Incidental Mutation 'R0497:Cnot2'
| ID |
40546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot2
|
| Ensembl Gene |
ENSMUSG00000020166 |
| Gene Name |
CCR4-NOT transcription complex, subunit 2 |
| Synonyms |
2810470K03Rik, 2600016M12Rik |
| MMRRC Submission |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116485161-116581511 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116498355 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 335
(I335N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132152
(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: I250N
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: I250N
| 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: I335N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: I335N
| 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 damaging
Transcript: ENSMUST00000164088
AA Change: I294N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: I294N
| 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 |
probably damaging
Transcript: ENSMUST00000167706
AA Change: I285N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: I285N
| 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 damaging
Transcript: ENSMUST00000168036
AA Change: I294N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: I294N
| 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: ENSMUST00000169921
AA Change: I335N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: I335N
| 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: ENSMUST00000169937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219544
|
| Meta Mutation Damage Score |
0.7571 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530053A07Rik |
T |
A |
7: 28,147,465 (GRCm38) |
C1158S |
probably damaging |
Het |
| Aatk |
A |
C |
11: 120,018,780 (GRCm38) |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,597,725 (GRCm38) |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,629,121 (GRCm38) |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,930,209 (GRCm38) |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,790,618 (GRCm38) |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,452,163 (GRCm38) |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,054,631 (GRCm38) |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,640,549 (GRCm38) |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,114,360 (GRCm38) |
R47Q |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,012,093 (GRCm38) |
V972A |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,511,881 (GRCm38) |
L300H |
probably damaging |
Het |
| Chmp3 |
T |
C |
6: 71,552,411 (GRCm38) |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,571,782 (GRCm38) |
N79S |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 112,570,151 (GRCm38) |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 105,675,040 (GRCm38) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,039,986 (GRCm38) |
|
probably benign |
Het |
| Dirc2 |
A |
T |
16: 35,735,604 (GRCm38) |
V162D |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,856,640 (GRCm38) |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,181,586 (GRCm38) |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,135,233 (GRCm38) |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,096,119 (GRCm38) |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,283,402 (GRCm38) |
T2162S |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,470,387 (GRCm38) |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,532,167 (GRCm38) |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,623,510 (GRCm38) |
N49Y |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,224,159 (GRCm38) |
V974E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 181,229,656 (GRCm38) |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,956,966 (GRCm38) |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,802,230 (GRCm38) |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,282,874 (GRCm38) |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,272,892 (GRCm38) |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,276,983 (GRCm38) |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,892,100 (GRCm38) |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,664,892 (GRCm38) |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 111,327,873 (GRCm38) |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 101,101,294 (GRCm38) |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,806,343 (GRCm38) |
W1090L |
probably damaging |
Het |
| Olfr1281 |
A |
G |
2: 111,328,830 (GRCm38) |
D137G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,328,231 (GRCm38) |
|
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,341,315 (GRCm38) |
L652P |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,440,008 (GRCm38) |
|
probably null |
Het |
| Prdm15 |
G |
A |
16: 97,794,334 (GRCm38) |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 16,954,953 (GRCm38) |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,549,608 (GRCm38) |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,792,249 (GRCm38) |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,584,967 (GRCm38) |
M255R |
probably damaging |
Het |
| Smg8 |
C |
T |
11: 87,086,084 (GRCm38) |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,718,058 (GRCm38) |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,573,804 (GRCm38) |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 67,025,922 (GRCm38) |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,864,351 (GRCm38) |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,380,884 (GRCm38) |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,281,039 (GRCm38) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,613,254 (GRCm38) |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 80,984,424 (GRCm38) |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,846,806 (GRCm38) |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,805,948 (GRCm38) |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,634,026 (GRCm38) |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,375,132 (GRCm38) |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,889 (GRCm38) |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,412,676 (GRCm38) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 74,083,480 (GRCm38) |
V192L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,638,333 (GRCm38) |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,584,650 (GRCm38) |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,779,994 (GRCm38) |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 167,055,411 (GRCm38) |
Q531L |
probably benign |
Het |
|
| Other mutations in Cnot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Cnot2
|
APN |
10 |
116,507,071 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02433:Cnot2
|
APN |
10 |
116,492,336 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL03066:Cnot2
|
APN |
10 |
116,499,357 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL03383:Cnot2
|
APN |
10 |
116,494,817 (GRCm38) |
splice site |
probably benign |
|
|
R0145:Cnot2
|
UTSW |
10 |
116,517,368 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0615:Cnot2
|
UTSW |
10 |
116,498,236 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1935:Cnot2
|
UTSW |
10 |
116,498,415 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1985:Cnot2
|
UTSW |
10 |
116,527,876 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2148:Cnot2
|
UTSW |
10 |
116,506,280 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4063:Cnot2
|
UTSW |
10 |
116,537,396 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4179:Cnot2
|
UTSW |
10 |
116,498,143 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4196:Cnot2
|
UTSW |
10 |
116,501,304 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4523:Cnot2
|
UTSW |
10 |
116,581,474 (GRCm38) |
unclassified |
probably benign |
|
|
R4572:Cnot2
|
UTSW |
10 |
116,494,846 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4610:Cnot2
|
UTSW |
10 |
116,499,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5219:Cnot2
|
UTSW |
10 |
116,506,310 (GRCm38) |
splice site |
probably null |
|
|
R5847:Cnot2
|
UTSW |
10 |
116,527,946 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6444:Cnot2
|
UTSW |
10 |
116,499,355 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6733:Cnot2
|
UTSW |
10 |
116,498,153 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6734:Cnot2
|
UTSW |
10 |
116,498,153 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6735:Cnot2
|
UTSW |
10 |
116,498,153 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6944:Cnot2
|
UTSW |
10 |
116,537,223 (GRCm38) |
intron |
probably benign |
|
|
R7139:Cnot2
|
UTSW |
10 |
116,495,019 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7248:Cnot2
|
UTSW |
10 |
116,498,373 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7423:Cnot2
|
UTSW |
10 |
116,492,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7526:Cnot2
|
UTSW |
10 |
116,507,080 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7851:Cnot2
|
UTSW |
10 |
116,537,432 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8245:Cnot2
|
UTSW |
10 |
116,510,389 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8350:Cnot2
|
UTSW |
10 |
116,486,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8463:Cnot2
|
UTSW |
10 |
116,517,331 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9045:Cnot2
|
UTSW |
10 |
116,486,255 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9175:Cnot2
|
UTSW |
10 |
116,498,146 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9229:Cnot2
|
UTSW |
10 |
116,549,055 (GRCm38) |
nonsense |
probably null |
|
|
R9343:Cnot2
|
UTSW |
10 |
116,510,421 (GRCm38) |
missense |
|
|
|
R9508:Cnot2
|
UTSW |
10 |
116,493,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATCATTCCAAATTGGTCCGTC -3'
(R):5'- CCTTCCAACATTCATGGCAGAGAGC -3'
Sequencing Primer
(F):5'- CAAATTGGTCCGTCACCATC -3'
(R):5'- ATGGACCCAAATTCCCTGGA -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation