Incidental Mutation 'IGL01289:Ccng2'
ID |
72864 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccng2
|
Ensembl Gene |
ENSMUSG00000029385 |
Gene Name |
cyclin G2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01289
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
93415432-93424090 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93421276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 262
(K262R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031331]
[ENSMUST00000121127]
|
AlphaFold |
O08918 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031331
AA Change: K262R
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031331 Gene: ENSMUSG00000029385 AA Change: K262R
Domain | Start | End | E-Value | Type |
CYCLIN
|
61 |
147 |
3.06e-15 |
SMART |
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
low complexity region
|
295 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121127
AA Change: K262R
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113278 Gene: ENSMUSG00000029385 AA Change: K262R
Domain | Start | End | E-Value | Type |
CYCLIN
|
61 |
147 |
3.06e-15 |
SMART |
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
low complexity region
|
295 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130183
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152097
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153260
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
Other mutations in Ccng2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01148:Ccng2
|
APN |
5 |
93,418,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R0133:Ccng2
|
UTSW |
5 |
93,421,240 (GRCm39) |
missense |
probably benign |
0.15 |
R0266:Ccng2
|
UTSW |
5 |
93,419,148 (GRCm39) |
splice site |
probably benign |
|
R0346:Ccng2
|
UTSW |
5 |
93,418,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:Ccng2
|
UTSW |
5 |
93,421,272 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1087:Ccng2
|
UTSW |
5 |
93,421,303 (GRCm39) |
missense |
probably benign |
0.17 |
R1373:Ccng2
|
UTSW |
5 |
93,418,914 (GRCm39) |
splice site |
probably benign |
|
R1696:Ccng2
|
UTSW |
5 |
93,421,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3727:Ccng2
|
UTSW |
5 |
93,422,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Ccng2
|
UTSW |
5 |
93,417,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6337:Ccng2
|
UTSW |
5 |
93,418,780 (GRCm39) |
missense |
probably benign |
|
R6611:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7077:Ccng2
|
UTSW |
5 |
93,417,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7140:Ccng2
|
UTSW |
5 |
93,416,614 (GRCm39) |
missense |
probably benign |
0.00 |
R7161:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7193:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7233:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7235:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7269:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7270:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7271:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7449:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7451:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7567:Ccng2
|
UTSW |
5 |
93,418,731 (GRCm39) |
missense |
probably benign |
0.01 |
R7614:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7657:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7658:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7743:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7744:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7745:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7874:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7875:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7876:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7877:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R7884:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8053:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8279:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8282:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8492:Ccng2
|
UTSW |
5 |
93,419,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R8503:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8504:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8528:Ccng2
|
UTSW |
5 |
93,417,164 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9010:Ccng2
|
UTSW |
5 |
93,416,616 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-10-07 |