Mutagenetix > Incidental Mutation

Incidental Mutation 'R0615:Cnot2'

55026

Institutional Source

Beutler Lab

Gene Symbol

Cnot2

Ensembl Gene

ENSMUSG00000020166

Gene Name

CCR4-NOT transcription complex, subunit 2

Synonyms

2810470K03Rik, 2600016M12Rik

MMRRC Submission

038804-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R0615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116485161-116581511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116498236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

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: V258A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: V258A

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: V343A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: V343A

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

possibly damaging
Transcript: ENSMUST00000164088
AA Change: V302A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: V302A

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

possibly damaging
Transcript: ENSMUST00000167706
AA Change: V293A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: V293A

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

possibly damaging
Transcript: ENSMUST00000168036
AA Change: V302A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: V302A

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

possibly damaging
Transcript: ENSMUST00000169921
AA Change: V343A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: V343A

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

0.2149

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	C	A	11: 29,824,515	R314L	probably damaging	Het
4933411K16Rik	T	C	19: 42,052,523	I31T	possibly damaging	Het
Abca13	A	G	11: 9,256,197	I166V	probably damaging	Het
Acaa2	G	T	18: 74,798,446	V238L	probably benign	Het
Ahsg	A	T	16: 22,899,055	I296F	possibly damaging	Het
Aspm	T	A	1: 139,487,289	V1436D	probably damaging	Het
Ate1	A	T	7: 130,513,833		probably benign	Het
Atp1a4	A	T	1: 172,232,060		probably benign	Het
Aurkc	A	T	7: 7,002,403	I223L	possibly damaging	Het
Bckdha	G	T	7: 25,641,785	D50E	probably benign	Het
Brf2	C	T	8: 27,124,031	E376K	probably benign	Het
Cdk9	C	A	2: 32,709,801	L141F	possibly damaging	Het
Cgn	A	C	3: 94,770,714		probably benign	Het
Clcn1	G	A	6: 42,305,575	V526I	probably damaging	Het
Commd2	A	T	3: 57,646,695	V195D	possibly damaging	Het
Cubn	C	T	2: 13,360,252		probably null	Het
Eif2ak4	C	T	2: 118,436,185	T729M	probably damaging	Het
Elac1	A	T	18: 73,738,883	V347E	probably damaging	Het
Fam209	T	C	2: 172,474,133	S143P	probably benign	Het
Fam20c	G	A	5: 138,807,486	R454Q	probably damaging	Het
Fam214a	T	A	9: 75,004,288	Y14N	probably damaging	Het
Faxc	C	T	4: 21,958,608	S255L	probably benign	Het
Foxj1	T	C	11: 116,334,082	D153G	possibly damaging	Het
Gm6605	C	A	7: 38,448,275		noncoding transcript	Het
Lmo7	T	A	14: 101,876,859	Y12*	probably null	Het
Matn3	T	G	12: 8,963,594	C425W	probably damaging	Het
Mmd2	A	T	5: 142,564,913	M190K	probably benign	Het
Morn2	A	T	17: 80,295,597	T102S	probably damaging	Het
Nr3c2	A	C	8: 77,185,889	T710P	probably benign	Het
Nrros	C	A	16: 32,144,085	L343F	probably damaging	Het
Ntrk2	C	T	13: 59,128,186	Q767*	probably null	Het
Olfr1297	C	T	2: 111,621,919	D52N	possibly damaging	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Plekhf2	C	T	4: 10,991,330	R4H	probably benign	Het
Ppox	A	G	1: 171,277,814		probably benign	Het
Qprt	T	A	7: 127,109,076	D61V	probably damaging	Het
Reln	A	G	5: 22,010,150	V1101A	probably benign	Het
Sbno1	T	C	5: 124,410,139	N124D	probably damaging	Het
Scx	C	T	15: 76,458,095	P165L	probably benign	Het
Sema6d	T	C	2: 124,654,135		probably benign	Het
Serf2	T	C	2: 121,450,855	F92L	probably benign	Het
Synpo2	A	T	3: 123,117,287	N236K	probably damaging	Het
Tbc1d32	C	A	10: 56,224,640	D81Y	probably benign	Het
Terf2	G	A	8: 107,082,990	T232I	possibly damaging	Het
Tpd52l2	A	G	2: 181,501,951	E50G	probably damaging	Het
Tprn	A	G	2: 25,264,198	E504G	probably damaging	Het
Tufm	G	T	7: 126,487,482	R12L	probably benign	Het
Vmn2r8	A	G	5: 108,799,329	F519S	probably damaging	Het
Vwa8	T	C	14: 78,908,150	V89A	probably benign	Het
Wnt3	T	C	11: 103,812,381	I230T	possibly damaging	Het
Zan	A	T	5: 137,468,431	F388Y	probably damaging	Het
Zfp474	C	T	18: 52,638,349	L25F	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
R0497:Cnot2	UTSW	10	116498355	missense	probably damaging	1.00
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'- GTGGCACAGGATACAGGATAACACC -3'
(R):5'- GTACAGATGGACCCAAATTCCCTGG -3'

Sequencing Primer
(F):5'- CTGGGTTACTCTGTCTTCAAAAG -3'
(R):5'- CCAAATTCCCTGGAGATAAAAGTTC -3'

Posted On

2013-07-11