	Het
Ampd2	A	T	3: 108,077,363 (GRCm38)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,648,458 (GRCm38)	D1018G	possibly damaging	Het
Ano9	T	A	7: 141,108,135 (GRCm38)	I223F	probably damaging	Het
B3gnt6	A	G	7: 98,194,018 (GRCm38)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,144,692 (GRCm38)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,489,849 (GRCm38)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,278,983 (GRCm38)	S26A	probably benign	Het
Cacna1d	C	A	14: 30,089,863 (GRCm38)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm38)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,963,007 (GRCm38)	V1262A	unknown	Het
Crh	C	A	3: 19,694,098 (GRCm38)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,613,538 (GRCm38)	L64*	probably null	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Ddc	T	A	11: 11,880,456 (GRCm38)	I63L	probably benign	Het
Eif3a	C	T	19: 60,762,130 (GRCm38)		probably benign	Het
Fsip2	T	A	2: 82,989,494 (GRCm38)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,691,613 (GRCm38)		noncoding transcript	Het
Grb14	A	G	2: 64,923,529 (GRCm38)		probably benign	Het
Gsap	A	T	5: 21,270,595 (GRCm38)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,757,116 (GRCm38)		probably null	Het
Helz2	G	A	2: 181,232,578 (GRCm38)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,441,972 (GRCm38)	A2038T	probably benign	Het
Il10	C	A	1: 131,024,185 (GRCm38)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,279,637 (GRCm38)		probably null	Het
Lrig2	T	C	3: 104,494,092 (GRCm38)	T160A	probably benign	Het
Mmd2	A	T	5: 142,575,184 (GRCm38)		probably null	Het
Mmp2	C	T	8: 92,836,912 (GRCm38)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,283,603 (GRCm38)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,164,983 (GRCm38)	S909G	probably benign	Het
Neb	A	T	2: 52,280,611 (GRCm38)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,458,370 (GRCm38)	I637V	possibly damaging	Het
Npw	G	A	17: 24,658,268 (GRCm38)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,275,564 (GRCm38)		probably benign	Het
Nrros	C	T	16: 32,144,157 (GRCm38)	W311*	probably null	Het
Nup188	T	A	2: 30,310,085 (GRCm38)		probably benign	Het
Olfr1444	T	A	19: 12,861,787 (GRCm38)	M4K	possibly damaging	Het
Olfr726	T	C	14: 50,083,983 (GRCm38)	M233V	probably benign	Het
Parp4	A	T	14: 56,634,263 (GRCm38)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,422,493 (GRCm38)	V292A	probably benign	Het
Pcnx2	A	G	8: 125,818,667 (GRCm38)		probably null	Het
Phf2	A	G	13: 48,817,730 (GRCm38)	S489P	unknown	Het
Pik3r5	T	A	11: 68,493,577 (GRCm38)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,222,357 (GRCm38)	E432D	probably damaging	Het
Pink1	T	C	4: 138,318,032 (GRCm38)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,200,669 (GRCm38)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,780,594 (GRCm38)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,157,927 (GRCm38)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,595,984 (GRCm38)		probably null	Het
Rabl6	T	C	2: 25,585,432 (GRCm38)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm38)		probably null	Het
S100a11	T	C	3: 93,526,122 (GRCm38)	I91T	probably benign	Het
Serpine2	A	G	1: 79,796,852 (GRCm38)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 61,987,666 (GRCm38)	D370G	probably damaging	Het
Sim2	A	C	16: 94,085,942 (GRCm38)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,698 (GRCm38)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,183,583 (GRCm38)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,792,746 (GRCm38)	E817K	probably damaging	Het
Stag3	A	G	5: 138,298,001 (GRCm38)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,820,421 (GRCm38)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,737,856 (GRCm38)		probably null	Het
Tmem104	T	A	11: 115,243,547 (GRCm38)	I303N	probably benign	Het
Ttll6	G	T	11: 96,135,526 (GRCm38)	D86Y	probably damaging	Het
Vmn1r120	T	G	7: 21,052,958 (GRCm38)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,883,989 (GRCm38)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,426,373 (GRCm38)		probably benign	Het
Vwa3a	A	T	7: 120,782,645 (GRCm38)	K568*	probably null	Het
Zcchc11	C	T	4: 108,512,195 (GRCm38)	R651W	probably damaging	Het

Other mutations in Rps6kb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Rps6kb2	APN	19	4,157,588 (GRCm38)	missense	probably damaging	1.00
R0735:Rps6kb2	UTSW	19	4,157,883 (GRCm38)	missense	probably benign	0.00
R4803:Rps6kb2	UTSW	19	4,158,678 (GRCm38)	nonsense	probably null
R4909:Rps6kb2	UTSW	19	4,157,003 (GRCm38)	utr 3 prime	probably benign
R5070:Rps6kb2	UTSW	19	4,163,228 (GRCm38)	missense	probably damaging	1.00
R5635:Rps6kb2	UTSW	19	4,161,134 (GRCm38)	missense	probably damaging	1.00
R6080:Rps6kb2	UTSW	19	4,158,672 (GRCm38)	missense	probably benign	0.22
R6284:Rps6kb2	UTSW	19	4,161,187 (GRCm38)	missense	probably benign	0.17
R6600:Rps6kb2	UTSW	19	4,158,851 (GRCm38)	missense	probably damaging	1.00
R7649:Rps6kb2	UTSW	19	4,157,021 (GRCm38)	missense	unknown
R8248:Rps6kb2	UTSW	19	4,156,988 (GRCm38)	splice site	probably benign
R8261:Rps6kb2	UTSW	19	4,161,196 (GRCm38)	missense	possibly damaging	0.85
R8532:Rps6kb2	UTSW	19	4,159,244 (GRCm38)	missense	probably damaging	1.00
R8807:Rps6kb2	UTSW	19	4,163,230 (GRCm38)	missense	probably damaging	1.00
R8838:Rps6kb2	UTSW	19	4,161,184 (GRCm38)	missense	probably damaging	0.99
R9086:Rps6kb2	UTSW	19	4,159,271 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATGAAATTTTCTCTGGACATCAC -3'
(R):5'- TTGAGGTGGCAGTCAATCCG -3'

Sequencing Primer
(F):5'- CACTAGGCACTGGATGGATG -3'
(R):5'- TGGCAGTCAATCCGCAGAG -3'

Posted On

2014-08-25