Incidental Mutation 'R5847:Cnot2'
ID |
453685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot2
|
Ensembl Gene |
ENSMUSG00000020166 |
Gene Name |
CCR4-NOT transcription complex, subunit 2 |
Synonyms |
2600016M12Rik, 2810470K03Rik |
MMRRC Submission |
044065-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.894)
|
Stock # |
R5847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116363851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 18
(T18A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020374]
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000169507]
[ENSMUST00000169921]
[ENSMUST00000218490]
[ENSMUST00000168036]
[ENSMUST00000169576]
[ENSMUST00000218744]
|
AlphaFold |
Q8C5L3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020374
AA Change: T18A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105265
|
SMART Domains |
Protein: ENSMUSP00000100900 Gene: ENSMUSG00000020166
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 |
probably benign
Transcript: ENSMUST00000105267
AA Change: T18A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000100902 Gene: ENSMUSG00000020166 AA Change: T18A
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 |
probably benign
Transcript: ENSMUST00000164088
|
SMART Domains |
Protein: ENSMUSP00000127830 Gene: ENSMUSG00000020166
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: ENSMUST00000165527
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169937
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171944
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167706
AA Change: T18A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000128837 Gene: ENSMUSG00000020166 AA Change: T18A
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 |
unknown
Transcript: ENSMUST00000169507
AA Change: D37G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169921
AA Change: T18A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132152 Gene: ENSMUSG00000020166 AA Change: T18A
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 |
noncoding transcript
Transcript: ENSMUST00000176664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218490
AA Change: D37G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168036
|
SMART Domains |
Protein: ENSMUSP00000132315 Gene: ENSMUSG00000020166
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 |
probably benign
Transcript: ENSMUST00000169576
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218744
AA Change: T18A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220305
|
Meta Mutation Damage Score |
0.2713 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (62/62) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
A |
10: 14,302,521 (GRCm39) |
Y964F |
probably damaging |
Het |
Akap3 |
T |
A |
6: 126,842,521 (GRCm39) |
L380Q |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,723 (GRCm39) |
I760T |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,910,412 (GRCm39) |
F701L |
probably damaging |
Het |
Arhgap20 |
G |
A |
9: 51,736,276 (GRCm39) |
|
probably benign |
Het |
Cacng3 |
T |
C |
7: 122,361,532 (GRCm39) |
F113S |
possibly damaging |
Het |
Ccdc158 |
G |
T |
5: 92,775,339 (GRCm39) |
N955K |
probably benign |
Het |
Ccdc63 |
T |
A |
5: 122,254,908 (GRCm39) |
M368L |
possibly damaging |
Het |
Ctnna2 |
A |
T |
6: 76,950,820 (GRCm39) |
D550E |
possibly damaging |
Het |
Cyp2c37 |
C |
T |
19: 40,000,176 (GRCm39) |
R433W |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
Dek |
A |
G |
13: 47,255,077 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
CAGTTGCTTAAA |
CA |
11: 65,986,066 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
G |
12: 40,671,250 (GRCm39) |
Y23C |
probably damaging |
Het |
Edar |
T |
A |
10: 58,439,001 (GRCm39) |
S344C |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,073,270 (GRCm39) |
V2431A |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,562,068 (GRCm39) |
|
probably benign |
Het |
Idh3b |
A |
T |
2: 130,125,948 (GRCm39) |
D41E |
probably benign |
Het |
Igkv8-24 |
A |
T |
6: 70,193,956 (GRCm39) |
V84D |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,749,164 (GRCm39) |
L778Q |
probably benign |
Het |
Mgam |
T |
C |
6: 40,660,989 (GRCm39) |
I1118T |
probably benign |
Het |
Mtmr3 |
A |
G |
11: 4,432,925 (GRCm39) |
V1116A |
probably damaging |
Het |
Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
Ncr1 |
A |
T |
7: 4,347,573 (GRCm39) |
D246V |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,880,236 (GRCm39) |
E86G |
probably damaging |
Het |
Or2l13b |
A |
T |
16: 19,349,076 (GRCm39) |
V198E |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,719,064 (GRCm39) |
Y130F |
probably benign |
Het |
Or8h7 |
A |
C |
2: 86,720,676 (GRCm39) |
V281G |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,912,193 (GRCm39) |
I275L |
probably benign |
Het |
Pde12 |
A |
G |
14: 26,386,786 (GRCm39) |
V574A |
possibly damaging |
Het |
Pdxk |
G |
T |
10: 78,280,872 (GRCm39) |
D189E |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,444,960 (GRCm39) |
E2276* |
probably null |
Het |
Ppp1r10 |
A |
G |
17: 36,237,739 (GRCm39) |
N237S |
possibly damaging |
Het |
Rheb |
T |
A |
5: 25,012,067 (GRCm39) |
Y131F |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 92,031,613 (GRCm39) |
D88G |
probably damaging |
Het |
Scgb2b33 |
T |
C |
7: 32,812,239 (GRCm39) |
|
noncoding transcript |
Het |
Snx9 |
C |
A |
17: 5,974,896 (GRCm39) |
N461K |
possibly damaging |
Het |
Tbc1d2b |
C |
A |
9: 90,091,777 (GRCm39) |
V842F |
probably damaging |
Het |
Tgfbi |
G |
A |
13: 56,784,418 (GRCm39) |
E615K |
possibly damaging |
Het |
Tmem51 |
A |
G |
4: 141,759,346 (GRCm39) |
M134T |
probably damaging |
Het |
Tox4 |
A |
G |
14: 52,524,241 (GRCm39) |
D125G |
probably damaging |
Het |
Trappc3 |
A |
T |
4: 126,167,771 (GRCm39) |
N110I |
probably damaging |
Het |
Trim11 |
T |
A |
11: 58,881,419 (GRCm39) |
D437E |
probably damaging |
Het |
Ttc23l |
T |
C |
15: 10,537,682 (GRCm39) |
N196S |
probably benign |
Het |
Wnk1 |
C |
A |
6: 119,969,369 (GRCm39) |
G362V |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,758,153 (GRCm39) |
F731S |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,662,174 (GRCm39) |
D140E |
possibly damaging |
Het |
Zfp24 |
G |
A |
18: 24,151,095 (GRCm39) |
P17L |
possibly damaging |
Het |
Zfp354b |
T |
C |
11: 50,814,043 (GRCm39) |
E294G |
probably damaging |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zfp868 |
T |
C |
8: 70,064,303 (GRCm39) |
H344R |
probably damaging |
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 |
|
R6444:Cnot2
|
UTSW |
10 |
116,335,260 (GRCm39) |
missense |
probably benign |
0.02 |
R6733:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
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'- AGGACCTACACCTATGCTTAGC -3'
(R):5'- TGTGGGGCCGTGAAAATATACC -3'
Sequencing Primer
(F):5'- TATGCTTAGCACAGACAATCCCCTG -3'
(R):5'- GGGCCGTGAAAATATACCATATAGTC -3'
|
Posted On |
2017-02-10 |