Incidental Mutation 'R8799:Csnk2a1'
ID 671421
Institutional Source Beutler Lab
Gene Symbol Csnk2a1
Ensembl Gene ENSMUSG00000074698
Gene Name casein kinase 2, alpha 1 polypeptide
Synonyms CK2, Csnk2a1-rs4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8799 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 152068759-152123772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152099886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 114 (E114G)
Ref Sequence ENSEMBL: ENSMUSP00000096829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099224] [ENSMUST00000124791] [ENSMUST00000133119]
AlphaFold Q60737
Predicted Effect probably damaging
Transcript: ENSMUST00000099224
AA Change: E114G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096829
Gene: ENSMUSG00000074698
AA Change: E114G

DomainStartEndE-ValueType
S_TKc 39 324 1.88e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124791
AA Change: E80G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122505
Gene: ENSMUSG00000074698
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Pkinase 39 76 3.8e-7 PFAM
Pfam:Pkinase 71 131 9.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133119
SMART Domains Protein: ENSMUSP00000116853
Gene: ENSMUSG00000074698

DomainStartEndE-ValueType
Pfam:Pkinase 39 77 3.1e-7 PFAM
Meta Mutation Damage Score 0.8095 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,578 (GRCm39) C134S probably damaging Het
Acox3 T G 5: 35,747,052 (GRCm39) F156L probably damaging Het
Adprhl1 T C 8: 13,272,474 (GRCm39) E1428G probably benign Het
Arhgap40 A T 2: 158,354,758 (GRCm39) M15L probably benign Het
Bahcc1 C A 11: 120,177,173 (GRCm39) F2020L probably damaging Het
BC024063 A T 10: 81,945,352 (GRCm39) H324L probably benign Het
Ccdc40 C A 11: 119,155,292 (GRCm39) S1177R probably benign Het
Ccne2 A T 4: 11,201,355 (GRCm39) R294S probably benign Het
Cib1 A C 7: 79,882,291 (GRCm39) S6R probably damaging Het
Cxxc1 A G 18: 74,354,128 (GRCm39) probably benign Het
Decr2 A C 17: 26,307,911 (GRCm39) I47M possibly damaging Het
Dmxl2 A G 9: 54,327,027 (GRCm39) probably null Het
Dse G A 10: 34,060,149 (GRCm39) probably benign Het
Eml6 A G 11: 29,708,981 (GRCm39) V1480A probably benign Het
Erap1 A G 13: 74,805,755 (GRCm39) I165M probably benign Het
Fan1 G T 7: 64,016,406 (GRCm39) Q573K probably damaging Het
Fndc3a G A 14: 72,793,955 (GRCm39) T906I probably benign Het
Gm21915 A C 9: 40,582,006 (GRCm39) H33P possibly damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Lama3 G T 18: 12,624,000 (GRCm39) Q1384H probably damaging Het
Lrrc34 C T 3: 30,678,979 (GRCm39) E373K probably benign Het
Ly75 A G 2: 60,178,785 (GRCm39) F677L probably damaging Het
Megf11 A G 9: 64,588,673 (GRCm39) D493G probably benign Het
Mta3 A T 17: 84,096,369 (GRCm39) I348F possibly damaging Het
Myo1d A T 11: 80,575,205 (GRCm39) F170L probably damaging Het
Nfkbia A G 12: 55,539,083 (GRCm39) probably benign Het
Nfx1 A T 4: 41,023,727 (GRCm39) E1045D probably damaging Het
Npffr2 T G 5: 89,731,177 (GRCm39) V369G probably benign Het
Or14c44 T C 7: 86,061,854 (GRCm39) C95R probably damaging Het
Or4d5 A T 9: 40,011,985 (GRCm39) M267K possibly damaging Het
Or4f59 A T 2: 111,872,528 (GRCm39) I283N probably damaging Het
Or5t18 A T 2: 86,636,575 (GRCm39) M256K probably damaging Het
Or5w13 G T 2: 87,524,057 (GRCm39) H56Q possibly damaging Het
Otoa G A 7: 120,691,894 (GRCm39) E41K possibly damaging Het
Podxl A G 6: 31,501,400 (GRCm39) V385A probably damaging Het
Ppp4r4 C T 12: 103,567,623 (GRCm39) T673M possibly damaging Het
Rbm20 G T 19: 53,821,120 (GRCm39) C525F probably damaging Het
Rnf17 A T 14: 56,737,886 (GRCm39) E1222D probably damaging Het
Ros1 G A 10: 51,922,143 (GRCm39) A2331V probably benign Het
Rrs1 T A 1: 9,615,819 (GRCm39) I24N probably damaging Het
Sec11a A G 7: 80,584,850 (GRCm39) V29A possibly damaging Het
Shisa3 T A 5: 67,768,749 (GRCm39) Y216* probably null Het
Slc22a2 A T 17: 12,831,425 (GRCm39) Y405F probably benign Het
Slc2a12 A T 10: 22,568,105 (GRCm39) M511L possibly damaging Het
Slc38a9 T A 13: 112,840,136 (GRCm39) H338Q probably damaging Het
Slco1c1 T G 6: 141,505,531 (GRCm39) S486A probably benign Het
Slit2 T C 5: 48,461,524 (GRCm39) S1524P possibly damaging Het
Spata31d1c T C 13: 65,184,140 (GRCm39) S561P possibly damaging Het
Stac3 T A 10: 127,340,781 (GRCm39) M182K probably damaging Het
Stt3b T C 9: 115,077,685 (GRCm39) E689G probably damaging Het
Suclg1 A G 6: 73,248,091 (GRCm39) K271E probably benign Het
Tas1r1 A G 4: 152,116,708 (GRCm39) Y309H probably benign Het
Tbc1d5 TGC TGCCGC 17: 51,106,969 (GRCm39) probably benign Het
Tbc1d5 TG TGCGG 17: 51,106,978 (GRCm39) probably benign Het
Tbc1d5 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 17: 51,106,962 (GRCm39) probably benign Het
Tbc1d5 TGC TGCGGC 17: 51,106,963 (GRCm39) probably benign Het
Tmem101 A G 11: 102,044,336 (GRCm39) F184L probably benign Het
Zfp474 A G 18: 52,772,166 (GRCm39) Q273R probably benign Het
Zfyve28 A G 5: 34,390,670 (GRCm39) L197P probably 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
R6849:Csnk2a1 UTSW 2 152,092,484 (GRCm39) missense probably benign
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
R8990:Csnk2a1 UTSW 2 152,096,177 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTGTGAGAGTTCAGCTGAG -3'
(R):5'- CCAGCAGAAACTGTCAAATGAATG -3'

Sequencing Primer
(F):5'- CAGCTGAGTTTTTCTTCAAAATCC -3'
(R):5'- TGTTTTAGTTATTCCAAGAGCACTC -3'
Posted On 2021-04-30