Incidental Mutation 'R8248:Clk2'
| ID |
640363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clk2
|
| Ensembl Gene |
ENSMUSG00000068917 |
| Gene Name |
CDC-like kinase 2 |
| Synonyms |
|
| MMRRC Submission |
067675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R8248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89072102-89084228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89080811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 266
(V266M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113390
(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: V265M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: V265M
| 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: V266M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: V266M
| 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: V267M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: V267M
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,556 (GRCm39) |
D24G |
noncoding transcript |
Het |
| Adam32 |
A |
G |
8: 25,391,486 (GRCm39) |
S343P |
possibly damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,847,991 (GRCm39) |
D466E |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,310 (GRCm39) |
V198E |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,731,434 (GRCm39) |
H658L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,366,072 (GRCm39) |
I781N |
probably damaging |
Het |
| Bloc1s6 |
A |
T |
2: 122,584,565 (GRCm39) |
R47* |
probably null |
Het |
| Cul9 |
A |
C |
17: 46,840,940 (GRCm39) |
Y777D |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dcp1a |
C |
T |
14: 30,201,555 (GRCm39) |
|
probably benign |
Het |
| Dnajb2 |
T |
G |
1: 75,220,226 (GRCm39) |
D248E |
|
Het |
| Dpy19l1 |
T |
C |
9: 24,414,191 (GRCm39) |
H79R |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,371 (GRCm39) |
S643P |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,966,753 (GRCm39) |
|
probably null |
Het |
| Fam76b |
T |
C |
9: 13,742,398 (GRCm39) |
C110R |
probably damaging |
Het |
| Galnt7 |
T |
A |
8: 57,991,222 (GRCm39) |
K429N |
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,950 (GRCm39) |
C104S |
probably damaging |
Het |
| Gm7298 |
A |
C |
6: 121,764,402 (GRCm39) |
H1427P |
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,255,310 (GRCm39) |
I87F |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gpr25 |
C |
A |
1: 136,188,415 (GRCm39) |
R66L |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,563,841 (GRCm39) |
N241D |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,144,881 (GRCm39) |
D179G |
probably benign |
Het |
| Itch |
T |
C |
2: 155,048,303 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,712,052 (GRCm39) |
V913A |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,225,354 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,937,375 (GRCm39) |
I655T |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,581,667 (GRCm39) |
S817R |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,755,733 (GRCm39) |
M503L |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,875,229 (GRCm39) |
T1380A |
probably damaging |
Het |
| Mfap1a |
G |
T |
2: 121,336,976 (GRCm39) |
T16K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,960,586 (GRCm39) |
T773I |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nudt7 |
A |
G |
8: 114,878,737 (GRCm39) |
Y255C |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,406,942 (GRCm39) |
I2393R |
probably damaging |
Het |
| Pmm1 |
A |
C |
15: 81,844,932 (GRCm39) |
L24R |
possibly damaging |
Het |
| Pram1 |
T |
C |
17: 33,860,138 (GRCm39) |
V235A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,877 (GRCm39) |
T599A |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,214,166 (GRCm39) |
K812E |
unknown |
Het |
| Qars1 |
G |
A |
9: 108,386,651 (GRCm39) |
A155T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,184,478 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,906,045 (GRCm39) |
R165W |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,206,987 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,768,546 (GRCm39) |
W2808R |
probably damaging |
Het |
| Sh3gl1 |
A |
G |
17: 56,326,038 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,347,563 (GRCm39) |
M279K |
probably benign |
Het |
| Snx11 |
A |
G |
11: 96,660,759 (GRCm39) |
S184P |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,640,722 (GRCm39) |
C692R |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,700,104 (GRCm39) |
N982S |
probably damaging |
Het |
| Stac |
T |
A |
9: 111,422,813 (GRCm39) |
D270V |
probably benign |
Het |
| Syn3 |
T |
A |
10: 85,970,885 (GRCm39) |
I246F |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,719,663 (GRCm39) |
V980A |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,419,001 (GRCm39) |
A47E |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,936 (GRCm39) |
N192S |
probably benign |
Het |
| Zmym4 |
C |
A |
4: 126,799,162 (GRCm39) |
V725L |
possibly 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 |
|
|
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 |
|
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'- CCATACAGACTTTCATTTTGGTGGG -3'
(R):5'- CAGTCAAGGTGGTAAGTCGG -3'
Sequencing Primer
(F):5'- GGTGCTGGGTTTTGGGAACTTATTAG -3'
(R):5'- GAGGAGGAGCTGCCATGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation