Incidental Mutation 'R7996:Ccne2'
| ID |
616075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccne2
|
| Ensembl Gene |
ENSMUSG00000028212 |
| Gene Name |
cyclin E2 |
| Synonyms |
|
| MMRRC Submission |
046036-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
11191351-11204779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 11201347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 292
(Q292K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029866]
[ENSMUST00000044616]
[ENSMUST00000108318]
[ENSMUST00000108319]
[ENSMUST00000108324]
[ENSMUST00000170901]
|
| AlphaFold |
Q9Z238 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029866
AA Change: Q291K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
AA Change: Q291K
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
146 |
231 |
2.16e-24 |
SMART |
|
Cyclin_C
|
240 |
362 |
5.49e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044616
|
| SMART Domains |
Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108318
|
| SMART Domains |
Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
SCOP:d1a17__
|
826 |
961 |
9e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108319
|
| SMART Domains |
Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108324
AA Change: Q292K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
AA Change: Q292K
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
147 |
232 |
2.16e-24 |
SMART |
|
Cyclin_C
|
241 |
363 |
5.49e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170901
AA Change: Q292K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
AA Change: Q292K
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
147 |
232 |
2.16e-24 |
SMART |
|
Cyclin_C
|
241 |
363 |
5.49e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for disruptions in this gene are phenotypically normal. Male mice show reduced fertility but are otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,977,490 (GRCm39) |
N394K |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,505,001 (GRCm39) |
D69G |
possibly damaging |
Het |
| Arid5a |
G |
T |
1: 36,356,526 (GRCm39) |
C121F |
unknown |
Het |
| Cfap70 |
A |
G |
14: 20,459,194 (GRCm39) |
I723T |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,118,828 (GRCm39) |
T62A |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,981,329 (GRCm39) |
H87L |
possibly damaging |
Het |
| Derl1 |
T |
G |
15: 57,741,970 (GRCm39) |
M122L |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,378 (GRCm39) |
Q215R |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,831,694 (GRCm39) |
N289D |
probably benign |
Het |
| Elapor2 |
A |
C |
5: 9,512,881 (GRCm39) |
K958N |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,242,888 (GRCm39) |
I1084L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,889 (GRCm39) |
V87A |
|
Het |
| Garre1 |
G |
T |
7: 33,963,024 (GRCm39) |
T216K |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,146 (GRCm39) |
T53S |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Katnb1 |
A |
T |
8: 95,824,643 (GRCm39) |
I546F |
possibly damaging |
Het |
| Memo1 |
A |
T |
17: 74,565,491 (GRCm39) |
L24Q |
probably damaging |
Het |
| Mmel1 |
C |
G |
4: 154,976,912 (GRCm39) |
Q529E |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,164 (GRCm39) |
F1024S |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,759 (GRCm39) |
D186G |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,155 (GRCm39) |
V198E |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,107,276 (GRCm39) |
K110R |
probably benign |
Het |
| Pate13 |
G |
A |
9: 35,820,650 (GRCm39) |
R34H |
probably damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,459 (GRCm39) |
S625F |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,329,766 (GRCm39) |
L106* |
probably null |
Het |
| Rabggtb |
T |
C |
3: 153,617,605 (GRCm39) |
H31R |
probably damaging |
Het |
| Rhot1 |
G |
A |
11: 80,148,363 (GRCm39) |
C601Y |
probably damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,309 (GRCm39) |
V53A |
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,344 (GRCm39) |
G200* |
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,770,929 (GRCm39) |
Y153* |
probably null |
Het |
| Slc25a40 |
A |
G |
5: 8,493,653 (GRCm39) |
T168A |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,595,730 (GRCm39) |
R286* |
probably null |
Het |
| Smtnl2 |
T |
A |
11: 72,291,200 (GRCm39) |
K349N |
probably damaging |
Het |
| Snx16 |
G |
T |
3: 10,500,509 (GRCm39) |
D153E |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,487 (GRCm39) |
E182K |
probably damaging |
Het |
| Ssu72 |
A |
C |
4: 155,816,450 (GRCm39) |
N144T |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,030,667 (GRCm39) |
L296I |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,644,254 (GRCm39) |
M225V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,051,441 (GRCm39) |
L4057P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,616 (GRCm39) |
H189R |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,441,311 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
T |
C |
4: 3,605,842 (GRCm39) |
S786P |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Trim14 |
A |
T |
4: 46,533,086 (GRCm39) |
C76S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,993,231 (GRCm39) |
Q506L |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,795 (GRCm39) |
F317I |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,639,124 (GRCm39) |
Y335* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,389,573 (GRCm39) |
T1257I |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,863 (GRCm39) |
N87D |
possibly damaging |
Het |
|
| Other mutations in Ccne2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Ccne2
|
APN |
4 |
11,199,322 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02207:Ccne2
|
APN |
4 |
11,202,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02885:Ccne2
|
APN |
4 |
11,198,723 (GRCm39) |
splice site |
probably benign |
|
|
R0367:Ccne2
|
UTSW |
4 |
11,201,426 (GRCm39) |
splice site |
probably benign |
|
|
R0686:Ccne2
|
UTSW |
4 |
11,197,220 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1056:Ccne2
|
UTSW |
4 |
11,192,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1068:Ccne2
|
UTSW |
4 |
11,192,850 (GRCm39) |
missense |
probably benign |
|
|
R2076:Ccne2
|
UTSW |
4 |
11,197,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Ccne2
|
UTSW |
4 |
11,197,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2190:Ccne2
|
UTSW |
4 |
11,197,241 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3724:Ccne2
|
UTSW |
4 |
11,203,039 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3766:Ccne2
|
UTSW |
4 |
11,199,293 (GRCm39) |
splice site |
probably benign |
|
|
R4595:Ccne2
|
UTSW |
4 |
11,202,986 (GRCm39) |
missense |
probably benign |
|
|
R5469:Ccne2
|
UTSW |
4 |
11,201,353 (GRCm39) |
nonsense |
probably null |
|
|
R5543:Ccne2
|
UTSW |
4 |
11,194,026 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5884:Ccne2
|
UTSW |
4 |
11,199,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6298:Ccne2
|
UTSW |
4 |
11,199,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Ccne2
|
UTSW |
4 |
11,198,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Ccne2
|
UTSW |
4 |
11,201,348 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7591:Ccne2
|
UTSW |
4 |
11,201,393 (GRCm39) |
missense |
probably benign |
|
|
R7801:Ccne2
|
UTSW |
4 |
11,194,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8799:Ccne2
|
UTSW |
4 |
11,201,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8812:Ccne2
|
UTSW |
4 |
11,202,279 (GRCm39) |
missense |
probably benign |
|
|
R9301:Ccne2
|
UTSW |
4 |
11,192,881 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9345:Ccne2
|
UTSW |
4 |
11,199,420 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9566:Ccne2
|
UTSW |
4 |
11,193,026 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGTGCTCCTAGAACTTAC -3'
(R):5'- CCACTTGGCTGGGAATTTATTTTC -3'
Sequencing Primer
(F):5'- AGAACTTACTCCCTTTCCTGCAATTC -3'
(R):5'- CCTGAAGCTTTCTTAACCA -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation