Incidental Mutation 'R7801:Ccne2'
| ID |
600518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccne2
|
| Ensembl Gene |
ENSMUSG00000028212 |
| Gene Name |
cyclin E2 |
| Synonyms |
|
| MMRRC Submission |
045856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11191351-11204779 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 11194079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029866]
[ENSMUST00000108324]
[ENSMUST00000170901]
|
| AlphaFold |
Q9Z238 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029866
|
| SMART Domains |
Protein: ENSMUSP00000029866
Gene: ENSMUSG00000028212
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
146 |
231 |
2.16e-24 |
SMART |
|
Cyclin_C
|
240 |
362 |
5.49e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108324
|
| SMART Domains |
Protein: ENSMUSP00000103960
Gene: ENSMUSG00000028212
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
147 |
232 |
2.16e-24 |
SMART |
|
Cyclin_C
|
241 |
363 |
5.49e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170901
|
| SMART Domains |
Protein: ENSMUSP00000130693
Gene: ENSMUSG00000028212
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
147 |
232 |
2.16e-24 |
SMART |
|
Cyclin_C
|
241 |
363 |
5.49e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,558,207 (GRCm39) |
Y165C |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,300 (GRCm39) |
T742S |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,271,578 (GRCm39) |
T651A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,998,835 (GRCm39) |
I381N |
probably damaging |
Het |
| Blzf1 |
A |
G |
1: 164,123,478 (GRCm39) |
V283A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,489,476 (GRCm38) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,022,706 (GRCm39) |
T591S |
probably damaging |
Het |
| Chst9 |
T |
C |
18: 15,585,334 (GRCm39) |
T410A |
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,437,172 (GRCm39) |
D169G |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,495,260 (GRCm39) |
P4116L |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,124,189 (GRCm39) |
A166S |
probably damaging |
Het |
| Gbf1 |
A |
G |
19: 46,261,082 (GRCm39) |
I1216V |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,443 (GRCm39) |
A263T |
probably benign |
Het |
| Hdlbp |
G |
T |
1: 93,358,029 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
A |
T |
12: 113,323,436 (GRCm39) |
L280Q |
|
Het |
| Impa1 |
T |
C |
3: 10,386,727 (GRCm39) |
T171A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,859 (GRCm39) |
Y744N |
possibly damaging |
Het |
| Irgc |
G |
T |
7: 24,131,959 (GRCm39) |
A286D |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,118,190 (GRCm39) |
S2P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,302,064 (GRCm39) |
W813R |
probably damaging |
Het |
| Mapkbp1 |
T |
G |
2: 119,842,554 (GRCm39) |
H157Q |
probably damaging |
Het |
| Mfsd4b2 |
T |
A |
10: 39,799,777 (GRCm39) |
M42L |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,895,091 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,684,240 (GRCm39) |
H161L |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,373 (GRCm39) |
H159R |
probably damaging |
Het |
| Or7g19 |
A |
C |
9: 18,856,555 (GRCm39) |
S204R |
probably damaging |
Het |
| Phlpp2 |
T |
G |
8: 110,652,474 (GRCm39) |
V606G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,968,297 (GRCm39) |
T546A |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,201 (GRCm39) |
V123D |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,037,584 (GRCm39) |
M146V |
possibly damaging |
Het |
| Rptn |
G |
A |
3: 93,305,531 (GRCm39) |
E955K |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,139,770 (GRCm39) |
V301F |
possibly damaging |
Het |
| Sh2b1 |
C |
A |
7: 126,070,464 (GRCm39) |
C380F |
probably benign |
Het |
| Shank1 |
A |
G |
7: 44,001,022 (GRCm39) |
M914V |
unknown |
Het |
| Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,143 (GRCm39) |
F574S |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 119,975,064 (GRCm39) |
E29G |
probably benign |
Het |
| Trpm5 |
A |
C |
7: 142,638,978 (GRCm39) |
D264E |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,251,639 (GRCm39) |
S88G |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,155 (GRCm39) |
F749I |
possibly damaging |
Het |
| Zfp677 |
T |
A |
17: 21,618,277 (GRCm39) |
S445T |
probably damaging |
Het |
| Zfp979 |
A |
C |
4: 147,698,435 (GRCm39) |
N91K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,542,192 (GRCm39) |
V209A |
possibly damaging |
Het |
| Zic4 |
G |
T |
9: 91,266,297 (GRCm39) |
A314S |
probably benign |
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 |
|
|
R7996:Ccne2
|
UTSW |
4 |
11,201,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GCCAAGGTTTCTTAATGCACTAAC -3'
(R):5'- AGTAGTTCAGTTCTGCTATGTCTAG -3'
Sequencing Primer
(F):5'- GCACTAACAAGTTTTTCTCTTTCTG -3'
(R):5'- GGCATTGCTTTAATTCTACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation