Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Cnot2'

29622

Institutional Source

Beutler Lab

Gene Symbol

Cnot2

Ensembl Gene

ENSMUSG00000020166

Gene Name

CCR4-NOT transcription complex, subunit 2

Synonyms

2600016M12Rik, 2810470K03Rik

MMRRC Submission

038430-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R0145 (G1) of strain 722

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

116321066-116417416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116353273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 63 (S63T)

Ref Sequence

ENSEMBL: ENSMUSP00000151501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020374] [ENSMUST00000105265] [ENSMUST00000105267] [ENSMUST00000164088] [ENSMUST00000169921] [ENSMUST00000167706] [ENSMUST00000168036] [ENSMUST00000218744] [ENSMUST00000218490] [ENSMUST00000169507] [ENSMUST00000169576]

AlphaFold

Q8C5L3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020374
AA Change: S63T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

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

possibly damaging
Transcript: ENSMUST00000105267
AA Change: S63T

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: S63T

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
AA Change: S22T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: S22T

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: ENSMUST00000165527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169921
AA Change: S63T

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: S63T

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: ENSMUST00000167706
AA Change: S63T

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: S63T

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
AA Change: S22T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: S22T

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: ENSMUST00000167644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169937

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218744
AA Change: S63T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000218490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219210

Predicted Effect

probably benign
Transcript: ENSMUST00000169507

Predicted Effect

probably benign
Transcript: ENSMUST00000169576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220305

Meta Mutation Damage Score

0.0744

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCTATTTCACAAACTGCTGCCAAACT -3'
(R):5'- GAGAAACTCTGTGCATCAGATGACACAT -3'

Sequencing Primer
(F):5'- GCTGCCAAACTATGGGCTTAC -3'
(R):5'- AAACAAGGACTTGGGTTGGG -3'

Posted On

2013-04-18