Incidental Mutation 'R9175:Cnot2'
ID |
696631 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot2
|
Ensembl Gene |
ENSMUSG00000020166 |
Gene Name |
CCR4-NOT transcription complex, subunit 2 |
Synonyms |
2600016M12Rik, 2810470K03Rik |
MMRRC Submission |
068948-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.894)
|
Stock # |
R9175 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116334051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 373
(M373K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000168036]
[ENSMUST00000169576]
[ENSMUST00000169921]
|
AlphaFold |
Q8C5L3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105265
AA Change: M288K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100900 Gene: ENSMUSG00000020166 AA Change: M288K
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: M373K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100902 Gene: ENSMUSG00000020166 AA Change: M373K
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: M332K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127830 Gene: ENSMUSG00000020166 AA Change: M332K
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: ENSMUST00000167706
AA Change: M323K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128837 Gene: ENSMUSG00000020166 AA Change: M323K
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: M332K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132315 Gene: ENSMUSG00000020166 AA Change: M332K
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 |
possibly damaging
Transcript: ENSMUST00000169921
AA Change: M373K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132152 Gene: ENSMUSG00000020166 AA Change: M373K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
G |
A |
7: 12,249,412 (GRCm39) |
D82N |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,531,593 (GRCm39) |
K4607E |
probably damaging |
Het |
Agpat4 |
G |
C |
17: 12,417,669 (GRCm39) |
G70A |
probably damaging |
Het |
Ank2 |
G |
A |
3: 126,722,402 (GRCm39) |
T1017I |
possibly damaging |
Het |
C2cd2 |
T |
C |
16: 97,678,421 (GRCm39) |
I339V |
probably benign |
Het |
Cacna1a |
A |
T |
8: 85,296,644 (GRCm39) |
N1221Y |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
Ccdc74a |
T |
C |
16: 17,468,042 (GRCm39) |
S101P |
probably benign |
Het |
Cdh13 |
A |
T |
8: 119,968,968 (GRCm39) |
I442F |
probably damaging |
Het |
Coch |
C |
A |
12: 51,645,060 (GRCm39) |
H205N |
possibly damaging |
Het |
Col6a4 |
A |
G |
9: 105,957,560 (GRCm39) |
V88A |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,601 (GRCm39) |
T35A |
probably benign |
Het |
Gm28360 |
A |
T |
1: 117,781,328 (GRCm39) |
K106N |
possibly damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,256,657 (GRCm39) |
F1467L |
probably damaging |
Het |
Ighg2c |
T |
C |
12: 113,252,499 (GRCm39) |
T18A |
|
Het |
Iqcm |
A |
G |
8: 76,710,867 (GRCm39) |
K472E |
possibly damaging |
Het |
Kcnk5 |
A |
T |
14: 20,192,117 (GRCm39) |
V348D |
probably benign |
Het |
Kcns3 |
C |
T |
12: 11,169,801 (GRCm39) |
|
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Muc5ac |
A |
G |
7: 141,366,093 (GRCm39) |
D2787G |
possibly damaging |
Het |
Nasp |
A |
G |
4: 116,471,576 (GRCm39) |
C84R |
probably damaging |
Het |
Nfia |
G |
A |
4: 97,671,362 (GRCm39) |
R24H |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
Or2t48 |
T |
C |
11: 58,420,590 (GRCm39) |
D74G |
probably damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
Pdia4 |
A |
C |
6: 47,775,417 (GRCm39) |
S464R |
possibly damaging |
Het |
Rab3gap2 |
A |
G |
1: 185,009,360 (GRCm39) |
D1092G |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,730,764 (GRCm39) |
K2763E |
possibly damaging |
Het |
Sanbr |
A |
T |
11: 23,534,518 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
A |
T |
19: 40,315,018 (GRCm39) |
L598Q |
probably damaging |
Het |
Sppl2b |
A |
T |
10: 80,698,807 (GRCm39) |
M154L |
probably benign |
Het |
Stk33 |
A |
G |
7: 108,920,724 (GRCm39) |
I331T |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,933,035 (GRCm39) |
E494G |
probably benign |
Het |
Supt6 |
C |
T |
11: 78,112,052 (GRCm39) |
R1010Q |
possibly damaging |
Het |
Tada1 |
G |
A |
1: 166,210,005 (GRCm39) |
R69H |
probably damaging |
Het |
Tent4a |
A |
G |
13: 69,663,915 (GRCm39) |
L268P |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tomm34 |
A |
G |
2: 163,912,385 (GRCm39) |
|
probably null |
Het |
Tpi1 |
T |
C |
6: 124,788,871 (GRCm39) |
T223A |
probably damaging |
Het |
Trpc3 |
T |
A |
3: 36,709,279 (GRCm39) |
N399I |
probably benign |
Het |
Vgll2 |
A |
G |
10: 51,903,635 (GRCm39) |
H166R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,577,051 (GRCm39) |
I350F |
possibly damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,527,212 (GRCm39) |
K440M |
probably damaging |
Het |
Vmn2r55 |
T |
C |
7: 12,385,793 (GRCm39) |
Y729C |
possibly damaging |
Het |
Zfp106 |
G |
T |
2: 120,353,197 (GRCm39) |
A1554E |
probably damaging |
Het |
Zfyve27 |
A |
G |
19: 42,169,997 (GRCm39) |
Y176C |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,822,941 (GRCm39) |
N470K |
probably benign |
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 |
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 |
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'- CTACAAGTCTGAGGCTCTCTGTG -3'
(R):5'- AAGGGGATCCAGGTGTTACC -3'
Sequencing Primer
(F):5'- CTGTGGTGGCACAGGATAC -3'
(R):5'- TGGGACTCCATAAATATGTCAGAG -3'
|
Posted On |
2022-02-07 |