Incidental Mutation 'R7874:Cerkl'
ID 608297
Institutional Source Beutler Lab
Gene Symbol Cerkl
Ensembl Gene ENSMUSG00000075256
Gene Name ceramide kinase-like
Synonyms Rp26
MMRRC Submission 045926-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R7874 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 79162835-79259332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79168981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 407 (R407S)
Ref Sequence ENSEMBL: ENSMUSP00000114325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143974] [ENSMUST00000156731]
AlphaFold A2AQH1
Predicted Effect probably damaging
Transcript: ENSMUST00000143974
AA Change: R407S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: R407S

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 probably benign
Transcript: ENSMUST00000156731
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (57/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C A 3: 6,685,201 (GRCm39) K84N probably damaging Het
Aacs T C 5: 125,583,271 (GRCm39) F276L possibly damaging Het
Aicda T A 6: 122,538,908 (GRCm39) I179N probably damaging Het
Anks6 T A 4: 47,049,275 (GRCm39) H210L unknown Het
Ano1 G A 7: 144,175,461 (GRCm39) R486W probably damaging Het
Aoc1l3 A G 6: 48,965,600 (GRCm39) N536S possibly damaging Het
Atp8b1 A G 18: 64,704,095 (GRCm39) V341A probably benign Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam19 A T 7: 19,620,363 (GRCm39) D89E probably damaging Het
Chl1 A G 6: 103,667,224 (GRCm39) T389A probably benign Het
Dcn A G 10: 97,346,056 (GRCm39) probably null Het
Defa39 C A 8: 22,192,812 (GRCm39) R61S possibly damaging Het
Dhtkd1 T C 2: 5,922,485 (GRCm39) Q558R possibly damaging Het
Dhx36 C A 3: 62,396,052 (GRCm39) V452L probably benign Het
Dlg5 A G 14: 24,185,687 (GRCm39) V1906A probably damaging Het
Emc4 T C 2: 112,194,178 (GRCm39) T159A probably damaging Het
Fstl5 C A 3: 76,569,093 (GRCm39) P582Q probably benign Het
Izumo1r T A 9: 14,811,875 (GRCm39) Y171F probably benign Het
Jag2 C T 12: 112,879,566 (GRCm39) V401M probably damaging Het
Jph2 C T 2: 163,217,762 (GRCm39) G305S probably damaging Het
Kbtbd13 C A 9: 65,297,584 (GRCm39) V451L probably benign Het
Map3k12 T C 15: 102,409,077 (GRCm39) T813A possibly damaging Het
Mast4 A G 13: 102,875,783 (GRCm39) L1295P probably damaging Het
Mia2 T A 12: 59,155,374 (GRCm39) D362E probably damaging Het
Mospd3 T C 5: 137,598,290 (GRCm39) Y77C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Mup8 T A 4: 60,222,420 (GRCm39) H17L probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ndnf A T 6: 65,680,413 (GRCm39) M231L probably benign Het
Obscn T G 11: 59,024,102 (GRCm39) T523P probably damaging Het
Or2t46 T C 11: 58,472,573 (GRCm39) V301A possibly damaging Het
P4htm G T 9: 108,474,148 (GRCm39) A130E probably benign Het
Phc3 A T 3: 30,990,863 (GRCm39) D439E probably benign Het
Phlpp1 A G 1: 106,317,603 (GRCm39) I1275V probably benign Het
Poln A T 5: 34,181,694 (GRCm39) I719N probably damaging Het
Ptch2 T A 4: 116,963,161 (GRCm39) L216Q possibly damaging Het
Rarres2 T A 6: 48,549,079 (GRCm39) K41N probably benign Het
Rasal3 C T 17: 32,615,681 (GRCm39) E386K possibly damaging Het
Rev3l T C 10: 39,698,491 (GRCm39) I996T possibly damaging Het
Rreb1 A G 13: 38,131,100 (GRCm39) N36S probably damaging Het
Serpinb9d T A 13: 33,386,654 (GRCm39) probably null Het
Slc14a2 A G 18: 78,203,983 (GRCm39) V526A probably benign Het
Slc45a4 T C 15: 73,456,184 (GRCm39) probably null Het
Srrm2 G A 17: 24,034,652 (GRCm39) R432H unknown Het
Th G A 7: 142,449,308 (GRCm39) R266* probably null Het
Tln1 T C 4: 43,538,041 (GRCm39) Y1853C probably damaging Het
Tln1 A T 4: 43,555,606 (GRCm39) D169E probably damaging Het
Tmcc3 G A 10: 94,386,889 (GRCm39) probably null Het
Tnxb A G 17: 34,930,417 (GRCm39) E2034G probably damaging Het
Top6bl C T 19: 4,708,451 (GRCm39) C347Y probably damaging Het
Ttc4 T C 4: 106,522,881 (GRCm39) T346A probably benign Het
Vmn2r5 A T 3: 64,398,453 (GRCm39) V842E probably damaging Het
Vmn2r82 T G 10: 79,232,345 (GRCm39) N781K probably damaging Het
Zdhhc17 A T 10: 110,817,978 (GRCm39) Y67N possibly damaging Het
Zfp273 A G 13: 67,973,558 (GRCm39) T229A probably benign Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zswim8 A G 14: 20,773,217 (GRCm39) H1769R probably damaging Het
Zzef1 T C 11: 72,750,479 (GRCm39) V929A probably benign 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
R5431:Cerkl UTSW 2 79,171,679 (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
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'- GGTTTCTCACAAGACTAAACTTGAC -3'
(R):5'- TTTTGCTGAGAAGAAACCCCAG -3'

Sequencing Primer
(F):5'- ACTTGACATTAATCTCTGAAGCATC -3'
(R):5'- CCCCAGGGACTAATAAAACTAATTTG -3'
Posted On 2019-12-20