Incidental Mutation 'R0318:Cerk'
ID 25550
Institutional Source Beutler Lab
Gene Symbol Cerk
Ensembl Gene ENSMUSG00000035891
Gene Name ceramide kinase
Synonyms D330016D08Rik
MMRRC Submission 038528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0318 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 86023329-86070342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86035766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 254 (A254T)
Ref Sequence ENSEMBL: ENSMUSP00000038203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044332] [ENSMUST00000156546]
AlphaFold Q8K4Q7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044332
AA Change: A254T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: A254T

DomainStartEndE-ValueType
Blast:PH 8 126 9e-39 BLAST
Pfam:DAGK_cat 132 274 1.1e-31 PFAM
low complexity region 356 367 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150767
Predicted Effect probably benign
Transcript: ENSMUST00000156546
SMART Domains Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891

DomainStartEndE-ValueType
low complexity region 51 62 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157732
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,370 (GRCm39) L79Q probably damaging Het
Add1 T C 5: 34,782,684 (GRCm39) V130A probably damaging Het
Ankrd23 G T 1: 36,573,153 (GRCm39) T73K probably benign Het
Blk A G 14: 63,611,646 (GRCm39) Y430H probably damaging Het
C3 C T 17: 57,531,709 (GRCm39) V272M probably damaging Het
Ces2a G A 8: 105,467,456 (GRCm39) A494T probably damaging Het
Cfap46 T C 7: 139,234,482 (GRCm39) Y258C probably damaging Het
Chaf1a C T 17: 56,369,227 (GRCm39) T486I possibly damaging Het
Colec12 A G 18: 9,848,446 (GRCm39) N208S possibly damaging Het
Coro7 T A 16: 4,493,671 (GRCm39) H63L probably benign Het
Cps1 T A 1: 67,216,173 (GRCm39) W833R probably damaging Het
Csmd3 A T 15: 47,522,549 (GRCm39) W2707R probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Ddx50 A T 10: 62,478,616 (GRCm39) I190K probably damaging Het
Dnmt3l G A 10: 77,890,889 (GRCm39) V264M probably damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Fam163a A G 1: 155,955,715 (GRCm39) C26R probably damaging Het
Fam83h A G 15: 75,875,478 (GRCm39) S620P probably benign Het
Fcna A G 2: 25,515,071 (GRCm39) S263P probably benign Het
Fnip2 A T 3: 79,419,685 (GRCm39) S165R probably damaging Het
Fpr-rs3 T C 17: 20,844,410 (GRCm39) T244A probably benign Het
Gpr152 T C 19: 4,193,541 (GRCm39) S361P possibly damaging Het
Grm5 A T 7: 87,252,175 (GRCm39) I142L probably damaging Het
Gucy2g A G 19: 55,226,230 (GRCm39) S229P probably benign Het
Htr7 C T 19: 35,946,886 (GRCm39) G376D probably damaging Het
Irgc T C 7: 24,131,896 (GRCm39) D307G probably benign Het
Irs1 A T 1: 82,266,381 (GRCm39) S612T probably benign Het
Maml2 C T 9: 13,531,890 (GRCm39) T368I probably damaging Het
Mapkapk2 A G 1: 131,025,072 (GRCm39) V64A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nptx1 C T 11: 119,433,367 (GRCm39) E411K probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5ak25 C A 2: 85,268,581 (GRCm39) R307M possibly damaging Het
Pcgf5 A T 19: 36,389,590 (GRCm39) K22N possibly damaging Het
Psmd9 C A 5: 123,372,712 (GRCm39) A65E possibly damaging Het
Sh3bp1 A G 15: 78,795,907 (GRCm39) T679A probably damaging Het
