Incidental Mutation 'IGL02387:Clk2'
| ID |
291602 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clk2
|
| Ensembl Gene |
ENSMUSG00000068917 |
| Gene Name |
CDC-like kinase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
IGL02387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89072102-89084228 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 89083698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000090927]
[ENSMUST00000098941]
[ENSMUST00000120697]
[ENSMUST00000121212]
[ENSMUST00000121931]
[ENSMUST00000128318]
[ENSMUST00000148265]
|
| AlphaFold |
O35491 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029684
|
| SMART Domains |
Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
coiled coil region
|
89 |
127 |
N/A |
INTRINSIC |
|
Pfam:SCAMP
|
133 |
310 |
1.5e-76 |
PFAM |
|
low complexity region
|
329 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090927
|
| SMART Domains |
Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
137 |
N/A |
INTRINSIC |
|
S_TKc
|
161 |
477 |
1.46e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098941
|
| SMART Domains |
Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
coiled coil region
|
89 |
127 |
N/A |
INTRINSIC |
|
Pfam:SCAMP
|
133 |
229 |
5.5e-46 |
PFAM |
|
Pfam:SCAMP
|
227 |
276 |
2.2e-11 |
PFAM |
|
low complexity region
|
295 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120697
|
| SMART Domains |
Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
70 |
N/A |
INTRINSIC |
|
coiled coil region
|
90 |
128 |
N/A |
INTRINSIC |
|
Pfam:SCAMP
|
135 |
310 |
1.1e-67 |
PFAM |
|
low complexity region
|
330 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121212
|
| SMART Domains |
Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
138 |
N/A |
INTRINSIC |
|
S_TKc
|
162 |
478 |
1.46e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121931
|
| SMART Domains |
Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
142 |
N/A |
INTRINSIC |
|
S_TKc
|
163 |
479 |
1.46e-75 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128318
|
| SMART Domains |
Protein: ENSMUSP00000115761
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148265
|
| SMART Domains |
Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
138 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
162 |
249 |
7.4e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit decreased hepatic fatty acid oxidation and ketogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, other(1) Gene trapped(11) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
T |
G |
4: 155,986,617 (GRCm39) |
L311R |
probably damaging |
Het |
| Actr6 |
T |
A |
10: 89,550,846 (GRCm39) |
N316I |
probably damaging |
Het |
| Adarb2 |
T |
A |
13: 8,619,994 (GRCm39) |
V160E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,391,066 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,659,627 (GRCm39) |
N445S |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,807 (GRCm39) |
D464G |
probably damaging |
Het |
| Cyp4f40 |
A |
C |
17: 32,886,984 (GRCm39) |
T152P |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,952,998 (GRCm39) |
I225F |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,490 (GRCm39) |
Q211R |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,263,902 (GRCm39) |
V87E |
possibly damaging |
Het |
| Gm8165 |
T |
C |
14: 43,913,696 (GRCm39) |
E56G |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,094 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Insrr |
G |
A |
3: 87,720,434 (GRCm39) |
R1024H |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,826,209 (GRCm39) |
W538R |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,378 (GRCm39) |
I232V |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,933,178 (GRCm39) |
N808K |
probably damaging |
Het |
| Or8h10 |
T |
A |
2: 86,808,193 (GRCm39) |
R316* |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,714 (GRCm39) |
S290P |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,387,978 (GRCm39) |
A734V |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,321 (GRCm39) |
N65I |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,738,044 (GRCm39) |
I1275S |
probably damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,468 (GRCm39) |
V201I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,400,929 (GRCm39) |
H987L |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,361 (GRCm39) |
Y2026F |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,572,137 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar8a |
T |
A |
10: 23,953,260 (GRCm39) |
I288N |
possibly damaging |
Het |
| Tpbpb |
T |
G |
13: 61,049,668 (GRCm39) |
*121C |
probably null |
Het |
| Trim29 |
A |
T |
9: 43,236,149 (GRCm39) |
N460I |
probably benign |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,376 (GRCm39) |
I100F |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,274,076 (GRCm39) |
T871A |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,036,803 (GRCm39) |
E363G |
probably damaging |
Het |
| Zfyve19 |
C |
T |
2: 119,046,907 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Clk2
|
APN |
3 |
89,082,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01152:Clk2
|
APN |
3 |
89,083,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02342:Clk2
|
APN |
3 |
89,082,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02553:Clk2
|
APN |
3 |
89,083,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Clk2
|
APN |
3 |
89,080,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Clk2
|
UTSW |
3 |
89,077,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1511:Clk2
|
UTSW |
3 |
89,076,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Clk2
|
UTSW |
3 |
89,082,502 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3796:Clk2
|
UTSW |
3 |
89,082,996 (GRCm39) |
missense |
probably benign |
|
|
R3844:Clk2
|
UTSW |
3 |
89,077,710 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4737:Clk2
|
UTSW |
3 |
89,076,016 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5138:Clk2
|
UTSW |
3 |
89,082,806 (GRCm39) |
unclassified |
probably benign |
|
|
R5413:Clk2
|
UTSW |
3 |
89,080,785 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5447:Clk2
|
UTSW |
3 |
89,074,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5538:Clk2
|
UTSW |
3 |
89,082,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6128:Clk2
|
UTSW |
3 |
89,081,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Clk2
|
UTSW |
3 |
89,080,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7578:Clk2
|
UTSW |
3 |
89,083,807 (GRCm39) |
missense |
probably benign |
|
|
R7762:Clk2
|
UTSW |
3 |
89,074,498 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7894:Clk2
|
UTSW |
3 |
89,076,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8248:Clk2
|
UTSW |
3 |
89,080,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Clk2
|
UTSW |
3 |
89,080,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Clk2
|
UTSW |
3 |
89,082,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Clk2
|
UTSW |
3 |
89,082,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation