Incidental Mutation 'R8528:Ccng2'
| ID |
658894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| MMRRC Submission |
068498-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
93415432-93424090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93417164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031331]
[ENSMUST00000121127]
|
| AlphaFold |
O08918 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031331
AA Change: V60A
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031331
Gene: ENSMUSG00000029385
AA Change: V60A
| 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 |
possibly damaging
Transcript: ENSMUST00000121127
AA Change: V60A
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113278
Gene: ENSMUSG00000029385
AA Change: V60A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,447,700 (GRCm39) |
I169L |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,092 (GRCm39) |
K2125N |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,078,138 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
A |
G |
1: 74,945,096 (GRCm39) |
V1442A |
possibly damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,993 (GRCm39) |
E387D |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,261,918 (GRCm39) |
S2729P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,972,538 (GRCm39) |
F2882S |
probably damaging |
Het |
| Dpy30 |
T |
C |
17: 74,606,757 (GRCm39) |
D97G |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,078 (GRCm39) |
V454E |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,614,757 (GRCm39) |
C240* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,686 (GRCm39) |
D297G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,456,855 (GRCm39) |
Y1611C |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,813,652 (GRCm39) |
K191E |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,285,034 (GRCm39) |
V1285A |
probably benign |
Het |
| Gfpt1 |
G |
C |
6: 87,043,770 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
T |
C |
5: 110,090,896 (GRCm39) |
Y383H |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,189 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,364,913 (GRCm39) |
I238T |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,300,387 (GRCm39) |
D79E |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,557 (GRCm39) |
Y124H |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,352 (GRCm39) |
M254K |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,451,821 (GRCm39) |
N1489S |
probably damaging |
Het |
| Mapk8ip2 |
A |
G |
15: 89,339,422 (GRCm39) |
D34G |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,767,423 (GRCm39) |
T876A |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,439 (GRCm39) |
T568I |
probably benign |
Het |
| Pcdhga2 |
G |
T |
18: 37,802,221 (GRCm39) |
A22S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,811 (GRCm39) |
T755I |
probably benign |
Het |
| Sertad4 |
A |
G |
1: 192,533,391 (GRCm39) |
V15A |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,286,223 (GRCm39) |
K520E |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,127,140 (GRCm39) |
V831A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Sprn |
C |
T |
7: 139,733,423 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,080,289 (GRCm39) |
|
probably benign |
Het |
| Stk24 |
C |
A |
14: 121,529,447 (GRCm39) |
A402S |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,326 (GRCm39) |
L712P |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,668 (GRCm39) |
G269S |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,545 (GRCm39) |
E308G |
possibly damaging |
Het |
| Zfp442 |
A |
C |
2: 150,250,962 (GRCm39) |
H312Q |
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 |
|
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 |
|
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 |
|
R9010:Ccng2
|
UTSW |
5 |
93,416,616 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTAACTACCTTGGGTGGG -3'
(R):5'- ACGCAGAAATACAGTTTTCCAGTC -3'
Sequencing Primer
(F):5'- GGGGCAACACTTCACGTTATATTGAG -3'
(R):5'- CACTGGCCATTGGAAACATGTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation