Incidental Mutation 'IGL01571:Csnk2a1'
ID 93295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk2a1
Ensembl Gene ENSMUSG00000074698
Gene Name casein kinase 2, alpha 1 polypeptide
Synonyms Csnk2a1-rs4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01571
Quality Score
Status
Chromosome 2
Chromosomal Location 152226839-152281852 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 152275406 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 278 (R278H)
Ref Sequence ENSEMBL: ENSMUSP00000096829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099224]
AlphaFold Q60737
Predicted Effect probably damaging
Transcript: ENSMUST00000099224
AA Change: R278H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096829
Gene: ENSMUSG00000074698
AA Change: R278H

DomainStartEndE-ValueType
S_TKc 39 324 1.88e-78 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136063
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Csnk2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Csnk2a1 APN 2 152276970 nonsense probably null
IGL02043:Csnk2a1 APN 2 152274150 missense probably damaging 1.00
IGL02803:Csnk2a1 APN 2 152274085 splice site probably benign
IGL02815:Csnk2a1 APN 2 152274085 splice site probably benign
IGL02818:Csnk2a1 APN 2 152274085 splice site probably benign
IGL02819:Csnk2a1 APN 2 152274085 splice site probably benign
R1454:Csnk2a1 UTSW 2 152257427 missense probably damaging 1.00
R1725:Csnk2a1 UTSW 2 152257972 missense probably damaging 0.98
R2086:Csnk2a1 UTSW 2 152254281 missense probably benign 0.01
R3113:Csnk2a1 UTSW 2 152263214 missense probably damaging 1.00
R4003:Csnk2a1 UTSW 2 152250575 missense probably damaging 0.97
R4021:Csnk2a1 UTSW 2 152258689 missense probably damaging 0.96
R6702:Csnk2a1 UTSW 2 152258688 missense probably benign 0.35
R6703:Csnk2a1 UTSW 2 152258688 missense probably benign 0.35
R6849:Csnk2a1 UTSW 2 152250564 missense probably benign
R7021:Csnk2a1 UTSW 2 152260812 missense probably damaging 1.00
R7061:Csnk2a1 UTSW 2 152274171 missense probably benign 0.08
R7381:Csnk2a1 UTSW 2 152258694 missense probably benign 0.05
R8799:Csnk2a1 UTSW 2 152257966 missense probably damaging 1.00
R8990:Csnk2a1 UTSW 2 152254257 missense probably damaging 1.00
Posted On 2013-12-09