Incidental Mutation 'R6611:Ccng2'
| ID |
523563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| MMRRC Submission |
044734-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
| Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
| Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
| Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
| Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
| Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
| Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
| Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
| Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
| Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
| Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
| Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
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 |
|
|
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 |
|
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'- CTTTCACTTCCGTCAAAGCAAC -3'
Sequencing Primer
(F):5'- GGAGTGTTATTTCAACCAGCAGTTCC -3'
(R):5'- ACTGTAGTAGCTGCTGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation