Incidental Mutation 'R6733:Cnot2'
ID |
530150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot2
|
Ensembl Gene |
ENSMUSG00000020166 |
Gene Name |
CCR4-NOT transcription complex, subunit 2 |
Synonyms |
2600016M12Rik, 2810470K03Rik |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.894)
|
Stock # |
R6733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 116334058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 371
(P371S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000168036]
[ENSMUST00000169921]
[ENSMUST00000169576]
|
AlphaFold |
Q8C5L3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105265
AA Change: P286S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100900 Gene: ENSMUSG00000020166 AA Change: P286S
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
Pfam:NOT2_3_5
|
310 |
437 |
1e-36 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105267
AA Change: P371S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000100902 Gene: ENSMUSG00000020166 AA Change: P371S
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
Pfam:NOT2_3_5
|
396 |
521 |
8.8e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164088
AA Change: P330S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127830 Gene: ENSMUSG00000020166 AA Change: P330S
Domain | Start | End | E-Value | Type |
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
Pfam:NOT2_3_5
|
354 |
481 |
2.6e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166166
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167706
AA Change: P321S
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128837 Gene: ENSMUSG00000020166 AA Change: P321S
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
Pfam:NOT2_3_5
|
345 |
472 |
2.5e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168036
AA Change: P330S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132315 Gene: ENSMUSG00000020166 AA Change: P330S
Domain | Start | End | E-Value | Type |
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
Pfam:NOT2_3_5
|
354 |
481 |
2.6e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169921
AA Change: P371S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132152 Gene: ENSMUSG00000020166 AA Change: P371S
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
Pfam:NOT2_3_5
|
395 |
522 |
1.2e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169937
|
Meta Mutation Damage Score |
0.1595 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cnot2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Cnot2
|
APN |
10 |
116,342,976 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02433:Cnot2
|
APN |
10 |
116,328,241 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03066:Cnot2
|
APN |
10 |
116,335,262 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03383:Cnot2
|
APN |
10 |
116,330,722 (GRCm39) |
splice site |
probably benign |
|
R0145:Cnot2
|
UTSW |
10 |
116,353,273 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0497:Cnot2
|
UTSW |
10 |
116,334,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R0615:Cnot2
|
UTSW |
10 |
116,334,141 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1935:Cnot2
|
UTSW |
10 |
116,334,320 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1985:Cnot2
|
UTSW |
10 |
116,363,781 (GRCm39) |
missense |
probably damaging |
0.99 |
R2148:Cnot2
|
UTSW |
10 |
116,342,185 (GRCm39) |
missense |
probably benign |
0.01 |
R4063:Cnot2
|
UTSW |
10 |
116,373,301 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4179:Cnot2
|
UTSW |
10 |
116,334,048 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4196:Cnot2
|
UTSW |
10 |
116,337,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4523:Cnot2
|
UTSW |
10 |
116,417,379 (GRCm39) |
unclassified |
probably benign |
|
R4572:Cnot2
|
UTSW |
10 |
116,330,751 (GRCm39) |
missense |
probably benign |
0.37 |
R4610:Cnot2
|
UTSW |
10 |
116,335,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R5219:Cnot2
|
UTSW |
10 |
116,342,215 (GRCm39) |
splice site |
probably null |
|
R5847:Cnot2
|
UTSW |
10 |
116,363,851 (GRCm39) |
missense |
probably damaging |
0.98 |
R6444:Cnot2
|
UTSW |
10 |
116,335,260 (GRCm39) |
missense |
probably benign |
0.02 |
R6734:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6735:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6944:Cnot2
|
UTSW |
10 |
116,373,128 (GRCm39) |
intron |
probably benign |
|
R7139:Cnot2
|
UTSW |
10 |
116,330,924 (GRCm39) |
missense |
probably benign |
0.00 |
R7248:Cnot2
|
UTSW |
10 |
116,334,278 (GRCm39) |
missense |
probably benign |
0.05 |
R7423:Cnot2
|
UTSW |
10 |
116,328,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Cnot2
|
UTSW |
10 |
116,342,985 (GRCm39) |
missense |
probably benign |
0.12 |
R7851:Cnot2
|
UTSW |
10 |
116,373,337 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8245:Cnot2
|
UTSW |
10 |
116,346,294 (GRCm39) |
missense |
probably benign |
0.07 |
R8350:Cnot2
|
UTSW |
10 |
116,322,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8463:Cnot2
|
UTSW |
10 |
116,353,236 (GRCm39) |
missense |
probably benign |
0.11 |
R9045:Cnot2
|
UTSW |
10 |
116,322,160 (GRCm39) |
missense |
probably benign |
0.05 |
R9175:Cnot2
|
UTSW |
10 |
116,334,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9229:Cnot2
|
UTSW |
10 |
116,384,960 (GRCm39) |
nonsense |
probably null |
|
R9343:Cnot2
|
UTSW |
10 |
116,346,326 (GRCm39) |
missense |
|
|
R9508:Cnot2
|
UTSW |
10 |
116,329,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTCTGAGGCTCTCTGTGG -3'
(R):5'- AAGGGGATCCAGGTGTTACC -3'
Sequencing Primer
(F):5'- GGATAACACCTATAATGCCTGCCTG -3'
(R):5'- TGGGACTCCATAAATATGTCAGAG -3'
|
Posted On |
2018-08-01 |