Incidental Mutation 'IGL02466:Csnk2a2'
ID294575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csnk2a2
Ensembl Gene ENSMUSG00000046707
Gene Namecasein kinase 2, alpha prime polypeptide
SynonymsCK2, 1110035J23Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.863) question?
Stock #IGL02466
Quality Score
Status
Chromosome8
Chromosomal Location95446096-95490039 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95477231 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 100 (D100G)
Ref Sequence ENSEMBL: ENSMUSP00000148404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056919] [ENSMUST00000212214] [ENSMUST00000212952]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056919
AA Change: D100G

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055919
Gene: ENSMUSG00000046707
AA Change: D100G

DomainStartEndE-ValueType
S_TKc 40 325 1.85e-77 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211980
Predicted Effect possibly damaging
Transcript: ENSMUST00000212214
AA Change: D100G

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212338
Predicted Effect probably benign
Transcript: ENSMUST00000212441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212615
Predicted Effect probably benign
Transcript: ENSMUST00000212616
Predicted Effect probably benign
Transcript: ENSMUST00000212952
AA Change: D33G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Males homozygotes for a targeted null mutation of the minor catalytic subunit exhibit infertility with oligospermia and abnormally shaped spermatid nuclei. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,216,435 probably null Het
Abca13 T C 11: 9,297,527 F2425L probably benign Het
Adgre4 A T 17: 55,814,188 Y418F probably benign Het
Adra1a G T 14: 66,637,873 C99F probably damaging Het
Aox3 C A 1: 58,158,272 H592Q probably benign Het
Cacna1f A G X: 7,629,405 probably null Het
Cacna2d2 T A 9: 107,465,554 I100N probably damaging Het
Ccr9 T A 9: 123,779,846 C198S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col4a3 T A 1: 82,670,192 C475S unknown Het
Cstf2t G A 19: 31,083,877 G271E possibly damaging Het
Fbxw22 T C 9: 109,385,092 R219G probably damaging Het
Gif A T 19: 11,752,232 N185I probably damaging Het
Homez A G 14: 54,858,102 F50L probably damaging Het
Hspa4l C T 3: 40,753,225 Q81* probably null Het
Ifi202b T C 1: 173,972,309 D202G possibly damaging Het
Mansc1 T A 6: 134,610,851 D121V probably damaging Het
Olfr1197 T G 2: 88,729,395 D68A probably damaging Het
Olfr538 A G 7: 140,574,771 Y206C probably benign Het
Olfr572 T A 7: 102,928,516 V296E possibly damaging Het
P2rx1 A T 11: 73,009,584 probably null Het
Phactr4 A G 4: 132,377,172 probably benign Het
Pus10 C T 11: 23,725,574 T482I probably damaging Het
Scyl2 G T 10: 89,653,009 Y206* probably null Het
Sell G A 1: 164,069,063 probably null Het
Slfn10-ps C T 11: 83,030,264 noncoding transcript Het
Ssh2 T C 11: 77,416,407 probably benign Het
Tas2r117 A G 6: 132,803,000 M34V probably benign Het
Vmn2r103 A T 17: 19,773,369 T3S probably benign Het
Vmn2r73 A T 7: 85,872,876 I85K probably damaging Het
Vps13b T C 15: 35,770,741 V2110A possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 G A 7: 81,023,998 G237R probably damaging Het
Zkscan7 A G 9: 122,888,885 E115G probably damaging Het
Zranb3 G A 1: 128,016,092 T306M probably benign Het
Other mutations in Csnk2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1452:Csnk2a2 UTSW 8 95457375 splice site probably benign
R1717:Csnk2a2 UTSW 8 95455808 splice site probably null
R4260:Csnk2a2 UTSW 8 95457399 missense probably benign 0.01
R6062:Csnk2a2 UTSW 8 95457469 missense possibly damaging 0.93
R7169:Csnk2a2 UTSW 8 95488378 missense
R8124:Csnk2a2 UTSW 8 95455947 missense
R8125:Csnk2a2 UTSW 8 95455947 missense
R8126:Csnk2a2 UTSW 8 95455947 missense
R8253:Csnk2a2 UTSW 8 95488377 missense
Posted On2015-04-16