Incidental Mutation 'R5522:Cerkl'
ID 431592
Institutional Source Beutler Lab
Gene Symbol Cerkl
Ensembl Gene ENSMUSG00000075256
Gene Name ceramide kinase-like
Synonyms Rp26
MMRRC Submission 043081-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R5522 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 79162835-79259332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79223328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 131 (H131R)
Ref Sequence ENSEMBL: ENSMUSP00000114325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143974]
AlphaFold A2AQH1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143602
Predicted Effect probably benign
Transcript: ENSMUST00000143974
AA Change: H131R

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: H131R

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: ENSMUST00000145766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153602
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,649,704 (GRCm39) Y121H possibly damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Atp13a2 T A 4: 140,731,671 (GRCm39) probably null Het
Cd69 A T 6: 129,248,379 (GRCm39) S36T probably damaging Het
Ceacam5 A T 7: 17,449,005 (GRCm39) I124L probably benign Het
Cfap57 A T 4: 118,453,085 (GRCm39) N539K probably benign Het
Cyp4x1 C A 4: 114,979,174 (GRCm39) W141L probably damaging Het
Dlgap1 T C 17: 70,823,993 (GRCm39) probably null Het
Dnaaf9 G A 2: 130,656,222 (GRCm39) probably benign Het
Dst T C 1: 34,296,954 (GRCm39) I5781T possibly damaging Het
Epha2 T A 4: 141,035,867 (GRCm39) V101E probably damaging Het
Exph5 T C 9: 53,285,613 (GRCm39) F898S possibly damaging Het
Fyco1 G A 9: 123,623,836 (GRCm39) R1398* probably null Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grb10 T C 11: 11,886,746 (GRCm39) I508V probably benign Het
Igf1r C A 7: 67,833,258 (GRCm39) Q473K probably damaging Het
Ighv1-66 T A 12: 115,556,755 (GRCm39) D109V probably damaging Het
Ipmk C A 10: 71,199,304 (GRCm39) T55K probably benign Het
Kdm2b A G 5: 123,087,225 (GRCm39) Y192H probably damaging Het
Krt32 A T 11: 99,977,497 (GRCm39) probably null Het
Kti12 T A 4: 108,705,620 (GRCm39) L178Q possibly damaging Het
Mchr1 A T 15: 81,122,211 (GRCm39) K320N possibly damaging Het
Mdn1 T C 4: 32,685,783 (GRCm39) L858S probably damaging Het
Myo3a T A 2: 22,464,353 (GRCm39) F198Y probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfatc1 T C 18: 80,696,744 (GRCm39) T647A probably benign Het
Nuf2 A G 1: 169,326,453 (GRCm39) Y433H probably damaging Het
Nup210l T C 3: 90,061,972 (GRCm39) V717A probably benign Het
Or3a1b A G 11: 74,012,484 (GRCm39) Y123C probably damaging Het
Or5h17 A T 16: 58,820,268 (GRCm39) L73F probably benign Het
Or6c35 A T 10: 129,168,798 (GRCm39) D16V probably damaging Het
Pbrm1 A G 14: 30,811,520 (GRCm39) Y1210C probably damaging Het
Pcdhb6 A G 18: 37,467,402 (GRCm39) I108V probably benign Het
Plac8 T A 5: 100,710,584 (GRCm39) T6S probably benign Het
Plbd1 A T 6: 136,594,298 (GRCm39) V317E probably benign Het
Rars1 A T 11: 35,708,195 (GRCm39) Y406* probably null Het
Scamp3 T C 3: 89,084,929 (GRCm39) F11L possibly damaging Het
Sctr A G 1: 119,964,146 (GRCm39) N142S probably benign Het
Sh2d4a T C 8: 68,749,349 (GRCm39) S128P probably benign Het
Snrnp70 C T 7: 45,026,601 (GRCm39) probably benign Het
Taf3 T C 2: 9,945,816 (GRCm39) K596R probably damaging Het
Tango6 T C 8: 107,422,230 (GRCm39) probably null Het
Taok3 A G 5: 117,411,822 (GRCm39) T414A probably benign Het
Tmem104 G A 11: 115,079,149 (GRCm39) probably null Het
Tmem231 T A 8: 112,645,042 (GRCm39) S155C possibly damaging Het
Tssk3 G A 4: 129,383,343 (GRCm39) R110W possibly damaging Het
Ugt2b37 T C 5: 87,388,759 (GRCm39) T485A probably benign Het
Unc5b T C 10: 60,613,974 (GRCm39) K292E possibly damaging Het
Upf3a T A 8: 13,845,497 (GRCm39) probably null Het
Usp24 T A 4: 106,229,918 (GRCm39) V797E probably damaging Het
Vcan T C 13: 89,839,929 (GRCm39) T1872A possibly damaging Het
Vmn1r195 A G 13: 22,463,120 (GRCm39) M197V probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Xab2 A T 8: 3,661,718 (GRCm39) D578E probably benign Het
Xpo7 A T 14: 70,909,090 (GRCm39) Y810* probably null Het
Zcchc2 A G 1: 105,951,426 (GRCm39) N587S probably benign Het
Zfp189 C T 4: 49,529,739 (GRCm39) R281* probably null Het
Zranb1 T C 7: 132,585,678 (GRCm39) *735R probably null 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
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'- CCCAGAAAAGTAACTTGCGGG -3'
(R):5'- AGCAAAGAAGAGTCCCTAGAACTTG -3'

Sequencing Primer
(F):5'- GAGCCACTAAGTGCTGAGTCTTC -3'
(R):5'- GAGTCCCTAGAACTTGAAGACATC -3'
Posted On 2016-10-05