Mutagenetix > Incidental Mutations

Incidental Mutation 'R5093:Cerkl'

387896

Institutional Source

Beutler Lab

Gene Symbol

Cerkl

Ensembl Gene

ENSMUSG00000075256

Gene Name

ceramide kinase-like

Synonyms

Rp26

MMRRC Submission

042682-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R5093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79330543-79456785 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79333523 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 66 (N66K)

Ref Sequence

ENSEMBL: ENSMUSP00000121353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099972] [ENSMUST00000143974] [ENSMUST00000156731]

Predicted Effect

probably benign
Transcript: ENSMUST00000099972

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Int_alpha	48	108	5.14e-7	SMART
Int_alpha	191	241	3.45e1	SMART
Int_alpha	247	300	1.89e-5	SMART
Int_alpha	302	358	2.25e-12	SMART
Int_alpha	364	419	1.45e-15	SMART
Int_alpha	426	483	4.52e-3	SMART
SCOP:d1m1xa2	627	770	1e-35	SMART
Blast:Int_alpha	639	676	9e-16	BLAST
SCOP:d1m1xa3	773	948	7e-42	SMART
transmembrane domain	978	1000	N/A	INTRINSIC
PDB:4HKC\|B	1003	1032	1e-13	PDB

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: N484K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: N484K

Domain	Start	End	E-Value	Type
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: ENSMUST00000147402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152549

Predicted Effect

probably damaging
Transcript: ENSMUST00000156731
AA Change: N66K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9191

