Incidental Mutation 'R7851:Cnot2'
| ID |
628695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot2
|
| Ensembl Gene |
ENSMUSG00000020166 |
| Gene Name |
CCR4-NOT transcription complex, subunit 2 |
| Synonyms |
2600016M12Rik, 2810470K03Rik |
| MMRRC Submission |
045904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.894)
|
| Stock # |
R7851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116373337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 22
(S22L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020374]
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000168036]
[ENSMUST00000169507]
[ENSMUST00000169576]
[ENSMUST00000169921]
[ENSMUST00000218490]
[ENSMUST00000218744]
|
| AlphaFold |
Q8C5L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020374
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
| 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 |
probably benign
Transcript: ENSMUST00000167706
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
| 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 |
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: ENSMUST00000169507
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169576
AA Change: S22L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169921
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
| 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: ENSMUST00000218490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218744
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,300,838 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
A |
T |
11: 94,250,486 (GRCm39) |
L905* |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,687 (GRCm39) |
D401A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,799,444 (GRCm39) |
K918E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,468,034 (GRCm39) |
N1722S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,498,409 (GRCm39) |
I481V |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,279 (GRCm39) |
I756T |
possibly damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
A |
G |
17: 43,135,363 (GRCm39) |
|
probably null |
Het |
| Cnn3 |
T |
A |
3: 121,250,992 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Coq6 |
A |
T |
12: 84,418,929 (GRCm39) |
H311L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,137 (GRCm39) |
N350S |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,600 (GRCm39) |
N253K |
probably benign |
Het |
| Dok7 |
T |
A |
5: 35,214,280 (GRCm39) |
M1K |
probably null |
Het |
| Eogt |
T |
A |
6: 97,097,162 (GRCm39) |
E313D |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,951 (GRCm39) |
S430P |
probably damaging |
Het |
| Gfod2 |
T |
A |
8: 106,454,762 (GRCm39) |
E39D |
probably benign |
Het |
| Gfral |
T |
C |
9: 76,112,737 (GRCm39) |
N65D |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,595 (GRCm39) |
L62* |
probably null |
Het |
| Gyg1 |
T |
G |
3: 20,176,911 (GRCm39) |
M360L |
probably benign |
Het |
| Hsp90ab1 |
A |
T |
17: 45,881,378 (GRCm39) |
S255T |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,734,497 (GRCm39) |
D143E |
probably benign |
Het |
| Ipp |
C |
T |
4: 116,372,672 (GRCm39) |
Q234* |
probably null |
Het |
| Ism1 |
A |
T |
2: 139,599,185 (GRCm39) |
D386V |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,354 (GRCm39) |
T436A |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,003,494 (GRCm39) |
I125S |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,190,508 (GRCm39) |
E1003V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,043,076 (GRCm39) |
I6785F |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,436,655 (GRCm39) |
T10I |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,827 (GRCm39) |
T284A |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,915 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,428 (GRCm39) |
Y123* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,789 (GRCm39) |
V333A |
probably benign |
Het |
| Or6c5c |
G |
T |
10: 129,299,429 (GRCm39) |
V295L |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,416,945 (GRCm39) |
T86S |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,264,236 (GRCm39) |
M168K |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,227,613 (GRCm39) |
L259P |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,855 (GRCm39) |
S1350G |
probably damaging |
Het |
| Prickle1 |
G |
A |
15: 93,398,440 (GRCm39) |
T796I |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,879,843 (GRCm39) |
I138M |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,732,482 (GRCm39) |
E958G |
probably benign |
Het |
| Rcn3 |
A |
T |
7: 44,736,236 (GRCm39) |
D157E |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,412,540 (GRCm39) |
S534P |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,862 (GRCm39) |
T3371A |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,446,828 (GRCm39) |
V1399D |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,489,147 (GRCm39) |
T185A |
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,894,954 (GRCm39) |
V607M |
probably damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,752 (GRCm39) |
Y581C |
probably damaging |
Het |
| Snx8 |
C |
A |
5: 140,343,914 (GRCm39) |
V101L |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,634,647 (GRCm39) |
K180M |
probably benign |
Het |
| Spire2 |
T |
A |
8: 124,083,438 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
A |
G |
11: 116,576,764 (GRCm39) |
S86P |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,609,852 (GRCm39) |
Q139* |
probably null |
Het |
| Tas2r114 |
T |
A |
6: 131,666,888 (GRCm39) |
I47F |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,747 (GRCm39) |
D19G |
probably benign |
Het |
| Terb2 |
T |
C |
2: 122,016,794 (GRCm39) |
F9L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,307 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,255 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,014 (GRCm39) |
F1001S |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,539 (GRCm39) |
T99I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,853,398 (GRCm39) |
T33S |
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 |
|
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'- ACATTTGCTACTCTGGGGATG -3'
(R):5'- CCAGGTAAGCCCTATCCTTG -3'
Sequencing Primer
(F):5'- CTACTCTGGGGATGGGAAAGCTC -3'
(R):5'- CCCTATCCTTGCATATTTTGGGAAAG -3'
|
| Posted On |
2020-06-10 |
Incidental Mutation