Mutagenetix > Incidental Mutation

Incidental Mutation 'R6249:Cerkl'

505827

Institutional Source

Beutler Lab

Gene Symbol

Cerkl

Ensembl Gene

ENSMUSG00000075256

Gene Name

ceramide kinase-like

Synonyms

Rp26

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R6249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79162835-79259332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79199122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 156 (L156P)

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: ENSMUST00000130499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143602

Predicted Effect

probably damaging
Transcript: ENSMUST00000143974
AA Change: L156P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: L156P

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: ENSMUST00000152549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156830

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 115,702,505 (GRCm39)	S90C	probably damaging	Het
Abca9	T	C	11: 110,036,453 (GRCm39)	D552G	probably benign	Het
Adgrb3	A	G	1: 25,471,639 (GRCm39)	L502P	probably damaging	Het
Agmo	T	C	12: 37,293,837 (GRCm39)		probably null	Het
Ank3	A	G	10: 69,658,906 (GRCm39)		probably null	Het
Apol11b	G	T	15: 77,519,537 (GRCm39)	T181K	probably benign	Het
Arap2	G	T	5: 62,803,536 (GRCm39)	H1244N	probably damaging	Het
Arid1b	A	T	17: 5,329,636 (GRCm39)	M838L	possibly damaging	Het
Aste1	G	A	9: 105,273,816 (GRCm39)	V19I	probably benign	Het
B3gnt3	A	T	8: 72,145,306 (GRCm39)	M354K	probably damaging	Het
Calcr	A	T	6: 3,692,711 (GRCm39)	M381K	possibly damaging	Het
Ccdc63	A	C	5: 122,263,062 (GRCm39)	L160W	probably benign	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddb1	C	A	19: 10,583,084 (GRCm39)	Y5*	probably null	Het
Fignl2	T	C	15: 100,952,060 (GRCm39)	E74G	possibly damaging	Het
Glb1l2	C	T	9: 26,676,850 (GRCm39)		probably benign	Het
Gm16503	A	G	4: 147,625,508 (GRCm39)	M1V	probably null	Het
Gm2696	A	C	10: 77,630,646 (GRCm39)		probably benign	Het
Gm45844	A	G	7: 7,243,092 (GRCm39)	S20P	probably benign	Het
Gm7579	C	T	7: 141,765,743 (GRCm39)	P50S	unknown	Het
Idh1	A	G	1: 65,205,378 (GRCm39)	S196P	probably damaging	Het
Il1rap	T	C	16: 26,511,598 (GRCm39)	V214A	possibly damaging	Het
Kctd17	C	G	15: 78,314,239 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,105,599 (GRCm39)	V2036L	probably benign	Het
Lars1	G	T	18: 42,390,271 (GRCm39)		probably null	Het
Mdn1	T	A	4: 32,708,484 (GRCm39)	V1670E	possibly damaging	Het
Mtmr7	A	T	8: 41,034,524 (GRCm39)	I266N	probably damaging	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 26,999,349 (GRCm39)		probably benign	Het
Nckap5	T	C	1: 125,952,667 (GRCm39)	E1295G	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Or13p3	A	G	4: 118,566,910 (GRCm39)	Y102C	probably damaging	Het
Or2a5	G	T	6: 42,874,238 (GRCm39)	L284F	probably damaging	Het
Or2aj4	T	A	16: 19,384,725 (GRCm39)	N303Y	probably damaging	Het
Or51q1	A	T	7: 103,628,818 (GRCm39)	S140C	possibly damaging	Het
Or5h22	T	C	16: 58,894,795 (GRCm39)	Y216C	probably damaging	Het
Or8b44	T	G	9: 38,410,880 (GRCm39)	I305R	unknown	Het
Pcdha4	T	A	18: 37,086,729 (GRCm39)	V304E	probably damaging	Het
Pde6c	T	C	19: 38,147,008 (GRCm39)		probably null	Het
Pebp4	A	T	14: 70,297,099 (GRCm39)	T213S	possibly damaging	Het
Phf2	C	A	13: 48,959,348 (GRCm39)	R886L	unknown	Het
Pik3ca	A	T	3: 32,515,712 (GRCm39)	H795L	probably damaging	Het
Pisd	G	T	5: 32,896,188 (GRCm39)	T379N	probably damaging	Het
Pld2	T	C	11: 70,446,196 (GRCm39)	L732P	probably damaging	Het
Pskh1	A	G	8: 106,639,617 (GRCm39)	D99G	possibly damaging	Het
Rest	A	G	5: 77,429,071 (GRCm39)	T497A	probably benign	Het
Rps24	C	T	14: 24,543,530 (GRCm39)	T108M	possibly damaging	Het
Rtel1	C	T	2: 180,993,475 (GRCm39)	R566C	probably damaging	Het
Scyl2	A	G	10: 89,493,719 (GRCm39)	S350P	possibly damaging	Het
Slc38a7	G	T	8: 96,564,302 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,779,009 (GRCm39)	I674T	probably benign	Het
Spata31f1a	A	T	4: 42,850,528 (GRCm39)	W543R	probably benign	Het
Surf4	C	A	2: 26,816,899 (GRCm39)	E39D	probably damaging	Het
Tas2r144	T	A	6: 42,192,291 (GRCm39)	Y10*	probably null	Het
Thbs4	C	T	13: 92,911,215 (GRCm39)	G323R	probably damaging	Het
Top2b	A	G	14: 16,399,006 (GRCm38)	Y542C	probably damaging	Het
Trim61	A	G	8: 65,467,108 (GRCm39)	V51A	probably benign	Het
Tyrp1	T	A	4: 80,769,009 (GRCm39)	I501N	possibly damaging	Het
U2surp	C	T	9: 95,382,869 (GRCm39)	D32N	probably benign	Het
Ush1c	T	C	7: 45,864,383 (GRCm39)	Y411C	probably damaging	Het
Vwa7	G	A	17: 35,242,365 (GRCm39)	V490I	probably benign	Het
Xylt1	G	T	7: 117,266,528 (GRCm39)	A849S	probably benign	Het
Ythdc1	T	A	5: 86,979,815 (GRCm39)	N599K	possibly damaging	Het
Zbtb38	T	A	9: 96,568,045 (GRCm39)	Y1013F	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zswim9	T	C	7: 12,994,903 (GRCm39)	S418G	probably damaging	Het

Other mutations in Cerkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGGAAGAAAGCCCTACTGTTAGG -3'
(R):5'- CGCATCGTGTTTCACCTGTAG -3'

Sequencing Primer
(F):5'- CACCGTCCGTGCTTAGATAGGATG -3'
(R):5'- TTTCACCTGTAGGGAAGCAGC -3'

Posted On

2018-02-28