Incidental Mutation 'R5219:Cnot2'
| ID |
402233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot2
|
| Ensembl Gene |
ENSMUSG00000020166 |
| Gene Name |
CCR4-NOT transcription complex, subunit 2 |
| Synonyms |
2600016M12Rik, 2810470K03Rik |
| MMRRC Submission |
042792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.894)
|
| Stock # |
R5219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3481 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 116342215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020374]
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000168036]
[ENSMUST00000169921]
[ENSMUST00000169576]
[ENSMUST00000218490]
[ENSMUST00000169507]
|
| AlphaFold |
Q8C5L3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020374
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105265
AA Change: L78S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: L78S
| 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 damaging
Transcript: ENSMUST00000105267
AA Change: L163S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: L163S
| 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: L122S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: L122S
| 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 |
possibly damaging
Transcript: ENSMUST00000167706
AA Change: L163S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: L163S
| 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: L122S
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: L122S
| 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 damaging
Transcript: ENSMUST00000169921
AA Change: L163S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: L163S
| 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: ENSMUST00000171944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169507
|
| Meta Mutation Damage Score |
0.1328 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700063H04Rik |
A |
G |
6: 122,369,299 (GRCm39) |
|
noncoding transcript |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| A2m |
A |
G |
6: 121,653,909 (GRCm39) |
H1414R |
possibly damaging |
Het |
| A530064D06Rik |
G |
T |
17: 48,470,518 (GRCm39) |
D154E |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,104,461 (GRCm39) |
D395N |
probably benign |
Het |
| Agl |
A |
G |
3: 116,572,370 (GRCm39) |
V195A |
possibly damaging |
Het |
| Aip |
T |
C |
19: 4,165,180 (GRCm39) |
I230V |
probably benign |
Het |
| Akap10 |
A |
C |
11: 61,813,617 (GRCm39) |
S43A |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,545,651 (GRCm39) |
E1026G |
probably benign |
Het |
| Arid5b |
T |
A |
10: 68,113,940 (GRCm39) |
K32N |
probably benign |
Het |
| Atp6v0a2 |
C |
A |
5: 124,790,249 (GRCm39) |
N477K |
probably damaging |
Het |
| Atr |
A |
C |
9: 95,763,291 (GRCm39) |
I1062L |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,743,278 (GRCm39) |
V171A |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,526,366 (GRCm39) |
L391H |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,490,675 (GRCm39) |
L715P |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,314 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,919,627 (GRCm39) |
A585T |
probably benign |
Het |
| Elapor2 |
G |
T |
5: 9,511,486 (GRCm39) |
W949C |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,803,510 (GRCm39) |
A1705T |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,412,110 (GRCm39) |
V252D |
probably damaging |
Het |
| Gm11677 |
A |
G |
11: 111,616,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
A |
G |
7: 4,371,998 (GRCm39) |
V252A |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,610,785 (GRCm39) |
V176A |
probably benign |
Het |
| Irx2 |
G |
C |
13: 72,779,420 (GRCm39) |
A235P |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,367,785 (GRCm39) |
V431E |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,387 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,026,746 (GRCm39) |
W500R |
probably benign |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,668,711 (GRCm39) |
I127M |
probably benign |
Het |
| Nxph1 |
T |
A |
6: 9,247,765 (GRCm39) |
Y245* |
probably null |
Het |
| Or4a73 |
C |
T |
2: 89,421,046 (GRCm39) |
V138I |
probably benign |
Het |
| Or7s1a-ps1 |
T |
C |
9: 18,843,990 (GRCm39) |
|
probably benign |
Het |
| Or8g34 |
G |
T |
9: 39,373,563 (GRCm39) |
V276L |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,793 (GRCm39) |
T69S |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,966 (GRCm39) |
F71S |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,262 (GRCm39) |
Y404* |
probably null |
Het |
| Pde2a |
A |
C |
7: 101,153,811 (GRCm39) |
I460L |
probably damaging |
Het |
| Ppp3cb |
G |
T |
14: 20,578,263 (GRCm39) |
C162* |
probably null |
Het |
| Prickle2 |
T |
C |
6: 92,353,511 (GRCm39) |
S652G |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,309 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,821,813 (GRCm39) |
|
probably benign |
Het |
| Rgp1 |
C |
T |
4: 43,579,440 (GRCm39) |
A16V |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,365,489 (GRCm39) |
Y514N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,896,501 (GRCm39) |
D134G |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,529,111 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
T |
6: 114,287,182 (GRCm39) |
M388L |
probably benign |
Het |
| Ssbp3 |
A |
T |
4: 106,904,655 (GRCm39) |
N350I |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
A |
T |
5: 87,726,445 (GRCm39) |
I223N |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,740,582 (GRCm39) |
G290C |
probably damaging |
Het |
| Tekt2 |
G |
T |
4: 126,216,057 (GRCm39) |
T412K |
possibly damaging |
Het |
| Trabd2b |
A |
G |
4: 114,460,007 (GRCm39) |
T382A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,204,543 (GRCm39) |
Y4818* |
probably null |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,069 (GRCm39) |
R233S |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,382 (GRCm39) |
Y165H |
probably damaging |
Het |
| Yaf2 |
A |
C |
15: 93,183,355 (GRCm39) |
C152G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,703 (GRCm39) |
F751I |
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 |
|
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 |
|
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'- TATGAGACAGAAGCCACAGC -3'
(R):5'- CCAGTAGTTCTCTTTTATGATGGCAC -3'
Sequencing Primer
(F):5'- GCTCAAAAACAAAGCGTTGC -3'
(R):5'- CCACTATAAAGTTAGGAATACAGCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation