Incidental Mutation 'R4003:Cerkl'
ID |
311332 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cerkl
|
Ensembl Gene |
ENSMUSG00000075256 |
Gene Name |
ceramide kinase-like |
Synonyms |
Rp26 |
MMRRC Submission |
040945-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.388)
|
Stock # |
R4003 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
79162835-79259332 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 79259138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 33
(R33L)
|
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 |
possibly damaging
Transcript: ENSMUST00000143974
AA Change: R33L
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114325 Gene: ENSMUSG00000075256 AA Change: R33L
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
|
Meta Mutation Damage Score |
0.1030 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (42/43) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
A |
T |
7: 143,451,040 (GRCm39) |
M350L |
probably benign |
Het |
Adgrf4 |
A |
T |
17: 42,980,650 (GRCm39) |
I145N |
probably damaging |
Het |
Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
Bmp8b |
T |
A |
4: 123,015,671 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
Csnk2a1 |
A |
G |
2: 152,092,495 (GRCm39) |
E22G |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,720,977 (GRCm39) |
K2834E |
probably damaging |
Het |
Eftud2 |
C |
T |
11: 102,750,936 (GRCm39) |
E286K |
possibly damaging |
Het |
Elapor2 |
A |
C |
5: 9,490,877 (GRCm39) |
E629A |
probably benign |
Het |
Fam222b |
C |
T |
11: 78,045,755 (GRCm39) |
P439S |
probably benign |
Het |
Gsn |
A |
G |
2: 35,173,995 (GRCm39) |
K35E |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,844 (GRCm39) |
Q358H |
probably damaging |
Het |
L3hypdh |
T |
C |
12: 72,131,890 (GRCm39) |
D14G |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,899 (GRCm39) |
I1263T |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
Mylk |
C |
A |
16: 34,783,947 (GRCm39) |
A1371D |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,838,689 (GRCm39) |
|
probably null |
Het |
Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,650 (GRCm39) |
|
probably null |
Het |
Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,408,037 (GRCm39) |
|
probably benign |
Het |
Rabep1 |
T |
A |
11: 70,808,193 (GRCm39) |
M340K |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,034 (GRCm39) |
D1945G |
probably null |
Het |
Slc22a2 |
A |
T |
17: 12,831,337 (GRCm39) |
I376F |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,550,474 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
C |
4: 52,462,897 (GRCm39) |
V629A |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,693,988 (GRCm39) |
D633E |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,341,959 (GRCm39) |
V78M |
probably damaging |
Het |
Tnfaip2 |
C |
T |
12: 111,417,778 (GRCm39) |
|
probably benign |
Het |
Tnfrsf25 |
T |
C |
4: 152,204,058 (GRCm39) |
M333T |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,844,177 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,698,870 (GRCm39) |
C70* |
probably null |
Het |
Zfp384 |
T |
C |
6: 125,010,200 (GRCm39) |
|
probably benign |
Het |
Zfp619 |
A |
G |
7: 39,186,730 (GRCm39) |
E920G |
possibly damaging |
Het |
Zhx3 |
G |
A |
2: 160,622,809 (GRCm39) |
P453S |
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 |
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 |
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'- ACTGCAACTTCCTGGTTTGC -3'
(R):5'- GCCTTCCTTCAGGAGCTTTTGG -3'
Sequencing Primer
(F):5'- AACTTCCTGGTTTGCAATCACAAC -3'
(R):5'- CTTGGCAGCGTGGGACAAG -3'
|
Posted On |
2015-04-29 |