Sipa1l2 G A 8: 126,174,436 (GRCm39) P1281S possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc25a24 A G 3: 109,064,316 (GRCm39) M222V probably benign Het
Smg9 T C 7: 24,120,313 (GRCm39) F429S possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorl1 T A 9: 41,993,250 (GRCm39) Y258F probably damaging Het
Srp72 C T 5: 77,132,047 (GRCm39) T242I probably benign Het
Stc1 A T 14: 69,275,867 (GRCm39) Q220L probably damaging Het
Tas2r122 T C 6: 132,688,795 (GRCm39) T33A possibly damaging Het
Tbc1d10b A G 7: 126,798,206 (GRCm39) L645P probably damaging Het
Thoc2l T C 5: 104,665,619 (GRCm39) F47S probably benign Het
Timd4 T A 11: 46,727,898 (GRCm39) H272Q probably benign Het
Ttll5 T G 12: 85,923,368 (GRCm39) probably null Het
Veph1 G T 3: 65,964,680 (GRCm39) S783Y probably damaging Het
Vmn1r230 T C 17: 21,067,078 (GRCm39) L89S possibly damaging Het
Xcr1 A G 9: 123,685,219 (GRCm39) V165A possibly damaging Het
Zfp286 T C 11: 62,675,788 (GRCm39) D58G probably damaging Het
Zfyve26 C T 12: 79,323,055 (GRCm39) R897H probably damaging Het
Other mutations in Cerk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Cerk APN 15 86,043,343 (GRCm39) missense probably benign 0.02
IGL01653:Cerk APN 15 86,033,552 (GRCm39) nonsense probably null
IGL01732:Cerk APN 15 86,030,517 (GRCm39) missense possibly damaging 0.68
IGL03107:Cerk APN 15 86,027,014 (GRCm39) missense probably benign 0.00
resnick UTSW 15 86,040,869 (GRCm39) splice site probably null
BB007:Cerk UTSW 15 86,028,920 (GRCm39) missense possibly damaging 0.83
BB017:Cerk UTSW 15 86,028,920 (GRCm39) missense possibly damaging 0.83
IGL02837:Cerk UTSW 15 86,028,896 (GRCm39) nonsense probably null
R0517:Cerk UTSW 15 86,040,849 (GRCm39) missense probably damaging 1.00
R1052:Cerk UTSW 15 86,033,565 (GRCm39) missense possibly damaging 0.95
R1640:Cerk UTSW 15 86,033,601 (GRCm39) missense probably damaging 0.98
R2049:Cerk UTSW 15 86,027,009 (GRCm39) missense probably benign
R2885:Cerk UTSW 15 86,027,084 (GRCm39) missense probably damaging 1.00
R3887:Cerk UTSW 15 86,033,532 (GRCm39) missense possibly damaging 0.95
R3931:Cerk UTSW 15 86,039,311 (GRCm39) nonsense probably null
R4033:Cerk UTSW 15 86,039,228 (GRCm39) missense possibly damaging 0.47
R4234:Cerk UTSW 15 86,026,989 (GRCm39) missense probably benign 0.00
R4945:Cerk UTSW 15 86,040,802 (GRCm39) missense probably benign 0.44
R5742:Cerk UTSW 15 86,025,773 (GRCm39) missense probably damaging 1.00
R6160:Cerk UTSW 15 86,026,974 (GRCm39) missense probably benign 0.43
R6309:Cerk UTSW 15 86,040,869 (GRCm39) splice site probably null
R7002:Cerk UTSW 15 86,040,795 (GRCm39) missense possibly damaging 0.56
R7360:Cerk UTSW 15 86,043,327 (GRCm39) missense probably damaging 1.00
R7930:Cerk UTSW 15 86,028,920 (GRCm39) missense possibly damaging 0.83
R9406:Cerk UTSW 15 86,028,787 (GRCm39) missense possibly damaging 0.80
R9698:Cerk UTSW 15 86,026,995 (GRCm39) missense probably benign 0.30
R9744:Cerk UTSW 15 86,033,491 (GRCm39) missense probably damaging 1.00
X0067:Cerk UTSW 15 86,030,547 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- gttAAGAGGCAACGGCGAGACT -3'
(R):5'- GCCACATACCTTCCAGAGCCTTAGA -3'

Sequencing Primer
(F):5'- cgattcccagcacccac -3'
(R):5'- atccacctgcctctgcc -3'
Posted On 2013-04-16