Incidental Mutation 'R5431:Cerkl'
ID 428032
Institutional Source Beutler Lab
Gene Symbol Cerkl
Ensembl Gene ENSMUSG00000075256
Gene Name ceramide kinase-like
Synonyms Rp26
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 79162835-79259332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79171679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 393 (C393Y)
Ref Sequence ENSEMBL: ENSMUSP00000114325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143974] [ENSMUST00000156731]
AlphaFold A2AQH1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143602
Predicted Effect probably damaging
Transcript: ENSMUST00000143974
AA Change: C393Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: C393Y

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 noncoding transcript
Transcript: ENSMUST00000156830
Predicted Effect probably benign
Transcript: ENSMUST00000156731
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Hdac4 T A 1: 91,900,512 (GRCm39) R54* probably null Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G possibly damaging Het
Other mutations in Cerkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Cerkl APN 2 79,171,843 (GRCm39) missense probably benign 0.00
IGL01330:Cerkl APN 2 79,199,125 (GRCm39) missense possibly damaging 0.90
IGL01468:Cerkl APN 2 79,173,559 (GRCm39) critical splice donor site probably null
IGL01946:Cerkl APN 2 79,223,364 (GRCm39) missense probably benign 0.19
IGL02027:Cerkl APN 2 79,171,630 (GRCm39) unclassified probably benign
IGL02809:Cerkl APN 2 79,172,546 (GRCm39) missense possibly damaging 0.54
IGL03293:Cerkl APN 2 79,172,719 (GRCm39) missense probably damaging 0.98
R0076:Cerkl UTSW 2 79,173,633 (GRCm39) missense possibly damaging 0.93
R0453:Cerkl UTSW 2 79,172,795 (GRCm39) missense probably benign 0.25
R0918:Cerkl UTSW 2 79,163,973 (GRCm39) missense probably benign 0.00
R1533:Cerkl UTSW 2 79,171,701 (GRCm39) missense possibly damaging 0.94
R4003:Cerkl UTSW 2 79,259,138 (GRCm39) missense possibly damaging 0.86
R5078:Cerkl UTSW 2 79,223,352 (GRCm39) missense probably benign 0.29
R5093:Cerkl UTSW 2 79,163,867 (GRCm39) missense probably damaging 1.00
R5522:Cerkl UTSW 2 79,223,328 (GRCm39) missense probably benign 0.44
R6249:Cerkl UTSW 2 79,199,122 (GRCm39) missense probably damaging 1.00
R7036:Cerkl UTSW 2 79,171,722 (GRCm39) missense probably benign 0.03
R7201:Cerkl UTSW 2 79,163,934 (GRCm39) missense probably benign 0.00
R7326:Cerkl UTSW 2 79,162,949 (GRCm39) missense probably benign 0.37
R7343:Cerkl UTSW 2 79,259,104 (GRCm39) missense probably damaging 1.00
R7833:Cerkl UTSW 2 79,171,724 (GRCm39) missense probably benign 0.01
R7874:Cerkl UTSW 2 79,168,981 (GRCm39) missense probably damaging 1.00
R8190:Cerkl UTSW 2 79,163,901 (GRCm39) missense probably benign 0.17
R8333:Cerkl UTSW 2 79,168,922 (GRCm39) missense possibly damaging 0.65
R8470:Cerkl UTSW 2 79,172,751 (GRCm39) missense probably benign 0.08
R9223:Cerkl UTSW 2 79,171,674 (GRCm39) missense probably damaging 0.99
R9659:Cerkl UTSW 2 79,223,322 (GRCm39) missense possibly damaging 0.51
Z1176:Cerkl UTSW 2 79,199,109 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAAACTACTTCTCTAACCACAATTCTT -3'
(R):5'- TGTCGTTTTACTTCTAGAAAATCACAG -3'

Sequencing Primer
(F):5'- CAGTCATGTCCAGAAGGTACTGTC -3'
(R):5'- CAGAGATCTGCAGAATCTGGTGAGTC -3'
Posted On 2016-09-01