Mutagenetix > Incidental Mutation

Incidental Mutation 'R7693:Csnk2b'

593516

Institutional Source

Beutler Lab

Gene Symbol

Csnk2b

Ensembl Gene

ENSMUSG00000024387

Gene Name

casein kinase 2, beta polypeptide

Synonyms

MMRRC Submission

045708-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35335172-35341029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35336972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 123 (G123C)

Ref Sequence

ENSEMBL: ENSMUSP00000134218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025246] [ENSMUST00000052167] [ENSMUST00000062657] [ENSMUST00000165306] [ENSMUST00000172765] [ENSMUST00000172854] [ENSMUST00000173043] [ENSMUST00000173114] [ENSMUST00000173380] [ENSMUST00000173915] [ENSMUST00000174024] [ENSMUST00000174306] [ENSMUST00000174779]

AlphaFold

P67871

Predicted Effect

probably null
Transcript: ENSMUST00000025246
AA Change: G123C

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

SMART Domains

Protein: ENSMUSP00000025246
Gene: ENSMUSG00000024387
AA Change: G123C

Domain	Start	End	E-Value	Type
CK_II_beta	8	191	9.99e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052167

SMART Domains

Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	82	99	N/A	INTRINSIC
ANK	156	186	4.36e-1	SMART
G_patch	269	315	1.45e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062657

SMART Domains

Protein: ENSMUSP00000052133
Gene: ENSMUSG00000043807

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:CK_II_beta	21	115	1e-40	BLAST
Blast:CK_II_beta	125	170	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000165306

SMART Domains

Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
ANK	133	163	4.36e-1	SMART
G_patch	246	292	1.45e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172765
AA Change: G144C

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

SMART Domains

Protein: ENSMUSP00000134523
Gene: ENSMUSG00000024387
AA Change: G144C

Domain	Start	End	E-Value	Type
CK_II_beta	29	206	6.86e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172854

SMART Domains

Protein: ENSMUSP00000138033
Gene: ENSMUSG00000043807

Domain	Start	End	E-Value	Type
Blast:CK_II_beta	1	60	2e-18	BLAST
Blast:CK_II_beta	70	115	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173043

SMART Domains

Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
ANK	133	163	2.7e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000173114
AA Change: G123C

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

SMART Domains

Protein: ENSMUSP00000134218
Gene: ENSMUSG00000024387
AA Change: G123C

Domain	Start	End	E-Value	Type
CK_II_beta	8	191	9.99e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173380

SMART Domains

Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173633
AA Change: G26C

SMART Domains

Protein: ENSMUSP00000133826
Gene: ENSMUSG00000024387
AA Change: G26C

Domain	Start	End	E-Value	Type
CK_II_beta	2	91	1.28e-26	SMART
Blast:CK_II_beta	121	154	4e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173915

SMART Domains

Protein: ENSMUSP00000133425
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	58	6.45e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174024
AA Change: G123W

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

SMART Domains

Protein: ENSMUSP00000134673
Gene: ENSMUSG00000024387
AA Change: G123W

Domain	Start	End	E-Value	Type
CK_II_beta	8	169	5.07e-71	SMART
Blast:CK_II_beta	189	220	6e-7	BLAST

Predicted Effect

silent
Transcript: ENSMUST00000174306

SMART Domains

Protein: ENSMUSP00000134413
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	122	3.01e-64	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174779
AA Change: G72C