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (90/91)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,474,037		probably benign	Het
Abca9	A	T	11: 110,141,532	L753Q	probably damaging	Het
Acvrl1	A	G	15: 101,134,747		probably null	Het
Adgrv1	A	T	13: 81,592,585	N141K	probably damaging	Het
Aftph	C	T	11: 20,709,619		probably null	Het
Aifm1	C	T	X: 48,482,760	G371S	probably benign	Het
Aldh3b2	A	G	19: 3,979,433	M269V	probably benign	Het
Ankrd44	T	C	1: 54,763,718	Y207C	probably damaging	Het
Arhgap15	G	T	2: 44,322,755	M412I	probably damaging	Het
Auts2	A	C	5: 131,439,458	L783R	probably damaging	Het
Baiap2l1	A	T	5: 144,278,553	Y381N	probably damaging	Het
Baiap3	T	C	17: 25,250,269	D180G	probably damaging	Het
Cant1	T	C	11: 118,411,212	Y93C	probably damaging	Het
Catsperg2	T	C	7: 29,716,998	S330G	probably benign	Het
Ccdc73	A	T	2: 105,017,766		probably benign	Het
Cdc5l	A	T	17: 45,393,041	F752L	possibly damaging	Het
Celsr2	G	T	3: 108,413,373	H708N	possibly damaging	Het
Cep170	T	A	1: 176,769,330	K487M	possibly damaging	Het
Clec11a	C	T	7: 44,304,726	A268T	probably damaging	Het
Ctnna2	C	A	6: 77,114,929		probably null	Het
Diaph3	C	A	14: 86,984,800	R416L	probably damaging	Het
Dnmbp	T	A	19: 43,849,876	N1170I	probably damaging	Het
Erbb2	G	T	11: 98,427,453	C505F	probably damaging	Het
Ercc6	T	A	14: 32,567,522	F904L	probably damaging	Het
Exo5	C	T	4: 120,922,317	G117D	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,634,957		probably benign	Het
Fbxl5	A	G	5: 43,773,554	Y64H	probably damaging	Het
Gabra4	T	A	5: 71,640,864	M207L	probably damaging	Het
Galnt15	T	C	14: 32,049,829	L277P	probably damaging	Het
Gclm	T	C	3: 122,255,612		probably null	Het
Gm5493	T	A	17: 22,747,228	C29S	possibly damaging	Het
Grik3	A	G	4: 125,670,589	T455A	probably benign	Het
Grm3	A	G	5: 9,589,766	V93A	probably benign	Het
Hdgfl2	C	T	17: 56,099,217	A535V	possibly damaging	Het
Hfm1	A	T	5: 106,901,731	S455T	probably damaging	Het
Hmcn1	T	A	1: 150,737,256	D1424V	probably benign	Het
Hsd3b6	C	T	3: 98,807,804	V91I	probably benign	Het
Ick	G	A	9: 78,140,021	V68I	probably benign	Het
Igdcc4	G	A	9: 65,122,757	S363N	possibly damaging	Het
Intu	T	C	3: 40,692,917	V740A	probably benign	Het
Itga2	C	T	13: 114,856,181	V838I	probably benign	Het
Kif9	A	G	9: 110,489,897	E143G	probably damaging	Het
Kmt2c	T	A	5: 25,409,207	I172F	probably benign	Het
Kmt2d	G	A	15: 98,856,162	R21W	probably damaging	Het
Mdh1b	A	T	1: 63,711,461	D449E	probably benign	Het
Meis1	T	C	11: 18,881,785	I418V	probably benign	Het
Nags	T	A	11: 102,146,569	M162K	probably damaging	Het
Nufip1	A	G	14: 76,110,973	D14G	probably benign	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr166	T	A	16: 19,487,477	I213N	probably damaging	Het
Olfr846	T	G	9: 19,360,978	I126L	probably damaging	Het
Osmr	A	C	15: 6,821,079	V681G	probably damaging	Het
Paxip1	G	T	5: 27,766,284	Q356K	unknown	Het
Pcdhac1	T	A	18: 37,090,542	F136Y	probably damaging	Het
Pla2g6	A	G	15: 79,287,128	V699A	probably benign	Het
Plcb3	A	T	19: 6,966,210	V107E	probably damaging	Het
Plch1	T	A	3: 63,773,715	I164F	probably damaging	Het
Plpp3	A	T	4: 105,194,880	I73F	probably damaging	Het
Plscr5	G	A	9: 92,198,521	R20Q	probably benign	Het
Prdm10	G	A	9: 31,341,483	R504Q	probably damaging	Het
Prss58	T	C	6: 40,897,817	Y30C	probably damaging	Het
Psg19	T	A	7: 18,796,969	T87S	probably benign	Het
Ptpn22	T	G	3: 103,882,102	M294R	probably benign	Het
Rai1	T	A	11: 60,188,656	M1182K	probably benign	Het
Sez6	T	A	11: 77,976,562	V795D	possibly damaging	Het
Shcbp1	A	G	8: 4,739,214	V535A	possibly damaging	Het
Skint9	A	G	4: 112,389,250	Y222H	probably benign	Het
Slc13a3	T	A	2: 165,411,896	I446F	probably damaging	Het
Slc2a3	C	T	6: 122,737,237	R57H	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Spata31d1b	A	T	13: 59,716,024	N329Y	possibly damaging	Het
Strbp	C	T	2: 37,627,487	R192K	probably damaging	Het
Tctn3	A	T	19: 40,612,104	L14Q	probably damaging	Het
Tenm2	T	A	11: 36,944,162	D2V	probably damaging	Het
Tln2	T	G	9: 67,334,314	K1003T	probably benign	Het
Tmem63b	T	C	17: 45,660,874	E805G	probably damaging	Het
Trhr	A	T	15: 44,197,584	N167Y	probably damaging	Het
Trpc2	A	G	7: 102,095,183	R721G	probably benign	Het
Ttn	C	A	2: 76,870,923		probably benign	Het
Wdr91	A	G	6: 34,892,353	I412T	probably damaging	Het
Zcchc4	T	A	5: 52,796,610	S211T	probably benign	Het

Other mutations in Cerkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02809:Cerkl	APN	2	79342202	missense	possibly damaging	0.54
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
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
R8190:Cerkl	UTSW	2	79333557	missense	probably benign	0.17
R8333:Cerkl	UTSW	2	79338578	missense	possibly damaging	0.65
R8470:Cerkl	UTSW	2	79342407	missense	probably benign	0.08
Z1176:Cerkl	UTSW	2	79368765	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAATGTGCTAACTTTCTGGC -3'
(R):5'- GGCTATCTGGTTAAAGTTTCAAAGC -3'

Sequencing Primer
(F):5'- ATGTGCTAACTTTCTGGCTTTTAATC -3'
(R):5'- ATTCTAATAGGGGCCACCATG -3'

Posted On

2016-06-06