Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03066:Cnot2'

409705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnot2

Ensembl Gene

ENSMUSG00000020166

Gene Name

CCR4-NOT transcription complex, subunit 2

Synonyms

2810470K03Rik, 2600016M12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

IGL03066

Quality Score

Status

Chromosome

Chromosomal Location

116485161-116581511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116499357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 245 (N245K)

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: N210K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: N210K

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 benign
Transcript: ENSMUST00000105267
AA Change: N295K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: N295K

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: N254K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: N254K

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 benign
Transcript: ENSMUST00000167706
AA Change: N245K

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: N245K

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: N254K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: N254K

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: ENSMUST00000169507

Predicted Effect

probably benign
Transcript: ENSMUST00000169576

Predicted Effect

probably benign
Transcript: ENSMUST00000169921
AA Change: N295K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: N295K

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

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	A	C	17: 32,199,088		probably benign	Het
Cd209d	C	A	8: 3,878,437		probably null	Het
Cela2a	T	A	4: 141,821,454	I124F	probably damaging	Het
Cpt2	A	G	4: 107,907,986	F148L	probably benign	Het
Ctsj	A	C	13: 61,004,488	H21Q	possibly damaging	Het
Cul4a	A	G	8: 13,133,776	N388S	probably benign	Het
Dnah12	A	G	14: 26,697,398	D147G	probably benign	Het
Dnhd1	A	G	7: 105,719,882	T4287A	probably damaging	Het
Dock10	C	A	1: 80,585,041	C534F	probably benign	Het
Efcab14	A	G	4: 115,738,804	E49G	probably benign	Het
Fancm	G	T	12: 65,125,114	E86*	probably null	Het
Galnt17	A	T	5: 130,900,648	S440R	probably benign	Het
Hectd4	T	A	5: 121,365,053	Y4362N	possibly damaging	Het
Lctl	T	G	9: 64,117,735	M1R	probably null	Het
Llgl1	A	G	11: 60,706,034	T154A	possibly damaging	Het
Mink1	G	T	11: 70,608,889	V750F	probably benign	Het
Mroh7	A	G	4: 106,692,398	V950A	possibly damaging	Het
Myg1	G	A	15: 102,334,366		probably benign	Het
Olfr1265	A	T	2: 90,037,434	I172F	probably damaging	Het
Olfr1415	T	A	1: 92,491,583	R57S	probably damaging	Het
Olfr77	A	G	9: 19,920,371	H54R	probably benign	Het
Pask	A	T	1: 93,330,866	S253R	probably benign	Het
Pkd1	C	A	17: 24,586,234	H3253Q	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Rapgef4	A	G	2: 72,141,179		probably benign	Het
Rnf169	G	T	7: 99,925,553	R612S	possibly damaging	Het
Sclt1	A	T	3: 41,717,843	D104E	probably benign	Het
Shh	G	T	5: 28,461,371	D172E	probably damaging	Het
Sil1	G	T	18: 35,269,206		probably benign	Het
Slc19a3	A	G	1: 83,014,836	I388T	probably damaging	Het
Spink5	A	G	18: 44,016,390	Y946C	probably damaging	Het
Sulf1	A	T	1: 12,807,944	I219F	probably damaging	Het
Tcf3	T	C	10: 80,413,045	D529G	probably damaging	Het
Tmem2	G	A	19: 21,823,843	D775N	possibly damaging	Het
Txnip	G	A	3: 96,559,618	E203K	probably damaging	Het
Ubc	G	T	5: 125,388,263		probably benign	Het
Ubxn4	A	T	1: 128,260,854		probably null	Het
Usp16	T	C	16: 87,471,833	V284A	probably damaging	Het
Vmn2r6	T	A	3: 64,565,153	N49I	probably damaging	Het
Ythdf1	A	T	2: 180,911,546	I292N	probably damaging	Het
Zfp128	A	G	7: 12,890,117	I137M	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
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
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

Posted On

2016-08-02