Incidental Mutation 'R1023:Cdkl2'
ID |
94615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdkl2
|
Ensembl Gene |
ENSMUSG00000029403 |
Gene Name |
cyclin dependent kinase like 2 |
Synonyms |
KKIAMRE, 5330436L21Rik, Kkm |
MMRRC Submission |
039125-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1023 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92153933-92191742 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92187145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 40
(D40E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069937]
[ENSMUST00000086978]
[ENSMUST00000113140]
[ENSMUST00000113143]
|
AlphaFold |
Q9QUK0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069937
AA Change: D40E
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000063617 Gene: ENSMUSG00000029403 AA Change: D40E
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086978
AA Change: D40E
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000084199 Gene: ENSMUSG00000029403 AA Change: D40E
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113140
AA Change: D40E
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108765 Gene: ENSMUSG00000029403 AA Change: D40E
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113143
AA Change: D40E
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108768 Gene: ENSMUSG00000029403 AA Change: D40E
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201895
|
Meta Mutation Damage Score |
0.0739 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly damaging |
Het |
|
Other mutations in Cdkl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00330:Cdkl2
|
APN |
5 |
92,165,236 (GRCm39) |
splice site |
probably null |
|
IGL02481:Cdkl2
|
APN |
5 |
92,185,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Cdkl2
|
APN |
5 |
92,185,103 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03187:Cdkl2
|
APN |
5 |
92,165,239 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03251:Cdkl2
|
APN |
5 |
92,181,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Cdkl2
|
UTSW |
5 |
92,168,171 (GRCm39) |
missense |
probably benign |
0.02 |
R0616:Cdkl2
|
UTSW |
5 |
92,156,863 (GRCm39) |
missense |
probably benign |
0.12 |
R0764:Cdkl2
|
UTSW |
5 |
92,168,136 (GRCm39) |
missense |
probably benign |
0.00 |
R2338:Cdkl2
|
UTSW |
5 |
92,181,538 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2497:Cdkl2
|
UTSW |
5 |
92,156,857 (GRCm39) |
missense |
probably benign |
0.44 |
R3926:Cdkl2
|
UTSW |
5 |
92,180,998 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4444:Cdkl2
|
UTSW |
5 |
92,168,168 (GRCm39) |
missense |
probably benign |
0.10 |
R4445:Cdkl2
|
UTSW |
5 |
92,168,168 (GRCm39) |
missense |
probably benign |
0.10 |
R4446:Cdkl2
|
UTSW |
5 |
92,168,168 (GRCm39) |
missense |
probably benign |
0.10 |
R4647:Cdkl2
|
UTSW |
5 |
92,165,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R4664:Cdkl2
|
UTSW |
5 |
92,185,124 (GRCm39) |
missense |
probably damaging |
0.99 |
R5478:Cdkl2
|
UTSW |
5 |
92,187,108 (GRCm39) |
nonsense |
probably null |
|
R5636:Cdkl2
|
UTSW |
5 |
92,181,601 (GRCm39) |
missense |
probably benign |
0.01 |
R6446:Cdkl2
|
UTSW |
5 |
92,181,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Cdkl2
|
UTSW |
5 |
92,181,084 (GRCm39) |
missense |
probably damaging |
0.99 |
R7096:Cdkl2
|
UTSW |
5 |
92,181,043 (GRCm39) |
nonsense |
probably null |
|
R7388:Cdkl2
|
UTSW |
5 |
92,167,318 (GRCm39) |
missense |
probably benign |
0.01 |
R8871:Cdkl2
|
UTSW |
5 |
92,164,989 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8993:Cdkl2
|
UTSW |
5 |
92,170,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R9323:Cdkl2
|
UTSW |
5 |
92,168,107 (GRCm39) |
missense |
probably benign |
0.23 |
R9768:Cdkl2
|
UTSW |
5 |
92,165,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- catctctccagccccTGGATTTTC -3'
(R):5'- CCATGCTTTGGTTTCCACAGCAAG -3'
Sequencing Primer
(F):5'- acacatatactacacacattcacac -3'
(R):5'- TGGTTTCCACAGCAAGAAAAATTCC -3'
|
Posted On |
2014-01-05 |