Incidental Mutation 'R9175:Cnot2'
ID 696631
Institutional Source Beutler Lab
Gene Symbol Cnot2
Ensembl Gene ENSMUSG00000020166
Gene Name CCR4-NOT transcription complex, subunit 2
Synonyms 2600016M12Rik, 2810470K03Rik
MMRRC Submission 068948-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.894) question?
Stock # R9175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 116321066-116417416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116334051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 373 (M373K)
Ref Sequence ENSEMBL: ENSMUSP00000100902 (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: M288K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: M288K

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 possibly damaging
Transcript: ENSMUST00000105267
AA Change: M373K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: M373K

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 possibly damaging
Transcript: ENSMUST00000164088
AA Change: M332K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: M332K

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 possibly damaging
Transcript: ENSMUST00000167706
AA Change: M323K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: M323K

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 possibly damaging
Transcript: ENSMUST00000168036
AA Change: M332K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: M332K

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: ENSMUST00000169576
Predicted Effect possibly damaging
Transcript: ENSMUST00000169921
AA Change: M373K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: M373K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,249,412 (GRCm39) D82N probably benign Het
Abca13 A G 11: 9,531,593 (GRCm39) K4607E probably damaging Het
Agpat4 G C 17: 12,417,669 (GRCm39) G70A probably damaging Het
Ank2 G A 3: 126,722,402 (GRCm39) T1017I possibly damaging Het
C2cd2 T C 16: 97,678,421 (GRCm39) I339V probably benign Het
Cacna1a A T 8: 85,296,644 (GRCm39) N1221Y probably damaging Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Ccdc74a T C 16: 17,468,042 (GRCm39) S101P probably benign Het
Cdh13 A T 8: 119,968,968 (GRCm39) I442F probably damaging Het
Coch C A 12: 51,645,060 (GRCm39) H205N possibly damaging Het
Col6a4 A G 9: 105,957,560 (GRCm39) V88A probably benign Het
Erich3 A G 3: 154,419,601 (GRCm39) T35A probably benign Het
Gm28360 A T 1: 117,781,328 (GRCm39) K106N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hspg2 T C 4: 137,256,657 (GRCm39) F1467L probably damaging Het
Ighg2c T C 12: 113,252,499 (GRCm39) T18A Het
Iqcm A G 8: 76,710,867 (GRCm39) K472E possibly damaging Het
Kcnk5 A T 14: 20,192,117 (GRCm39) V348D probably benign Het
Kcns3 C T 12: 11,169,801 (GRCm39) probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Muc5ac A G 7: 141,366,093 (GRCm39) D2787G possibly damaging Het
Nasp A G 4: 116,471,576 (GRCm39) C84R probably damaging Het
Nfia G A 4: 97,671,362 (GRCm39) R24H probably damaging Het
Opa3 C T 7: 18,989,466 (GRCm39) R110C probably damaging Het
Or2t48 T C 11: 58,420,590 (GRCm39) D74G probably damaging Het
Or8k25 A G 2: 86,244,099 (GRCm39) I99T probably benign Het
Pdia4 A C 6: 47,775,417 (GRCm39) S464R possibly damaging Het
Rab3gap2 A G 1: 185,009,360 (GRCm39) D1092G probably damaging Het
Rev3l A G 10: 39,730,764 (GRCm39) K2763E possibly damaging Het
Sanbr A T 11: 23,534,518 (GRCm39) probably null Het
Sorbs1 A T 19: 40,315,018 (GRCm39) L598Q probably damaging Het
Sppl2b A T 10: 80,698,807 (GRCm39) M154L probably benign Het
Stk33 A G 7: 108,920,724 (GRCm39) I331T probably damaging Het
Strip2 A G 6: 29,933,035 (GRCm39) E494G probably benign Het
Supt6 C T 11: 78,112,052 (GRCm39) R1010Q possibly damaging Het
Tada1 G A 1: 166,210,005 (GRCm39) R69H probably damaging Het
Tent4a A G 13: 69,663,915 (GRCm39) L268P probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tomm34 A G 2: 163,912,385 (GRCm39) probably null Het
Tpi1 T C 6: 124,788,871 (GRCm39) T223A probably damaging Het
Trpc3 T A 3: 36,709,279 (GRCm39) N399I probably benign Het
Vgll2 A G 10: 51,903,635 (GRCm39) H166R probably damaging Het
Vmn2r107 A T 17: 20,577,051 (GRCm39) I350F possibly damaging Het
Vmn2r114 T A 17: 23,527,212 (GRCm39) K440M probably damaging Het
Vmn2r55 T C 7: 12,385,793 (GRCm39) Y729C possibly damaging Het
Zfp106 G T 2: 120,353,197 (GRCm39) A1554E probably damaging Het
Zfyve27 A G 19: 42,169,997 (GRCm39) Y176C probably damaging Het
Zswim5 T A 4: 116,822,941 (GRCm39) N470K 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
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
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'- CTACAAGTCTGAGGCTCTCTGTG -3'
(R):5'- AAGGGGATCCAGGTGTTACC -3'

Sequencing Primer
(F):5'- CTGTGGTGGCACAGGATAC -3'
(R):5'- TGGGACTCCATAAATATGTCAGAG -3'
Posted On 2022-02-07