Incidental Mutation 'IGL02861:Clk2'
| ID |
362159 |
| 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 # |
IGL02861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89072102-89084228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89080706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 231
(W231R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000090927]
[ENSMUST00000098941]
[ENSMUST00000120697]
[ENSMUST00000121212]
[ENSMUST00000121931]
[ENSMUST00000148265]
[ENSMUST00000128318]
|
| 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 damaging
Transcript: ENSMUST00000090927
AA Change: W230R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: W230R
| 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 damaging
Transcript: ENSMUST00000121212
AA Change: W231R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: W231R
| 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 damaging
Transcript: ENSMUST00000121931
AA Change: W232R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: W232R
| 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 |
probably damaging
Transcript: ENSMUST00000148265
AA Change: W231R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917
AA Change: W231R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153255
|
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,001,146 (GRCm39) |
|
probably benign |
Het |
| 6430548M08Rik |
G |
A |
8: 120,876,863 (GRCm39) |
R157H |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,627,206 (GRCm39) |
K482E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,622,566 (GRCm39) |
S429T |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,569,157 (GRCm39) |
N125I |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,746 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
T |
C |
X: 158,338,524 (GRCm39) |
I457T |
possibly damaging |
Het |
| Cbr3 |
T |
G |
16: 93,482,007 (GRCm39) |
V121G |
probably damaging |
Het |
| Cd44 |
A |
G |
2: 102,662,826 (GRCm39) |
|
probably null |
Het |
| Cd72 |
G |
A |
4: 43,448,332 (GRCm39) |
A316V |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,413,657 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
T |
9: 35,398,253 (GRCm39) |
Q990L |
probably damaging |
Het |
| Cpsf2 |
G |
A |
12: 101,965,825 (GRCm39) |
V597I |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,042,918 (GRCm39) |
V874A |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,776,455 (GRCm39) |
F811L |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,756,195 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 84,016,519 (GRCm39) |
L59Q |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,476,597 (GRCm39) |
Y601H |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,796,235 (GRCm39) |
Y131H |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,445,067 (GRCm39) |
D101E |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,737,139 (GRCm39) |
T30A |
possibly damaging |
Het |
| Il27 |
A |
T |
7: 126,191,821 (GRCm39) |
L77Q |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,298,225 (GRCm39) |
V83D |
possibly damaging |
Het |
| Manba |
T |
G |
3: 135,276,024 (GRCm39) |
S822A |
probably benign |
Het |
| Mterf2 |
A |
C |
10: 84,956,195 (GRCm39) |
V143G |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,981,195 (GRCm39) |
D895G |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,927,801 (GRCm39) |
I157L |
probably benign |
Het |
| Or6n1 |
T |
A |
1: 173,916,602 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
T |
C |
9: 14,919,101 (GRCm39) |
K253E |
probably benign |
Het |
| Phc1 |
T |
A |
6: 122,300,748 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,208 (GRCm39) |
E250G |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,375 (GRCm39) |
S1579* |
probably null |
Het |
| Rrp1 |
A |
G |
10: 78,245,056 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,186 (GRCm39) |
L4187P |
possibly damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,827,561 (GRCm39) |
I387F |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,252,836 (GRCm39) |
C492Y |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,274,478 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,039,164 (GRCm39) |
L1169Q |
probably damaging |
Het |
| Stap1 |
T |
A |
5: 86,219,824 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,182,147 (GRCm39) |
L66P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,632,841 (GRCm39) |
E14071G |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,947,125 (GRCm39) |
H586R |
possibly damaging |
Het |
| Zfpm2 |
A |
C |
15: 40,966,662 (GRCm39) |
K917T |
probably damaging |
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 |
|
IGL02387:Clk2
|
APN |
3 |
89,083,698 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02553:Clk2
|
APN |
3 |
89,083,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation