Incidental Mutation 'IGL02809:Cerkl'
ID360508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cerkl
Ensembl Gene ENSMUSG00000075256
Gene Nameceramide kinase-like
SynonymsRp26
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.272) question?
Stock #IGL02809
Quality Score
Status
Chromosome2
Chromosomal Location79330543-79456785 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79342202 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 349 (S349P)
Ref Sequence ENSEMBL: ENSMUSP00000114325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143974] [ENSMUST00000156731]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143602
Predicted Effect possibly damaging
Transcript: ENSMUST00000143974
AA Change: S349P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: S349P

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 70 80 N/A INTRINSIC
Pfam:DAGK_cat 152 293 2.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153602
Predicted Effect probably benign
Transcript: ENSMUST00000156731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156830
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit retinal apoptosis and decreased amplitudes and increased implicit time of oscillatory potentials. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Camkmt A T 17: 85,394,648 N180I probably damaging Het
Card9 A G 2: 26,356,864 M324T probably benign Het
Cenpf T C 1: 189,682,358 probably benign Het
Ctsj C T 13: 61,003,160 S162N probably damaging Het
Fancm A G 12: 65,121,667 I1601M possibly damaging Het
Fpr-rs3 T A 17: 20,623,963 R305S probably damaging Het
Gpatch8 A G 11: 102,487,590 V178A unknown Het
Itga4 A G 2: 79,280,577 Y253C probably damaging Het
Kntc1 T C 5: 123,776,582 F655S probably damaging Het
Manba A G 3: 135,547,560 D414G probably damaging Het
Nfkbid C T 7: 30,425,235 T7I possibly damaging Het
Ngly1 G T 14: 16,281,791 C349F probably damaging Het
Palld T C 8: 61,515,247 N1095S probably damaging Het
Sp100 C T 1: 85,681,124 R325W probably damaging Het
Stxbp4 A G 11: 90,600,184 probably null Het
Tle2 C A 10: 81,586,362 probably null Het
Tlr13 G T X: 106,156,691 probably benign Het
Ttc32 G A 12: 9,035,879 R142Q possibly damaging Het
Ubap2l G A 3: 90,021,246 T526M probably damaging Het
Uggt2 T C 14: 119,090,738 E124G probably benign Het
Vmn1r72 A G 7: 11,670,003 F173L probably benign Het
Xab2 T C 8: 3,610,175 S851G probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Cerkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Cerkl APN 2 79341499 missense probably benign 0.00
IGL01330:Cerkl APN 2 79368781 missense possibly damaging 0.90
IGL01468:Cerkl APN 2 79343215 critical splice donor site probably null
IGL01946:Cerkl APN 2 79393020 missense probably benign 0.19
IGL02027:Cerkl APN 2 79341286 unclassified probably benign
IGL03293:Cerkl APN 2 79342375 missense probably damaging 0.98
R0076:Cerkl UTSW 2 79343289 missense possibly damaging 0.93
R0453:Cerkl UTSW 2 79342451 missense probably benign 0.25
R0918:Cerkl UTSW 2 79333629 missense probably benign 0.00
R1533:Cerkl UTSW 2 79341357 missense possibly damaging 0.94
R4003:Cerkl UTSW 2 79428794 missense possibly damaging 0.86
R5078:Cerkl UTSW 2 79393008 missense probably benign 0.29
R5093:Cerkl UTSW 2 79333523 missense probably damaging 1.00
R5431:Cerkl UTSW 2 79341335 missense probably damaging 1.00
R5522:Cerkl UTSW 2 79392984 missense probably benign 0.44
R6249:Cerkl UTSW 2 79368778 missense probably damaging 1.00
R7036:Cerkl UTSW 2 79341378 missense probably benign 0.03
R7201:Cerkl UTSW 2 79333590 missense probably benign 0.00
R7326:Cerkl UTSW 2 79332605 missense probably benign 0.37
R7343:Cerkl UTSW 2 79428760 missense probably damaging 1.00
R7833:Cerkl UTSW 2 79341380 missense probably benign 0.01
R7874:Cerkl UTSW 2 79338637 missense probably damaging 1.00
R7916:Cerkl UTSW 2 79341380 missense probably benign 0.01
R7957:Cerkl UTSW 2 79338637 missense probably damaging 1.00
Z1176:Cerkl UTSW 2 79368765 missense not run
Posted On2015-12-18