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

SMART Domains

Protein: ENSMUSP00000133684
Gene: ENSMUSG00000024387
AA Change: G72C

Domain	Start	End	E-Value	Type
CK_II_beta	1	140	2.47e-83	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of the casein kinase 2 enzyme, which is a heterotetramer comprised of alpha and/or alpha-prime catalytic subunits and two regulatory beta subunits. Casein kinase 2 is involved in the regulation of several cellular processes including gene expression, protein synthesis and cell proliferation. Knockout of this gene in mice leads to embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit embryonic lethality post-implantation, growth retardation and arrest, a failure to form an inner cell mass and smaller size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,827,968 (GRCm39)	S63I	probably damaging	Het
Adcy10	A	G	1: 165,398,340 (GRCm39)	E1479G	probably benign	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Anapc1	A	G	2: 128,483,457 (GRCm39)	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,223,338 (GRCm39)	H525N	probably benign	Het
Arhgap33	A	T	7: 30,225,537 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,763,222 (GRCm39)	E826G	probably benign	Het
Art2a	A	T	7: 101,204,056 (GRCm39)	*161R	probably null	Het
Azi2	A	T	9: 117,876,661 (GRCm39)	N59I	probably damaging	Het
Cdhr5	T	C	7: 140,851,691 (GRCm39)	T538A	probably benign	Het
Cilk1	A	G	9: 78,065,008 (GRCm39)	D306G	probably benign	Het
Dnaaf10	T	C	11: 17,162,064 (GRCm39)	V34A	probably benign	Het
Dnaja2	G	T	8: 86,266,939 (GRCm39)	P306Q	probably damaging	Het
Dusp19	A	G	2: 80,447,905 (GRCm39)	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,101,443 (GRCm39)	G139S	probably benign	Het
Fer1l4	A	G	2: 155,862,351 (GRCm39)	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 30,770,598 (GRCm39)	R66S	probably benign	Het
Gjd2	T	C	2: 113,842,309 (GRCm39)	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,691,239 (GRCm39)	I252T	probably benign	Het
Gnl1	T	C	17: 36,299,112 (GRCm39)	C517R	probably damaging	Het
Grin1	T	A	2: 25,208,679 (GRCm39)	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,209,642 (GRCm39)	M244T	probably damaging	Het
Iqca1l	T	C	5: 24,751,626 (GRCm39)	I541V	probably benign	Het
Kcnma1	T	A	14: 23,417,680 (GRCm39)	I850F	probably damaging	Het
Kif13a	G	T	13: 46,904,089 (GRCm39)	T1748N	probably benign	Het
Lama1	C	T	17: 68,124,026 (GRCm39)	A2817V		Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Neb	C	T	2: 52,189,581 (GRCm39)	A770T	probably damaging	Het
Noc2l	T	A	4: 156,324,764 (GRCm39)	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,695,733 (GRCm39)	D205G	probably benign	Het
Or5m5	A	T	2: 85,814,979 (GRCm39)	Y265F	probably damaging	Het
Or7a37	A	T	10: 78,806,137 (GRCm39)	Y218F	probably damaging	Het
Parp9	A	G	16: 35,777,282 (GRCm39)	S409G	possibly damaging	Het
Pcnx2	G	A	8: 126,613,864 (GRCm39)	T529I	probably benign	Het
Popdc3	A	G	10: 45,191,227 (GRCm39)	S113G	probably benign	Het
Rbm8a	T	C	3: 96,537,624 (GRCm39)	I25T	probably damaging	Het
Rfc4	A	G	16: 22,946,163 (GRCm39)	W40R	probably damaging	Het
Rp1	T	C	1: 4,417,626 (GRCm39)	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,197,218 (GRCm39)	A846V	possibly damaging	Het
Spx	A	G	6: 142,360,516 (GRCm39)	D56G	probably damaging	Het
Tanc2	T	A	11: 105,814,293 (GRCm39)	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,001,843 (GRCm39)	I559V		Het
Tnfaip3	A	G	10: 18,880,528 (GRCm39)	V513A	probably benign	Het
Ucp3	T	C	7: 100,131,799 (GRCm39)	F217L	probably benign	Het
Zc3h11a	A	T	1: 133,573,475 (GRCm39)	M55K	probably damaging	Het
Zfp316	G	A	5: 143,249,167 (GRCm39)	T156I	unknown	Het

Other mutations in Csnk2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:Csnk2b	APN	17	35,336,992 (GRCm39)	missense	possibly damaging	0.92
R2318:Csnk2b	UTSW	17	35,337,037 (GRCm39)	missense	possibly damaging	0.88
R6966:Csnk2b	UTSW	17	35,336,758 (GRCm39)	missense	probably benign
R7053:Csnk2b	UTSW	17	35,335,422 (GRCm39)	intron	probably benign
R7812:Csnk2b	UTSW	17	35,339,431 (GRCm39)	missense	probably benign	0.42
R7983:Csnk2b	UTSW	17	35,335,304 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GAGGACTTGGGTGTGTACAC -3'
(R):5'- TGAGTTTGAGGACCTATCTCGAC -3'

Sequencing Primer
(F):5'- GTGTACACGTCCATGCACTTGG -3'
(R):5'- AGGGAGACTTTGGCTACT -3'

Posted On

2019-11-12