Incidental Mutation 'IGL02553:Clk2'
| ID |
298560 |
| 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: 0.269)
|
| Stock # |
IGL02553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89072102-89084228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89083020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 432
(R432H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113861
(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 damaging
Transcript: ENSMUST00000090927
AA Change: R430H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: R430H
| 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: R431H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: R431H
| 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: R432H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: R432H
| 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: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| 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 |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,242,750 (GRCm39) |
S1326P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,466,970 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Arhgap11a |
A |
C |
2: 113,667,906 (GRCm39) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,226 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Arpin |
G |
T |
7: 79,577,395 (GRCm39) |
D217E |
possibly damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,241,521 (GRCm39) |
V735I |
probably benign |
Het |
| Ccdc146 |
A |
T |
5: 21,502,631 (GRCm39) |
F753L |
probably benign |
Het |
| Cdh3 |
T |
A |
8: 107,270,880 (GRCm39) |
L511* |
probably null |
Het |
| Chrna1 |
A |
T |
2: 73,397,206 (GRCm39) |
I361N |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,261,018 (GRCm39) |
|
probably benign |
Het |
| Cstf1 |
G |
T |
2: 172,219,774 (GRCm39) |
R295L |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,725,467 (GRCm39) |
D526G |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,577 (GRCm39) |
H593Q |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,107,109 (GRCm39) |
Y1171H |
possibly damaging |
Het |
| Erbb4 |
A |
G |
1: 68,345,023 (GRCm39) |
L566P |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,660,829 (GRCm39) |
D281E |
probably damaging |
Het |
| Fam185a |
T |
A |
5: 21,634,839 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,304,831 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,109 (GRCm39) |
W322R |
probably damaging |
Het |
| Fbxw8 |
T |
A |
5: 118,204,125 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,288,615 (GRCm39) |
T874A |
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,048 (GRCm39) |
I145M |
probably benign |
Het |
| Gtf2i |
G |
A |
5: 134,274,015 (GRCm39) |
T712I |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,131,552 (GRCm39) |
S268P |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Hsd17b4 |
C |
T |
18: 50,295,164 (GRCm39) |
|
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,725 (GRCm39) |
W66R |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,859 (GRCm39) |
D636Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,220,914 (GRCm39) |
I398N |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,701,311 (GRCm39) |
M165V |
probably damaging |
Het |
| Mterf2 |
A |
C |
10: 84,956,331 (GRCm39) |
L98V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,409,849 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 69,925,568 (GRCm39) |
M12V |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,583,013 (GRCm39) |
R136I |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,003,542 (GRCm39) |
S231A |
probably damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,275 (GRCm39) |
T160A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,333 (GRCm39) |
M190L |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,581,071 (GRCm39) |
L59* |
probably null |
Het |
| Pias4 |
A |
G |
10: 80,999,621 (GRCm39) |
L144P |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,746 (GRCm39) |
N598K |
probably benign |
Het |
| Polq |
A |
G |
16: 36,862,130 (GRCm39) |
Y550C |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,002,024 (GRCm39) |
|
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,260 (GRCm39) |
V92A |
probably benign |
Het |
| Rab4a |
T |
C |
8: 124,550,561 (GRCm39) |
F14L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,276,073 (GRCm39) |
C256* |
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,279,451 (GRCm39) |
|
probably benign |
Het |
| Socs5 |
C |
T |
17: 87,442,419 (GRCm39) |
T453M |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,952,211 (GRCm39) |
L135P |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,534 (GRCm39) |
K178E |
probably damaging |
Het |
| Spr |
T |
C |
6: 85,114,430 (GRCm39) |
N100D |
probably damaging |
Het |
| Srrm4 |
C |
T |
5: 116,582,624 (GRCm39) |
|
probably benign |
Het |
| Stard3 |
T |
C |
11: 98,267,389 (GRCm39) |
F169S |
possibly damaging |
Het |
| Tbx1 |
T |
A |
16: 18,402,847 (GRCm39) |
D222V |
probably damaging |
Het |
| Trbv23 |
C |
T |
6: 41,193,279 (GRCm39) |
Q56* |
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,654,838 (GRCm39) |
N357S |
possibly damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,811 (GRCm39) |
P206S |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,600,657 (GRCm39) |
V19A |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,447 (GRCm39) |
N1517S |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,218,571 (GRCm39) |
I672T |
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 |
|
|
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