Incidental Mutation 'IGL01979:Csnk2b'
ID181813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk2b
Ensembl Gene ENSMUSG00000024387
Gene Namecasein kinase 2, beta polypeptide
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01979
Quality Score
Status
Chromosome17
Chromosomal Location35116196-35122053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35118016 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 65 (N65I)
Ref Sequence ENSEMBL: ENSMUSP00000133684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025246] [ENSMUST00000052167] [ENSMUST00000062657] [ENSMUST00000165306] [ENSMUST00000172765] [ENSMUST00000172854] [ENSMUST00000173043] [ENSMUST00000173114] [ENSMUST00000173380] [ENSMUST00000174024] [ENSMUST00000174779] [ENSMUST00000174306] [ENSMUST00000173915]
Predicted Effect probably benign
Transcript: ENSMUST00000025246
AA Change: N116I

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025246
Gene: ENSMUSG00000024387
AA Change: N116I

DomainStartEndE-ValueType
CK_II_beta 8 191 9.99e-143 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052167
SMART Domains Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000172765
AA Change: N137I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134523
Gene: ENSMUSG00000024387
AA Change: N137I

DomainStartEndE-ValueType
CK_II_beta 29 206 6.86e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172854
SMART Domains Protein: ENSMUSP00000138033
Gene: ENSMUSG00000043807

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 2.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173114
AA Change: N116I

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134218
Gene: ENSMUSG00000024387
AA Change: N116I

DomainStartEndE-ValueType
CK_II_beta 8 191 9.99e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173189
Predicted Effect probably benign
Transcript: ENSMUST00000173380
SMART Domains Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173576
Predicted Effect possibly damaging
Transcript: ENSMUST00000174024
AA Change: N116I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134673
Gene: ENSMUSG00000024387
AA Change: N116I

DomainStartEndE-ValueType
CK_II_beta 8 169 5.07e-71 SMART
Blast:CK_II_beta 189 220 6e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174779
AA Change: N65I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133684
Gene: ENSMUSG00000024387
AA Change: N65I

DomainStartEndE-ValueType
CK_II_beta 1 140 2.47e-83 SMART
Predicted Effect unknown
Transcript: ENSMUST00000173633
AA Change: N19I
SMART Domains Protein: ENSMUSP00000133826
Gene: ENSMUSG00000024387
AA Change: N19I

DomainStartEndE-ValueType
CK_II_beta 2 91 1.28e-26 SMART
Blast:CK_II_beta 121 154 4e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174306
AA Change: N116I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134413
Gene: ENSMUSG00000024387
AA Change: N116I

DomainStartEndE-ValueType
CK_II_beta 8 122 3.01e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177018
Predicted Effect probably benign
Transcript: ENSMUST00000173915
SMART Domains Protein: ENSMUSP00000133425
Gene: ENSMUSG00000024387

DomainStartEndE-ValueType
CK_II_beta 8 58 6.45e-8 SMART
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A C 16: 38,827,893 S285A possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Ap3b1 T A 13: 94,448,463 L394* probably null Het
Cdk2ap1 C T 5: 124,348,709 V57M probably damaging Het
Dennd4a G A 9: 64,894,409 E945K probably benign Het
Eif2b2 A G 12: 85,219,834 D59G probably benign Het
Ero1l A T 14: 45,287,744 N441K probably damaging Het
Fam91a1 A G 15: 58,432,584 D383G probably damaging Het
Fbxl7 C A 15: 26,789,563 S26I probably damaging Het
Il20 A T 1: 130,911,102 I42K probably damaging Het
Nav3 A G 10: 109,704,929 F1947L probably benign Het
Ncapd3 T A 9: 27,071,965 probably null Het
Numb G T 12: 83,842,277 H23N probably damaging Het
Olfr1419 G A 19: 11,871,223 probably benign Het
Olfr507 A G 7: 108,622,441 I210V probably benign Het
Ppp1r1b C T 11: 98,356,840 T111I probably damaging Het
Rad50 G A 11: 53,686,178 Q528* probably null Het
Scara3 A T 14: 65,930,963 S402T probably benign Het
Sept3 A G 15: 82,284,392 Y132C probably damaging Het
Sim2 C A 16: 94,123,482 N495K possibly damaging Het
Slc9b1 A G 3: 135,371,982 probably null Het
Tanc2 A G 11: 105,776,920 D109G probably benign Het
Traf1 T C 2: 34,943,893 I404V probably benign Het
Vmn2r68 C A 7: 85,222,117 V653L probably benign Het
Wdr93 A T 7: 79,776,652 Q555L probably benign Het
Other mutations in Csnk2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2318:Csnk2b UTSW 17 35118061 missense possibly damaging 0.88
R6966:Csnk2b UTSW 17 35117782 missense probably benign
R7053:Csnk2b UTSW 17 35116446 intron probably benign
R7693:Csnk2b UTSW 17 35117996 missense probably null 1.00
R7812:Csnk2b UTSW 17 35120455 missense probably benign 0.42
R7983:Csnk2b UTSW 17 35116328 missense possibly damaging 0.68
Posted On2014-05-07