Incidental Mutation 'R7271:Ccng2'
| ID |
565287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| MMRRC Submission |
045356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7271 (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 |
100% (58/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
C |
T |
10: 42,291,544 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alpk3 |
A |
G |
7: 80,728,202 (GRCm39) |
E444G |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,123 (GRCm39) |
D439E |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,781 (GRCm39) |
Y222C |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,421,944 (GRCm39) |
K827Q |
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,576,047 (GRCm39) |
|
|
Het |
| Casp7 |
T |
A |
19: 56,424,793 (GRCm39) |
C171S |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,164 (GRCm39) |
|
probably null |
Het |
| Cdkl1 |
A |
G |
12: 69,795,585 (GRCm39) |
L315S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,148,708 (GRCm39) |
I240T |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,619 (GRCm39) |
S1163* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 17,077,295 (GRCm39) |
W121R |
probably damaging |
Het |
| Cyyr1 |
A |
T |
16: 85,262,493 (GRCm39) |
M88K |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,049,954 (GRCm39) |
Q587R |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,223,750 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Dynap |
T |
A |
18: 70,374,320 (GRCm39) |
T69S |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,733,874 (GRCm39) |
C225R |
probably damaging |
Het |
| Fbxo31 |
C |
T |
8: 122,305,503 (GRCm39) |
|
probably benign |
Het |
| Fndc11 |
G |
A |
2: 180,863,893 (GRCm39) |
V233I |
possibly damaging |
Het |
| Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,433,758 (GRCm39) |
L223P |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,357,042 (GRCm39) |
H20Q |
probably damaging |
Het |
| Impa2 |
T |
A |
18: 67,439,806 (GRCm39) |
I101N |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,570 (GRCm39) |
T854S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,423 (GRCm39) |
C385S |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,853 (GRCm39) |
S543G |
probably benign |
Het |
| Manba |
A |
T |
3: 135,248,137 (GRCm39) |
Y342F |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,893,231 (GRCm39) |
D758G |
probably benign |
Het |
| Mtor |
G |
T |
4: 148,630,942 (GRCm39) |
A2300S |
possibly damaging |
Het |
| Musk |
T |
A |
4: 58,373,409 (GRCm39) |
M793K |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Or10ab4 |
G |
A |
7: 107,654,423 (GRCm39) |
R78Q |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,114,725 (GRCm39) |
N30K |
probably benign |
Het |
| Or4k77 |
A |
G |
2: 111,199,693 (GRCm39) |
T239A |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,905,953 (GRCm39) |
Y259* |
probably null |
Het |
| Pcdh12 |
C |
A |
18: 38,416,100 (GRCm39) |
V342F |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,222 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,690 (GRCm39) |
A587V |
probably benign |
Het |
| Phkb |
C |
T |
8: 86,770,418 (GRCm39) |
P896S |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,543,877 (GRCm39) |
S165P |
probably benign |
Het |
| Prss43 |
A |
G |
9: 110,657,671 (GRCm39) |
D190G |
probably damaging |
Het |
| Psmd14 |
T |
C |
2: 61,591,356 (GRCm39) |
V53A |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,273,704 (GRCm39) |
H1054P |
probably damaging |
Het |
| Selenoh |
T |
C |
2: 84,500,631 (GRCm39) |
R70G |
probably damaging |
Het |
| Serpinb9d |
A |
G |
13: 33,378,617 (GRCm39) |
Q21R |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,288 (GRCm39) |
E262G |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,384 (GRCm39) |
L407P |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,325 (GRCm39) |
V266A |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,913 (GRCm39) |
R738S |
probably benign |
Het |
| Speer4a2 |
G |
A |
5: 26,292,993 (GRCm39) |
T67I |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,442,715 (GRCm39) |
G38S |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,838,972 (GRCm39) |
|
probably null |
Het |
| Syde2 |
A |
G |
3: 145,726,031 (GRCm39) |
N1308D |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,611 (GRCm39) |
M1151K |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,727,820 (GRCm39) |
I861F |
possibly damaging |
Het |
| Zfp319 |
G |
A |
8: 96,058,471 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,831,907 (GRCm39) |
N33D |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,591,415 (GRCm39) |
I90F |
probably benign |
Het |
| Zmiz2 |
G |
T |
11: 6,349,593 (GRCm39) |
V412L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTACTAAACAGTGTACTTGGTTGG -3'
(R):5'- ATAGTGGGCAGCTCAGGAAC -3'
Sequencing Primer
(F):5'- GGAGTGTTATTTCAACCAGCAGTTCC -3'
(R):5'- CAGGAACACTGTAGTAGCTGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation