Incidental Mutation 'R8282:Ccng2'
| ID |
638247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| MMRRC Submission |
067705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
93267257-93276231 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 93273343 bp (GRCm38)
|
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
A |
1: 165,510,337 (GRCm38) |
D173E |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,777,806 (GRCm38) |
D721G |
possibly damaging |
Het |
| Allc |
T |
C |
12: 28,557,357 (GRCm38) |
T299A |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,323,041 (GRCm38) |
|
probably benign |
Het |
| Axl |
C |
T |
7: 25,763,954 (GRCm38) |
D633N |
probably benign |
Het |
| Brf2 |
G |
T |
8: 27,124,593 (GRCm38) |
R30S |
|
Het |
| Bsn |
A |
G |
9: 108,107,691 (GRCm38) |
S283P |
possibly damaging |
Het |
| Ces1d |
A |
T |
8: 93,186,112 (GRCm38) |
S233T |
possibly damaging |
Het |
| Chst15 |
T |
A |
7: 132,270,150 (GRCm38) |
H134L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,420,880 (GRCm38) |
T846A |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,434,229 (GRCm38) |
D555V |
probably damaging |
Het |
| Cyld |
C |
A |
8: 88,705,415 (GRCm38) |
P14T |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,199,756 (GRCm38) |
R1264H |
possibly damaging |
Het |
| Dkk3 |
T |
A |
7: 112,118,282 (GRCm38) |
S327C |
probably damaging |
Het |
| Dnmbp |
T |
G |
19: 43,890,566 (GRCm38) |
H22P |
unknown |
Het |
| Fabp4 |
T |
A |
3: 10,205,282 (GRCm38) |
T103S |
probably benign |
Het |
| Fam129b |
A |
G |
2: 32,919,017 (GRCm38) |
E205G |
probably benign |
Het |
| Fam43a |
T |
C |
16: 30,601,288 (GRCm38) |
L230P |
probably damaging |
Het |
| Fam46c |
A |
G |
3: 100,473,011 (GRCm38) |
V143A |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 76,002,775 (GRCm38) |
|
probably benign |
Het |
| Fank1 |
T |
A |
7: 133,876,764 (GRCm38) |
Y186N |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 56,591,520 (GRCm38) |
R286K |
possibly damaging |
Het |
| Fmnl2 |
G |
A |
2: 53,107,666 (GRCm38) |
|
probably null |
Het |
| Gli2 |
T |
A |
1: 118,837,971 (GRCm38) |
S817C |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 89,898,241 (GRCm38) |
V76M |
noncoding transcript |
Het |
| Gm13212 |
A |
T |
4: 145,622,977 (GRCm38) |
D328V |
possibly damaging |
Het |
| Gm4981 |
T |
G |
10: 58,236,326 (GRCm38) |
Q22P |
possibly damaging |
Het |
| Gstt2 |
C |
G |
10: 75,832,457 (GRCm38) |
A155P |
probably benign |
Het |
| Ints9 |
T |
A |
14: 65,007,308 (GRCm38) |
M213K |
probably benign |
Het |
| Jak1 |
G |
A |
4: 101,179,541 (GRCm38) |
R301* |
probably null |
Het |
| Kdsr |
T |
C |
1: 106,724,997 (GRCm38) |
T302A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,024,123 (GRCm38) |
E460G |
probably damaging |
Het |
| Larp1b |
G |
A |
3: 41,036,810 (GRCm38) |
R193H |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,191,489 (GRCm38) |
K487R |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 72,704,952 (GRCm38) |
S1193T |
probably damaging |
Het |
| Olfr1122 |
A |
T |
2: 87,388,508 (GRCm38) |
T268S |
probably benign |
Het |
| Olfr195 |
T |
A |
16: 59,149,166 (GRCm38) |
C105* |
probably null |
Het |
| Olfr921 |
G |
A |
9: 38,775,281 (GRCm38) |
V9M |
noncoding transcript |
Het |
| Padi1 |
T |
C |
4: 140,814,703 (GRCm38) |
H636R |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,498,070 (GRCm38) |
I266T |
probably damaging |
Het |
| Rell2 |
A |
T |
18: 37,957,612 (GRCm38) |
Q114L |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,268,946 (GRCm38) |
|
probably null |
Het |
| Rpia |
T |
C |
6: 70,771,018 (GRCm38) |
N265D |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGCGGCGG |
7: 97,579,920 (GRCm38) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,860,249 (GRCm38) |
D16G |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,098,689 (GRCm38) |
|
probably null |
Het |
| Slc6a3 |
T |
A |
13: 73,557,081 (GRCm38) |
D230E |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,376,800 (GRCm38) |
R180G |
probably benign |
Het |
| Synpo2l |
A |
G |
14: 20,661,136 (GRCm38) |
V472A |
probably benign |
Het |
| Taf6l |
A |
G |
19: 8,773,350 (GRCm38) |
I120T |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,516,589 (GRCm38) |
D328G |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,199,042 (GRCm38) |
S1836P |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,254,581 (GRCm38) |
L64F |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,715,674 (GRCm38) |
Y212* |
probably null |
Het |
| Vps54 |
T |
A |
11: 21,300,464 (GRCm38) |
|
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,204,789 (GRCm38) |
H231Q |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 11,162,442 (GRCm38) |
T334S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,261,610 (GRCm38) |
M207V |
probably benign |
Het |
|
| Other mutations in Ccng2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01148:Ccng2
|
APN |
5 |
93,270,887 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01289:Ccng2
|
APN |
5 |
93,273,417 (GRCm38) |
missense |
probably null |
0.88 |
|
R0133:Ccng2
|
UTSW |
5 |
93,273,381 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0266:Ccng2
|
UTSW |
5 |
93,271,289 (GRCm38) |
splice site |
probably benign |
|
|
R0346:Ccng2
|
UTSW |
5 |
93,270,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0401:Ccng2
|
UTSW |
5 |
93,273,413 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1087:Ccng2
|
UTSW |
5 |
93,273,444 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1373:Ccng2
|
UTSW |
5 |
93,271,055 (GRCm38) |
splice site |
probably benign |
|
|
R1696:Ccng2
|
UTSW |
5 |
93,273,382 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3727:Ccng2
|
UTSW |
5 |
93,274,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Ccng2
|
UTSW |
5 |
93,269,398 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6337:Ccng2
|
UTSW |
5 |
93,270,921 (GRCm38) |
missense |
probably benign |
|
|
R6611:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7077:Ccng2
|
UTSW |
5 |
93,269,340 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7140:Ccng2
|
UTSW |
5 |
93,268,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7161:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7193:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7233:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7235:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7269:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7270:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7271:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7449:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7451:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7567:Ccng2
|
UTSW |
5 |
93,270,872 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7614:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7657:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7658:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7743:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7744:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7745:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7874:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7875:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7876:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7877:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7884:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8053:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8279:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8492:Ccng2
|
UTSW |
5 |
93,271,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8504:Ccng2
|
UTSW |
5 |
93,273,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8528:Ccng2
|
UTSW |
5 |
93,269,305 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9010:Ccng2
|
UTSW |
5 |
93,268,757 (GRCm38) |
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 |
2020-07-28 |
Incidental Mutation