Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Cerkl'

635052

Institutional Source

Beutler Lab

Gene Symbol

Cerkl

Ensembl Gene

ENSMUSG00000075256

Gene Name

ceramide kinase-like

Synonyms

Rp26

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

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

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79162835-79259332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79163901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 473 (H473L)

Ref Sequence

ENSEMBL: ENSMUSP00000114325 (fasta)

Gene Model

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

AlphaFold

A2AQH1

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

probably benign
Transcript: ENSMUST00000143974
AA Change: H473L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: H473L

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

probably benign
Transcript: ENSMUST00000156731
AA Change: H55L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Cpne6	T	C	14: 55,749,485 (GRCm39)	M15T	probably benign	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Or5p63	A	G	7: 107,811,014 (GRCm39)	F241L	possibly damaging	Het
Pabpc2	G	A	18: 39,908,520 (GRCm39)	R595Q	probably benign	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tgm1	C	T	14: 55,942,341 (GRCm39)	G670D	probably damaging	Het
Tmc8	T	G	11: 117,682,186 (GRCm39)		probably null	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,810,911 (GRCm39)	I225K	possibly damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	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
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
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'- ACAATGTGCTAACTTTCTGGC -3'
(R):5'- ACCTGGGGCTATCTGGTTAAAG -3'

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

Posted On

2020-07-13