Incidental Mutation 'R3844:Clk2'
| ID |
277268 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3844 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89072102-89084228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89077710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 222
(N222S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090927]
[ENSMUST00000121212]
[ENSMUST00000121931]
[ENSMUST00000128318]
[ENSMUST00000148265]
[ENSMUST00000152205]
|
| AlphaFold |
O35491 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090927
AA Change: N220S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: N220S
| 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: ENSMUST00000121212
AA Change: N221S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: N221S
| 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
AA Change: N222S
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: N222S
| 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 |
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: ENSMUST00000132830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148265
AA Change: N221S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917
AA Change: N221S
| 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: ENSMUST00000153255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152205
|
| SMART Domains |
Protein: ENSMUSP00000122202
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,032 (GRCm39) |
R2* |
probably null |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam5 |
T |
A |
8: 25,303,426 (GRCm39) |
D167V |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,387,046 (GRCm39) |
E50V |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,361,645 (GRCm39) |
S703L |
probably damaging |
Het |
| Ccl25 |
T |
G |
8: 4,404,183 (GRCm39) |
V179G |
possibly damaging |
Het |
| Col13a1 |
C |
T |
10: 61,685,988 (GRCm39) |
G668D |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,634,242 (GRCm39) |
E69G |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,959,257 (GRCm39) |
H172Y |
probably benign |
Het |
| Dock8 |
T |
G |
19: 25,042,794 (GRCm39) |
Y125* |
probably null |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,389,084 (GRCm39) |
F191S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,790 (GRCm39) |
V888A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,648,733 (GRCm39) |
H1392L |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,819,950 (GRCm39) |
H5228Y |
possibly damaging |
Het |
| Galnt14 |
A |
G |
17: 74,016,924 (GRCm39) |
|
probably null |
Het |
| Grm8 |
A |
T |
6: 27,429,507 (GRCm39) |
N462K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,789 (GRCm39) |
E410G |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,158,513 (GRCm39) |
I77F |
probably damaging |
Het |
| Klhl11 |
A |
T |
11: 100,363,133 (GRCm39) |
M141K |
possibly damaging |
Het |
| Lactbl1 |
A |
G |
4: 136,365,271 (GRCm39) |
H541R |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,247 (GRCm39) |
M920V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,233 (GRCm39) |
T124A |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,641,256 (GRCm39) |
T179S |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,717 (GRCm39) |
L1479P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,916 (GRCm39) |
H292R |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,171 (GRCm39) |
E202* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,867,107 (GRCm39) |
D13G |
possibly damaging |
Het |
| Sri |
A |
G |
5: 8,114,576 (GRCm39) |
D177G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,938,365 (GRCm39) |
V1437A |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,471,926 (GRCm39) |
R523G |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,205,555 (GRCm39) |
L561M |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,646,309 (GRCm39) |
D1417Y |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,186,437 (GRCm39) |
S648L |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,863,248 (GRCm39) |
L69Q |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGATCCATTAATCACTCACTG -3'
(R):5'- GCACAGGATCAAGTTTAATGGG -3'
Sequencing Primer
(F):5'- CACTCACTGATCATTCAATCTGAG -3'
(R):5'- TATACTCTCAGCTCTCAGGAGGCAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation