Incidental Mutation 'R6444:Cnot2'
ID 519135
Institutional Source Beutler Lab
Gene Symbol Cnot2
Ensembl Gene ENSMUSG00000020166
Gene Name CCR4-NOT transcription complex, subunit 2
Synonyms 2600016M12Rik, 2810470K03Rik
MMRRC Submission 044582-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.894) question?
Stock # R6444 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 116321066-116417416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116335260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 246 (D246G)
Ref Sequence ENSEMBL: ENSMUSP00000128837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105265] [ENSMUST00000105267] [ENSMUST00000164088] [ENSMUST00000167706] [ENSMUST00000168036] [ENSMUST00000169507] [ENSMUST00000169576] [ENSMUST00000169921]
AlphaFold Q8C5L3
Predicted Effect probably benign
Transcript: ENSMUST00000105265
AA Change: D211G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: D211G

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: D296G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: D296G

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: D255G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: D255G

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: ENSMUST00000166166
Predicted Effect probably benign
Transcript: ENSMUST00000167706
AA Change: D246G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: D246G

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: ENSMUST00000168036
AA Change: D255G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: D255G

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 probably benign
Transcript: ENSMUST00000169507
Predicted Effect probably benign
Transcript: ENSMUST00000169576
Predicted Effect probably benign
Transcript: ENSMUST00000169921
AA Change: D296G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: D296G

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 noncoding transcript
Transcript: ENSMUST00000219544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171214
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik ACAGAGCAGTGCCTACCAG ACAG 5: 138,637,831 (GRCm39) probably benign Het
Bcas2 T A 3: 103,079,362 (GRCm39) probably null Het
Camk1d A T 2: 5,317,956 (GRCm39) I233N probably damaging Het
Chd2 T C 7: 73,150,785 (GRCm39) probably null Het
Cped1 A C 6: 21,986,930 (GRCm39) I41L probably benign Het
Dcdc2c A G 12: 28,585,475 (GRCm39) V174A probably damaging Het
Dscam G A 16: 96,420,844 (GRCm39) R1681C probably damaging Het
Dysf G A 6: 84,167,822 (GRCm39) V1755M probably benign Het
Eif5b G A 1: 38,075,292 (GRCm39) D590N probably damaging Het
Fntb A G 12: 76,963,214 (GRCm39) Y399C probably damaging Het
Galns T C 8: 123,338,077 (GRCm39) M1V probably null Het
Galnt15 T C 14: 31,762,368 (GRCm39) F199L probably damaging Het
Gm8229 A T 14: 44,602,928 (GRCm39) H38L unknown Het
Magel2 T C 7: 62,029,747 (GRCm39) Y884H unknown Het
Miga1 A T 3: 151,989,468 (GRCm39) V473E probably damaging Het
Mrgprx1 C T 7: 47,671,562 (GRCm39) V62I possibly damaging Het
Mybl1 G A 1: 9,755,917 (GRCm39) P211S possibly damaging Het
Myo19 A G 11: 84,786,134 (GRCm39) H254R probably benign Het
Myo1h A G 5: 114,453,017 (GRCm39) T6A possibly damaging Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Or5b119 A T 19: 13,456,794 (GRCm39) M256K possibly damaging Het
Or8g20 T C 9: 39,395,614 (GRCm39) T309A probably benign Het
Psmd12 A G 11: 107,377,280 (GRCm39) E113G possibly damaging Het
Ptpn3 T C 4: 57,195,730 (GRCm39) D879G possibly damaging Het
Rufy3 A G 5: 88,785,166 (GRCm39) Q414R probably damaging Het
Slc14a2 A G 18: 78,197,317 (GRCm39) I813T probably damaging Het
Smok2a G T 17: 13,444,500 (GRCm39) A26S probably benign Het
Spsb3 T A 17: 25,110,550 (GRCm39) L459Q probably damaging Het
Tacc2 T C 7: 130,225,142 (GRCm39) V609A possibly damaging Het
Tmem185b C A 1: 119,454,365 (GRCm39) A42E probably damaging Het
Trim56 A G 5: 137,141,470 (GRCm39) V682A probably damaging Het
Trim75 T C 8: 65,435,488 (GRCm39) K321E possibly damaging Het
Ttc17 A C 2: 94,133,891 (GRCm39) M1098R possibly damaging Het
Ydjc C A 16: 16,965,545 (GRCm39) H136Q probably damaging Het
Zfp568 A T 7: 29,716,682 (GRCm39) H193L probably benign Het
Znhit1 A G 5: 137,011,254 (GRCm39) V153A probably benign Het
Other mutations in Cnot2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGACAGGGACTACAATAAAAGTC -3'
(R):5'- TTGAGTTGCCAGTTCACATGC -3'

Sequencing Primer
(F):5'- CTCACAAGTTCAACAGAAATTTGC -3'
(R):5'- AAAGCTTTTGGTATATTGTGATGAGC -3'
Posted On 2018-05-24