Incidental Mutation 'R7874:Ccng2'
| ID |
608313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| MMRRC Submission |
045926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7874 (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: 99.9%
- 10x: 99.7%
- 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
A |
3: 6,685,201 (GRCm39) |
K84N |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,583,271 (GRCm39) |
F276L |
possibly damaging |
Het |
| Aicda |
T |
A |
6: 122,538,908 (GRCm39) |
I179N |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,049,275 (GRCm39) |
H210L |
unknown |
Het |
| Ano1 |
G |
A |
7: 144,175,461 (GRCm39) |
R486W |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,600 (GRCm39) |
N536S |
possibly damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,095 (GRCm39) |
V341A |
probably benign |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam19 |
A |
T |
7: 19,620,363 (GRCm39) |
D89E |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,168,981 (GRCm39) |
R407S |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,667,224 (GRCm39) |
T389A |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,346,056 (GRCm39) |
|
probably null |
Het |
| Defa39 |
C |
A |
8: 22,192,812 (GRCm39) |
R61S |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,485 (GRCm39) |
Q558R |
possibly damaging |
Het |
| Dhx36 |
C |
A |
3: 62,396,052 (GRCm39) |
V452L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,185,687 (GRCm39) |
V1906A |
probably damaging |
Het |
| Emc4 |
T |
C |
2: 112,194,178 (GRCm39) |
T159A |
probably damaging |
Het |
| Fstl5 |
C |
A |
3: 76,569,093 (GRCm39) |
P582Q |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,811,875 (GRCm39) |
Y171F |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,879,566 (GRCm39) |
V401M |
probably damaging |
Het |
| Jph2 |
C |
T |
2: 163,217,762 (GRCm39) |
G305S |
probably damaging |
Het |
| Kbtbd13 |
C |
A |
9: 65,297,584 (GRCm39) |
V451L |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,409,077 (GRCm39) |
T813A |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,875,783 (GRCm39) |
L1295P |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,155,374 (GRCm39) |
D362E |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,290 (GRCm39) |
Y77C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Mup8 |
T |
A |
4: 60,222,420 (GRCm39) |
H17L |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,413 (GRCm39) |
M231L |
probably benign |
Het |
| Obscn |
T |
G |
11: 59,024,102 (GRCm39) |
T523P |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,573 (GRCm39) |
V301A |
possibly damaging |
Het |
| P4htm |
G |
T |
9: 108,474,148 (GRCm39) |
A130E |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,863 (GRCm39) |
D439E |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,317,603 (GRCm39) |
I1275V |
probably benign |
Het |
| Poln |
A |
T |
5: 34,181,694 (GRCm39) |
I719N |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,963,161 (GRCm39) |
L216Q |
possibly damaging |
Het |
| Rarres2 |
T |
A |
6: 48,549,079 (GRCm39) |
K41N |
probably benign |
Het |
| Rasal3 |
C |
T |
17: 32,615,681 (GRCm39) |
E386K |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,491 (GRCm39) |
I996T |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,131,100 (GRCm39) |
N36S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,203,983 (GRCm39) |
V526A |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,456,184 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
G |
A |
17: 24,034,652 (GRCm39) |
R432H |
unknown |
Het |
| Th |
G |
A |
7: 142,449,308 (GRCm39) |
R266* |
probably null |
Het |
| Tln1 |
T |
C |
4: 43,538,041 (GRCm39) |
Y1853C |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,606 (GRCm39) |
D169E |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,386,889 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,930,417 (GRCm39) |
E2034G |
probably damaging |
Het |
| Top6bl |
C |
T |
19: 4,708,451 (GRCm39) |
C347Y |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,522,881 (GRCm39) |
T346A |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,453 (GRCm39) |
V842E |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,345 (GRCm39) |
N781K |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,978 (GRCm39) |
Y67N |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,558 (GRCm39) |
T229A |
probably benign |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,773,217 (GRCm39) |
H1769R |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,750,479 (GRCm39) |
V929A |
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 |
|
R7745: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'- CACTACTAAACAGTGTACTTGGTTG -3'
(R):5'- ATAGTGGGCAGCTCAGGAAC -3'
Sequencing Primer
(F):5'- GGAGTGTTATTTCAACCAGCAGTTCC -3'
(R):5'- CAGGAACACTGTAGTAGCTGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation