Incidental Mutation 'IGL03298:Ccnb2'
ID |
416142 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccnb2
|
Ensembl Gene |
ENSMUSG00000032218 |
Gene Name |
cyclin B2 |
Synonyms |
CycB2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
IGL03298
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
70314974-70328829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70326156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 63
(T63A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034742]
|
AlphaFold |
P30276 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034742
AA Change: T63A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034742 Gene: ENSMUSG00000032218 AA Change: T63A
Domain | Start | End | E-Value | Type |
CYCLIN
|
171 |
255 |
8.58e-28 |
SMART |
Cyclin_C
|
264 |
382 |
9.83e-34 |
SMART |
CYCLIN
|
268 |
349 |
2.73e-21 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in reduced body weight and reduced litter size. Homozygous pups are underrepresented in litters from a heterozygous intercross. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
Abcc4 |
C |
A |
14: 118,848,880 (GRCm39) |
D491Y |
probably damaging |
Het |
Casp2 |
C |
T |
6: 42,245,924 (GRCm39) |
|
probably benign |
Het |
Cgrrf1 |
A |
G |
14: 47,083,778 (GRCm39) |
I187V |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,338,625 (GRCm39) |
V845M |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 49,997,885 (GRCm39) |
M691T |
probably benign |
Het |
Dnhd1 |
T |
G |
7: 105,363,682 (GRCm39) |
I4081M |
probably damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,993,903 (GRCm39) |
D349V |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,158,696 (GRCm39) |
T651A |
unknown |
Het |
Megf10 |
C |
T |
18: 57,416,910 (GRCm39) |
Q760* |
probably null |
Het |
Mroh7 |
T |
A |
4: 106,571,288 (GRCm39) |
K22* |
probably null |
Het |
Or4f53 |
A |
T |
2: 111,087,879 (GRCm39) |
M140L |
probably benign |
Het |
Or7g29 |
A |
T |
9: 19,286,358 (GRCm39) |
V273E |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,571,829 (GRCm39) |
Y107N |
probably damaging |
Het |
Reln |
T |
A |
5: 22,115,834 (GRCm39) |
Q3058L |
probably damaging |
Het |
Ss18 |
T |
C |
18: 14,812,484 (GRCm39) |
M36V |
possibly damaging |
Het |
Tlr7 |
C |
A |
X: 166,089,703 (GRCm39) |
K594N |
probably benign |
Het |
Trim10 |
A |
G |
17: 37,187,917 (GRCm39) |
S378G |
possibly damaging |
Het |
Zfp644 |
A |
G |
5: 106,782,967 (GRCm39) |
S1105P |
possibly damaging |
Het |
|
Other mutations in Ccnb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00481:Ccnb2
|
APN |
9 |
70,326,189 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01474:Ccnb2
|
APN |
9 |
70,326,305 (GRCm39) |
missense |
probably benign |
|
IGL03097:Ccnb2
|
APN |
9 |
70,316,678 (GRCm39) |
splice site |
probably benign |
|
R0042:Ccnb2
|
UTSW |
9 |
70,326,335 (GRCm39) |
missense |
probably benign |
|
R0042:Ccnb2
|
UTSW |
9 |
70,326,335 (GRCm39) |
missense |
probably benign |
|
R1585:Ccnb2
|
UTSW |
9 |
70,317,559 (GRCm39) |
splice site |
probably null |
|
R1756:Ccnb2
|
UTSW |
9 |
70,318,070 (GRCm39) |
missense |
probably benign |
0.41 |
R2046:Ccnb2
|
UTSW |
9 |
70,316,629 (GRCm39) |
missense |
probably benign |
0.11 |
R6045:Ccnb2
|
UTSW |
9 |
70,326,375 (GRCm39) |
missense |
probably benign |
|
R7202:Ccnb2
|
UTSW |
9 |
70,318,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7623:Ccnb2
|
UTSW |
9 |
70,326,170 (GRCm39) |
missense |
probably benign |
|
R8515:Ccnb2
|
UTSW |
9 |
70,320,382 (GRCm39) |
critical splice donor site |
probably null |
|
R9072:Ccnb2
|
UTSW |
9 |
70,318,095 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9073:Ccnb2
|
UTSW |
9 |
70,318,095 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9235:Ccnb2
|
UTSW |
9 |
70,318,163 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |