Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Cerkl'

727430

Institutional Source

Beutler Lab

Gene Symbol

Cerkl

Ensembl Gene

ENSMUSG00000075256

Gene Name

ceramide kinase-like

Synonyms

Rp26

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9659 (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 C at 79223322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 133 (D133G)

Ref Sequence

ENSEMBL: ENSMUSP00000114325 (fasta)

Gene Model

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

AlphaFold

A2AQH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143974
AA Change: D133G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114325
Gene: ENSMUSG00000075256
AA Change: D133G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,311,187 (GRCm39)	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,541,913 (GRCm39)	I545V	probably damaging	Het
Cep295	C	A	9: 15,233,846 (GRCm39)	A2317S	probably benign	Het
Cited4	T	G	4: 120,524,543 (GRCm39)	C182G	probably damaging	Het
Col6a5	T	A	9: 105,811,034 (GRCm39)	K828N	unknown	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ep300	A	G	15: 81,505,273 (GRCm39)	Y631C	unknown	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Fbn2	C	G	18: 58,342,654 (GRCm39)	R75P	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,132,776 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Helz2	T	C	2: 180,882,025 (GRCm39)	D256G	probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hpgd	C	G	8: 56,772,075 (GRCm39)	C182W	probably damaging	Het
Htr5b	A	G	1: 121,455,428 (GRCm39)	L164P	possibly damaging	Het
Kmo	T	C	1: 175,486,085 (GRCm39)	F403L	probably damaging	Het
Ly75	C	A	2: 60,168,665 (GRCm39)	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Myo18b	T	C	5: 113,022,382 (GRCm39)	T337A	unknown	Het
Nlrp1b	T	A	11: 71,073,132 (GRCm39)	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Or10al6	T	G	17: 38,082,880 (GRCm39)	F112C	probably damaging	Het
Or1l4	T	A	2: 37,091,897 (GRCm39)	C215S	possibly damaging	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,625,654 (GRCm39)	Y1832C	unknown	Het
Prpf4	G	A	4: 62,334,296 (GRCm39)		probably null	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,587,174 (GRCm39)	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,318,673 (GRCm39)	H697Q	probably benign	Het
Reg3a	T	G	6: 78,360,574 (GRCm39)	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tcstv2a	T	A	13: 120,725,754 (GRCm39)	D139E	probably damaging	Het
Tlk2	T	C	11: 105,131,263 (GRCm39)	I203T	probably benign	Het
Tmem120b	T	G	5: 123,253,788 (GRCm39)	H279Q	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,254 (GRCm39)	L2298I		Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vcan	A	G	13: 89,839,860 (GRCm39)	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,273,343 (GRCm39)	S269C	probably damaging	Het
Zfand4	T	G	6: 116,282,588 (GRCm39)	Y54D	probably damaging	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,346,814 (GRCm39)	E141G	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
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
Z1176:Cerkl	UTSW	2	79,199,109 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCCAGAAAAGTAACTTGCGGG -3'
(R):5'- GAGTCCCTAGAACTTGAAGACATC -3'

Sequencing Primer
(F):5'- TTACAGATGGTTGCGAGCCAC -3'
(R):5'- TCTGCTTGAAGGAGCAAC -3'

Posted On

2022-10-06