Incidental Mutation 'R2338:Cdkl2'
| ID |
246619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkl2
|
| Ensembl Gene |
ENSMUSG00000029403 |
| Gene Name |
cyclin dependent kinase like 2 |
| Synonyms |
KKIAMRE, 5330436L21Rik, Kkm |
| MMRRC Submission |
040324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2338 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92153933-92191742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92181538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 148
(A148T)
|
| 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: A148T
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: A148T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086978
AA Change: A148T
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: A148T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113140
AA Change: A148T
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: A148T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113143
AA Change: A148T
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: A148T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201357
|
| Meta Mutation Damage Score |
0.6054 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
| A1cf |
C |
T |
19: 31,909,945 (GRCm39) |
P330S |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,658,440 (GRCm39) |
L1158S |
probably damaging |
Het |
| Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
| Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
| Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,895,605 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
| Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
| Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
| Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,943,581 (GRCm39) |
M949V |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
| Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
| Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
| Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
| Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
| Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
| Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
| Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
| Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
| Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
G |
6: 123,681,384 (GRCm39) |
I97M |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
| Zfyve9 |
A |
C |
4: 108,517,811 (GRCm39) |
D461E |
probably 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 |
|
R1023:Cdkl2
|
UTSW |
5 |
92,187,145 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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'- ACGACTCATTTAGTAACACTGAGCC -3'
(R):5'- TGAGCCTGGAACAACTTTCTG -3'
Sequencing Primer
(F):5'- ATTTAGTAACACTGAGCCCTGGC -3'
(R):5'- CCTGGAACAACTTTCTGTGTGTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation