Incidental Mutation 'IGL00790:Cnot2'
ID 9756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnot2
Ensembl Gene ENSMUSG00000020166
Gene Name CCR4-NOT transcription complex, subunit 2
Synonyms 2600016M12Rik, 2810470K03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.894) question?
Stock # IGL00790
Quality Score
Status
Chromosome 10
Chromosomal Location 116321066-116417416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116342976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 119 (M119T)
Ref Sequence ENSEMBL: ENSMUSP00000132152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020374] [ENSMUST00000105265] [ENSMUST00000105267] [ENSMUST00000164088] [ENSMUST00000167706] [ENSMUST00000169921] [ENSMUST00000168036] [ENSMUST00000169576] [ENSMUST00000169507] [ENSMUST00000218490]
AlphaFold Q8C5L3
Predicted Effect probably benign
Transcript: ENSMUST00000020374
Predicted Effect probably benign
Transcript: ENSMUST00000105265
AA Change: M34T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: M34T

DomainStartEndE-ValueType
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: M119T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: M119T

DomainStartEndE-ValueType
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
AA Change: M78T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: M78T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000167706
AA Change: M119T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: M119T

DomainStartEndE-ValueType
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: ENSMUST00000169921
AA Change: M119T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: M119T

DomainStartEndE-ValueType
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: ENSMUST00000168036
AA Change: M78T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: M78T

DomainStartEndE-ValueType
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: ENSMUST00000169937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171944
Predicted Effect probably benign
Transcript: ENSMUST00000169576
Predicted Effect probably benign
Transcript: ENSMUST00000169507
Predicted Effect probably benign
Transcript: ENSMUST00000218490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220305
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,291,175 (GRCm39) N1419K probably benign Het
Arhgef18 A G 8: 3,479,553 (GRCm39) E79G probably damaging Het
Art4 T A 6: 136,831,493 (GRCm39) Q216L probably damaging Het
Bbs4 T C 9: 59,231,348 (GRCm39) D407G probably benign Het
Cherp A G 8: 73,222,090 (GRCm39) I277T probably damaging Het
Disp2 T A 2: 118,616,759 (GRCm39) C73S probably damaging Het
Dock4 T C 12: 40,884,390 (GRCm39) S1686P probably damaging Het
Dsc1 C T 18: 20,227,953 (GRCm39) G468S probably damaging Het
Duox2 T A 2: 122,122,781 (GRCm39) D551V possibly damaging Het
Gmip T A 8: 70,269,661 (GRCm39) Y585* probably null Het
Gnal A G 18: 67,267,360 (GRCm39) probably null Het
Idh1 T G 1: 65,205,281 (GRCm39) Q228P possibly damaging Het
Igsf10 A T 3: 59,226,938 (GRCm39) I2245N probably damaging Het
Mrgpra4 A T 7: 47,631,052 (GRCm39) M183K possibly damaging Het
Npr2 T A 4: 43,641,612 (GRCm39) V472D possibly damaging Het
Pcdh7 A T 5: 57,878,806 (GRCm39) N787I probably damaging Het
Phf8-ps A G 17: 33,286,361 (GRCm39) V147A probably damaging Het
Ppp1r10 A T 17: 36,235,751 (GRCm39) N111I probably damaging Het
Ppp3ca A G 3: 136,640,942 (GRCm39) N508D probably benign Het
Rgs17 A G 10: 5,862,624 (GRCm38) Q25P possibly damaging Het
Slco6d1 T A 1: 98,348,925 (GRCm39) probably benign Het
Tab3 T A X: 84,665,210 (GRCm39) N591K probably damaging Het
Tfcp2 T C 15: 100,411,059 (GRCm39) probably benign Het
Them5 A T 3: 94,250,716 (GRCm39) D93V probably damaging Het
Thoc5 T G 11: 4,868,147 (GRCm39) V275G probably damaging Het
Trmt1l T C 1: 151,318,463 (GRCm39) probably null Het
Zdbf2 G T 1: 63,345,673 (GRCm39) V1351F possibly damaging Het
Zfp14 G T 7: 29,738,312 (GRCm39) Y224* probably null Het
Zfp606 T G 7: 12,228,159 (GRCm39) M702R probably damaging Het
Other mutations in Cnot2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06