Incidental Mutation 'R6849:Csnk2a1'
ID 534899
Institutional Source Beutler Lab
Gene Symbol Csnk2a1
Ensembl Gene ENSMUSG00000074698
Gene Name casein kinase 2, alpha 1 polypeptide
Synonyms CK2, Csnk2a1-rs4
MMRRC Submission 044953-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152068759-152123772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 152092484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 18 (H18Q)
Ref Sequence ENSEMBL: ENSMUSP00000116853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099224] [ENSMUST00000124791] [ENSMUST00000133119]
AlphaFold Q60737
Predicted Effect probably benign
Transcript: ENSMUST00000099224
AA Change: H18Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096829
Gene: ENSMUSG00000074698
AA Change: H18Q

DomainStartEndE-ValueType
S_TKc 39 324 1.88e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124791
AA Change: H18Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122505
Gene: ENSMUSG00000074698
AA Change: H18Q

DomainStartEndE-ValueType
Pfam:Pkinase 39 76 3.8e-7 PFAM
Pfam:Pkinase 71 131 9.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133119
AA Change: H18Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116853
Gene: ENSMUSG00000074698
AA Change: H18Q

DomainStartEndE-ValueType
Pfam:Pkinase 39 77 3.1e-7 PFAM
Meta Mutation Damage Score 0.1079 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for the null in the major catalytic subunit die by E11.5 and exhibit defects in neural, cardiac and limb development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
Bphl T A 13: 34,234,252 (GRCm39) probably null Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
D130040H23Rik T A 8: 69,755,303 (GRCm39) Y253* probably null Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Lipc A G 9: 70,726,129 (GRCm39) probably null Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pcnx2 A G 8: 126,587,949 (GRCm39) V833A probably damaging Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Ubr7 T C 12: 102,724,342 (GRCm39) S19P probably damaging Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K possibly damaging Het
Other mutations in Csnk2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Csnk2a1 APN 2 152,117,326 (GRCm39) missense probably damaging 1.00
IGL02003:Csnk2a1 APN 2 152,118,890 (GRCm39) nonsense probably null
IGL02043:Csnk2a1 APN 2 152,116,070 (GRCm39) missense probably damaging 1.00
IGL02803:Csnk2a1 APN 2 152,116,005 (GRCm39) splice site probably benign
IGL02815:Csnk2a1 APN 2 152,116,005 (GRCm39) splice site probably benign
IGL02818:Csnk2a1 APN 2 152,116,005 (GRCm39) splice site probably benign
IGL02819:Csnk2a1 APN 2 152,116,005 (GRCm39) splice site probably benign
R1454:Csnk2a1 UTSW 2 152,099,347 (GRCm39) missense probably damaging 1.00
R1725:Csnk2a1 UTSW 2 152,099,892 (GRCm39) missense probably damaging 0.98
R2086:Csnk2a1 UTSW 2 152,096,201 (GRCm39) missense probably benign 0.01
R3113:Csnk2a1 UTSW 2 152,105,134 (GRCm39) missense probably damaging 1.00
R4003:Csnk2a1 UTSW 2 152,092,495 (GRCm39) missense probably damaging 0.97
R4021:Csnk2a1 UTSW 2 152,100,609 (GRCm39) missense probably damaging 0.96
R6702:Csnk2a1 UTSW 2 152,100,608 (GRCm39) missense probably benign 0.35
R6703:Csnk2a1 UTSW 2 152,100,608 (GRCm39) missense probably benign 0.35
R7021:Csnk2a1 UTSW 2 152,102,732 (GRCm39) missense probably damaging 1.00
R7061:Csnk2a1 UTSW 2 152,116,091 (GRCm39) missense probably benign 0.08
R7381:Csnk2a1 UTSW 2 152,100,614 (GRCm39) missense probably benign 0.05
R8799:Csnk2a1 UTSW 2 152,099,886 (GRCm39) missense probably damaging 1.00
R8990:Csnk2a1 UTSW 2 152,096,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCTTGTTTCTGCAGTGTGAAG -3'
(R):5'- CTTTACCTCAGAAGCCCAGG -3'

Sequencing Primer
(F):5'- CTTGTTTCTGCAGTGTGAAGAAAAAG -3'
(R):5'- AGGCATGTCCCACACTTG -3'
Posted On 2018-09-12