Incidental Mutation 'R7884:Ccng2'
| ID |
608934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| MMRRC Submission |
045936-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7884 (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: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
T |
C |
16: 38,422,593 (GRCm39) |
T1158A |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,171,810 (GRCm39) |
E1530G |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,533,264 (GRCm39) |
F113S |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,011,418 (GRCm39) |
N2545S |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,943,476 (GRCm39) |
D49G |
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,697 (GRCm39) |
Y172F |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,842,911 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 50,026,474 (GRCm39) |
T1861A |
possibly damaging |
Het |
| Dnah7c |
C |
T |
1: 46,830,929 (GRCm39) |
L3813F |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,307,307 (GRCm39) |
I68V |
probably damaging |
Het |
| Etnk2 |
T |
C |
1: 133,293,438 (GRCm39) |
V127A |
possibly damaging |
Het |
| Fank1 |
G |
C |
7: 133,478,554 (GRCm39) |
R206P |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 106,042,165 (GRCm39) |
I221T |
probably benign |
Het |
| Fbxw27 |
G |
A |
9: 109,618,468 (GRCm39) |
R73* |
probably null |
Het |
| Fndc1 |
A |
T |
17: 7,992,029 (GRCm39) |
S556T |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,055 (GRCm39) |
T178A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,225 (GRCm39) |
S57P |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,677,174 (GRCm39) |
L326Q |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,393,344 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,387,057 (GRCm39) |
P995L |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,076,430 (GRCm39) |
G1068D |
|
Het |
| Lats1 |
A |
T |
10: 7,573,290 (GRCm39) |
K125* |
probably null |
Het |
| Lipg |
C |
T |
18: 75,081,078 (GRCm39) |
M334I |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,518,909 (GRCm39) |
E1905V |
probably damaging |
Het |
| Lpin1 |
C |
T |
12: 16,612,370 (GRCm39) |
G544D |
|
Het |
| Lyst |
A |
T |
13: 13,882,268 (GRCm39) |
N2853I |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,136,114 (GRCm39) |
I525T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,216 (GRCm39) |
D170E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,917,911 (GRCm39) |
V28A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,990 (GRCm39) |
V4101E |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,817,270 (GRCm39) |
Y771C |
probably damaging |
Het |
| Nr2f1 |
G |
A |
13: 78,337,988 (GRCm39) |
T376I |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,461,068 (GRCm39) |
T2535A |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,825,556 (GRCm39) |
T428S |
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,630 (GRCm39) |
M227V |
probably damaging |
Het |
| Osbpl7 |
A |
C |
11: 96,951,283 (GRCm39) |
I657L |
possibly damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,205,730 (GRCm39) |
V572A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,624 (GRCm39) |
V537A |
probably benign |
Het |
| Pou2f2 |
T |
C |
7: 24,815,489 (GRCm39) |
M93V |
probably benign |
Het |
| Ppip5k2 |
T |
C |
1: 97,668,207 (GRCm39) |
T640A |
probably benign |
Het |
| Ptar1 |
C |
T |
19: 23,686,158 (GRCm39) |
P157S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,973,933 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Rgs7 |
A |
T |
1: 174,977,216 (GRCm39) |
|
probably null |
Het |
| Rhag |
A |
G |
17: 41,142,536 (GRCm39) |
Y247C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,129,383 (GRCm39) |
I305T |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,633,617 (GRCm39) |
I372T |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,366,859 (GRCm39) |
D54E |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 21,832,981 (GRCm39) |
T90A |
probably benign |
Het |
| Serpinh1 |
C |
T |
7: 98,998,495 (GRCm39) |
R45H |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,703 (GRCm39) |
V152A |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,174,337 (GRCm39) |
M1314L |
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,759,002 (GRCm39) |
F63S |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,492,509 (GRCm39) |
L133Q |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,908,771 (GRCm39) |
E117G |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,212 (GRCm39) |
S1245P |
possibly damaging |
Het |
| Tmem235 |
G |
A |
11: 117,755,033 (GRCm39) |
V162M |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,221,584 (GRCm39) |
T2774A |
probably benign |
Het |
| Trav10n |
A |
T |
14: 53,359,587 (GRCm39) |
H6L |
probably benign |
Het |
| Trav13d-3 |
G |
A |
14: 53,270,704 (GRCm39) |
W55* |
probably null |
Het |
| Zfp654 |
G |
T |
16: 64,672,011 (GRCm39) |
A2E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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'- GAAGACGCCTGCTTACCTTTC -3'
Sequencing Primer
(F):5'- GGAGTGTTATTTCAACCAGCAGTTCC -3'
(R):5'- TTTCACTTCCGTCAAAGCAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation