Incidental Mutation 'R7745:Ccng2'
ID |
596784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccng2
|
Ensembl Gene |
ENSMUSG00000029385 |
Gene Name |
cyclin G2 |
Synonyms |
|
MMRRC Submission |
045801-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7745 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
93415432-93424090 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 93421202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 237
(S237R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031331]
[ENSMUST00000121127]
|
AlphaFold |
O08918 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031331
AA Change: S237R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031331 Gene: ENSMUSG00000029385 AA Change: S237R
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 benign
Transcript: ENSMUST00000121127
AA Change: S237R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000113278 Gene: ENSMUSG00000029385 AA Change: S237R
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
96% (55/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
C |
3: 59,945,893 (GRCm39) |
S188R |
probably damaging |
Het |
Aars1 |
T |
A |
8: 111,768,289 (GRCm39) |
I220N |
probably damaging |
Het |
Abca15 |
A |
G |
7: 119,931,440 (GRCm39) |
N16S |
probably damaging |
Het |
Adck1 |
A |
T |
12: 88,423,570 (GRCm39) |
M358L |
probably benign |
Het |
Adck5 |
A |
T |
15: 76,478,748 (GRCm39) |
Q345L |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,542,094 (GRCm39) |
F876S |
probably damaging |
Het |
Aebp2 |
T |
A |
6: 140,569,584 (GRCm39) |
L55Q |
unknown |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,215,676 (GRCm39) |
V1036A |
possibly damaging |
Het |
Aox4 |
A |
G |
1: 58,279,866 (GRCm39) |
D494G |
probably benign |
Het |
Cacna1a |
C |
A |
8: 85,286,023 (GRCm39) |
H889Q |
probably benign |
Het |
Cacna1c |
T |
C |
6: 119,029,587 (GRCm39) |
D151G |
|
Het |
Car8 |
A |
G |
4: 8,237,939 (GRCm39) |
V92A |
possibly damaging |
Het |
Ccdc8 |
G |
T |
7: 16,729,614 (GRCm39) |
A368S |
unknown |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,370,013 (GRCm39) |
I877V |
probably benign |
Het |
Copa |
A |
T |
1: 171,939,509 (GRCm39) |
D582V |
probably damaging |
Het |
Cpne2 |
T |
G |
8: 95,295,312 (GRCm39) |
S466A |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,816,156 (GRCm39) |
K1311R |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 15,982,461 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
T |
11: 69,342,144 (GRCm39) |
C2947* |
probably null |
Het |
Exoc1 |
A |
T |
5: 76,709,359 (GRCm39) |
K656* |
probably null |
Het |
Exoc8 |
T |
C |
8: 125,622,558 (GRCm39) |
N603S |
probably benign |
Het |
Fam171a1 |
T |
A |
2: 3,226,483 (GRCm39) |
C539S |
possibly damaging |
Het |
Fastkd5 |
A |
T |
2: 130,456,988 (GRCm39) |
I534K |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,145,115 (GRCm39) |
D2708G |
probably benign |
Het |
Fhad1 |
A |
G |
4: 141,618,250 (GRCm39) |
L1392P |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,874,754 (GRCm39) |
T2306S |
probably benign |
Het |
Gdf7 |
G |
T |
12: 8,351,854 (GRCm39) |
A27E |
unknown |
Het |
Hnrnph1 |
A |
T |
11: 50,270,324 (GRCm39) |
I43F |
probably damaging |
Het |
Igkv8-27 |
T |
A |
6: 70,148,999 (GRCm39) |
S52C |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,052,824 (GRCm39) |
F24L |
probably damaging |
Het |
Knl1 |
T |
G |
2: 118,902,037 (GRCm39) |
L1246R |
probably benign |
Het |
Limk2 |
C |
T |
11: 3,305,896 (GRCm39) |
S191N |
probably damaging |
Het |
Mdga2 |
C |
A |
12: 66,736,125 (GRCm39) |
A368S |
possibly damaging |
Het |
Mdga2 |
G |
A |
12: 66,736,124 (GRCm39) |
A368V |
probably damaging |
Het |
Med24 |
A |
T |
11: 98,595,793 (GRCm39) |
L966Q |
probably damaging |
Het |
Mgll |
T |
C |
6: 88,702,770 (GRCm39) |
V23A |
possibly damaging |
Het |
Nedd1 |
C |
T |
10: 92,550,034 (GRCm39) |
D84N |
probably benign |
Het |
Obscn |
A |
C |
11: 58,951,681 (GRCm39) |
L4024R |
probably damaging |
Het |
Or5k1b |
A |
T |
16: 58,580,782 (GRCm39) |
Y252* |
probably null |
Het |
Pcnx2 |
T |
C |
8: 126,577,846 (GRCm39) |
I944V |
probably benign |
Het |
Pecr |
T |
C |
1: 72,306,157 (GRCm39) |
|
probably null |
Het |
Phf3 |
A |
T |
1: 30,843,305 (GRCm39) |
W1885R |
probably damaging |
Het |
Pitpnm2 |
C |
G |
5: 124,266,768 (GRCm39) |
A697P |
probably benign |
Het |
Piwil2 |
T |
A |
14: 70,631,638 (GRCm39) |
H602L |
probably benign |
Het |
Pprc1 |
T |
C |
19: 46,053,781 (GRCm39) |
S1104P |
unknown |
Het |
Prkar1a |
T |
A |
11: 109,544,673 (GRCm39) |
Y21* |
probably null |
Het |
Prl2c3 |
A |
T |
13: 12,813,186 (GRCm39) |
Y9* |
probably null |
Het |
Rhbdl3 |
T |
A |
11: 80,214,405 (GRCm39) |
L172Q |
possibly damaging |
Het |
Rsph3a |
T |
G |
17: 8,198,075 (GRCm39) |
L484W |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,530,962 (GRCm39) |
S809T |
probably benign |
Het |
Stmnd1 |
T |
A |
13: 46,453,077 (GRCm39) |
V251E |
possibly damaging |
Het |
Stt3a |
A |
T |
9: 36,662,535 (GRCm39) |
C241* |
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,401 (GRCm39) |
M209K |
probably damaging |
Het |
Tchh |
G |
T |
3: 93,352,084 (GRCm39) |
R508L |
unknown |
Het |
Tgfbr3l |
T |
C |
8: 4,300,622 (GRCm39) |
S267P |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,598,144 (GRCm39) |
I19590F |
probably damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,035 (GRCm39) |
T87A |
probably benign |
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 |
IGL01289:Ccng2
|
APN |
5 |
93,421,276 (GRCm39) |
missense |
probably null |
0.88 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGTGTAAGTAATACTTGGAGTG -3'
(R):5'- AAGACGCCTGCTTACCTTTC -3'
Sequencing Primer
(F):5'- GGAGTGTTATTTCAACCAGCAGTTCC -3'
(R):5'- TTTCACTTCCGTCAAAGCAAC -3'
|
Posted On |
2019-11-26 |