Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Cnot2'

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

Is this an essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

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	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966	279	probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	Het

Other mutations in Cnot2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Cnot2	APN	10	116507071	missense	probably benign	0.02
IGL02433:Cnot2	APN	10	116492336	missense	possibly damaging	0.82
IGL03066:Cnot2	APN	10	116499357	missense	probably benign	0.15
IGL03383:Cnot2	APN	10	116494817	splice site	probably benign
R0145:Cnot2	UTSW	10	116517368	missense	possibly damaging	0.90
R0615:Cnot2	UTSW	10	116498236	missense	possibly damaging	0.89
R1935:Cnot2	UTSW	10	116498415	missense	possibly damaging	0.62
R1985:Cnot2	UTSW	10	116527876	missense	probably damaging	0.99
R2148:Cnot2	UTSW	10	116506280	missense	probably benign	0.01
R4063:Cnot2	UTSW	10	116537396	missense	possibly damaging	0.46
R4179:Cnot2	UTSW	10	116498143	missense	possibly damaging	0.81
R4196:Cnot2	UTSW	10	116501304	missense	possibly damaging	0.62
R4523:Cnot2	UTSW	10	116581474	unclassified	probably benign
R4572:Cnot2	UTSW	10	116494846	missense	probably benign	0.37
R4610:Cnot2	UTSW	10	116499418	missense	probably damaging	1.00
R5219:Cnot2	UTSW	10	116506310	splice site	probably null
R5847:Cnot2	UTSW	10	116527946	missense	probably damaging	0.98
R6444:Cnot2	UTSW	10	116499355	missense	probably benign	0.02
R6733:Cnot2	UTSW	10	116498153	missense	possibly damaging	0.81
R6734:Cnot2	UTSW	10	116498153	missense	possibly damaging	0.81
R6735:Cnot2	UTSW	10	116498153	missense	possibly damaging	0.81
R6944:Cnot2	UTSW	10	116537223	intron	probably benign
R7139:Cnot2	UTSW	10	116495019	missense	probably benign	0.00
R7248:Cnot2	UTSW	10	116498373	missense	probably benign	0.05
R7423:Cnot2	UTSW	10	116492398	missense	probably damaging	1.00
R7526:Cnot2	UTSW	10	116507080	missense	probably benign	0.12
R7851:Cnot2	UTSW	10	116537432	missense	possibly damaging	0.66
R8245:Cnot2	UTSW	10	116510389	missense	probably benign	0.07
R8350:Cnot2	UTSW	10	116486276	missense	probably damaging	1.00
R8463:Cnot2	UTSW	10	116517331	missense	probably benign	0.11
R9045:Cnot2	UTSW	10	116486255	missense	probably benign	0.05
R9175:Cnot2	UTSW	10	116498146	missense	possibly damaging	0.94
R9229:Cnot2	UTSW	10	116549055	nonsense	probably null
R9343:Cnot2	UTSW	10	116510421	missense
R9508:Cnot2	UTSW	10	116493711	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