Incidental Mutation 'R3926:Cdkl2'
| ID |
308276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkl2
|
| Ensembl Gene |
ENSMUSG00000029403 |
| Gene Name |
cyclin dependent kinase like 2 |
| Synonyms |
KKIAMRE, 5330436L21Rik, Kkm |
| MMRRC Submission |
040821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92153933-92191742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92180998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 214
(I214V)
|
| 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: I214V
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: I214V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086978
AA Change: I214V
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: I214V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113140
AA Change: I214V
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: I214V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113143
AA Change: I214V
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: I214V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
289 |
2.79e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201357
|
| Meta Mutation Damage Score |
0.1371 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Asb14 |
T |
C |
14: 26,619,695 (GRCm39) |
I48T |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,407,227 (GRCm39) |
I559F |
possibly damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| Bco1 |
T |
C |
8: 117,854,211 (GRCm39) |
S379P |
probably benign |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Bst1 |
T |
C |
5: 43,997,796 (GRCm39) |
V265A |
possibly damaging |
Het |
| Car11 |
T |
C |
7: 45,349,915 (GRCm39) |
F45L |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,729,398 (GRCm39) |
S141T |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,883,773 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
G |
5: 72,529,473 (GRCm39) |
D294A |
probably damaging |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,083 (GRCm39) |
L559P |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,697 (GRCm39) |
N397D |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,540,574 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,214,790 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,522 (GRCm39) |
Y850C |
unknown |
Het |
| Gal3st2b |
G |
T |
1: 93,868,512 (GRCm39) |
V246L |
probably benign |
Het |
| Jam3 |
A |
T |
9: 27,017,701 (GRCm39) |
I29K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,996 (GRCm39) |
S327G |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,205 (GRCm39) |
Y76H |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,441,936 (GRCm39) |
P1943L |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,455,053 (GRCm39) |
D86G |
probably damaging |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,223 (GRCm39) |
Q255L |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,531 (GRCm39) |
R641H |
possibly damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
| Ogfod3 |
T |
C |
11: 121,074,255 (GRCm39) |
T265A |
probably damaging |
Het |
| Pcdh9 |
G |
T |
14: 94,124,246 (GRCm39) |
Y641* |
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,465 (GRCm39) |
D511E |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,443 (GRCm39) |
Y171C |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,005,505 (GRCm39) |
C1075R |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,444,382 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,621,097 (GRCm39) |
T854A |
probably benign |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,242,593 (GRCm39) |
|
probably null |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Serpina3f |
T |
C |
12: 104,185,740 (GRCm39) |
I315T |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,648,715 (GRCm39) |
S479T |
possibly damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,019,874 (GRCm39) |
D166G |
probably damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,954,438 (GRCm39) |
D1038G |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,644,397 (GRCm39) |
R609G |
probably damaging |
Het |
| Zfp729a |
T |
A |
13: 67,768,310 (GRCm39) |
K640* |
probably null |
Het |
| Zfp986 |
A |
T |
4: 145,619,090 (GRCm39) |
|
probably benign |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
probably benign |
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 |
|
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 |
|
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'- ATCAGCCTTGCTAGAGGGTC -3'
(R):5'- GTGACAAGACTTAACTACCATGCC -3'
Sequencing Primer
(F):5'- ACATGCATGTGTATATGTGTAGTG -3'
(R):5'- GACTTAACTACCATGCCTCTCAAAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation