Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Cnot2'

553283

Institutional Source

Beutler Lab

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 #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116485161-116581511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116495019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 394 (N394S)

Ref Sequence

ENSEMBL: ENSMUSP00000100902 (fasta)

Gene Model

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

AlphaFold

Q8C5L3

Predicted Effect

probably benign
Transcript: ENSMUST00000105265
AA Change: N309S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: N309S

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: N394S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: N394S

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: N353S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: N353S

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: ENSMUST00000167706
AA Change: N344S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: N344S

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: N353S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: N353S

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 benign
Transcript: ENSMUST00000169921
AA Change: N394S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: N394S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,941,838	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,590,078	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,850,184	M480L	probably benign	Het
Abcd4	A	G	12: 84,606,298	C377R	probably benign	Het
Adam23	C	A	1: 63,545,577	D381E	probably damaging	Het
Angpt1	T	A	15: 42,676,351	Q37H	probably damaging	Het
Apeh	A	T	9: 108,092,146	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,889	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,666,721	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,415,359	S46G	unknown	Het
Cfc1	T	C	1: 34,536,479	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,755,302	V196E	possibly damaging	Het
Cma1	T	C	14: 55,943,816	H44R	probably damaging	Het
Cstf3	A	T	2: 104,653,064	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 107,071,011	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,613,976	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,617,427	N36S	probably benign	Het
Dnah6	A	G	6: 73,135,680	V1647A	probably damaging	Het
Dock6	T	C	9: 21,801,276	Y2063C	probably damaging	Het
Dst	T	A	1: 34,299,807	D5149E	probably damaging	Het
Fancl	A	G	11: 26,403,358	M85V	probably benign	Het
Fgd2	T	A	17: 29,373,255	F387Y	probably damaging	Het
Fshr	A	T	17: 88,986,161	I363N	possibly damaging	Het
Glce	G	T	9: 62,070,434	S56*	probably null	Het
Gm26727	A	T	2: 67,433,037	S49T	unknown	Het
Gm36210	T	A	7: 4,899,278	D131V	probably damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
H2afy2	T	A	10: 61,757,895	M1L	unknown	Het
H2-Eb2	C	T	17: 34,334,421	R194W	probably benign	Het
Hivep1	A	T	13: 42,159,954	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,158,821	C5*	probably null	Het
Ighv2-5	T	A	12: 113,685,599	Y78F	probably benign	Het
Il9	C	T	13: 56,480,613	V88I	probably benign	Het
Kidins220	A	G	12: 24,994,821	T163A	probably damaging	Het
Lama4	G	T	10: 39,075,495	D1079Y	probably damaging	Het
Lman1l	A	T	9: 57,615,596	H160Q	probably benign	Het
Lrrc34	T	C	3: 30,624,887	I354V	probably benign	Het
Mpeg1	A	T	19: 12,461,714	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,426,589	L307H	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nav3	C	A	10: 109,853,477	S313I	probably benign	Het
Nmt2	T	G	2: 3,284,315	S7A	probably benign	Het
Nsmce1	T	C	7: 125,469,082	S197G	probably benign	Het
Ociad2	A	G	5: 73,335,875	V4A	probably benign	Het
Olfr680-ps1	G	T	7: 105,092,798	T7K	probably benign	Het
Osmr	T	C	15: 6,821,088	D679G	possibly damaging	Het
Pappa	T	A	4: 65,189,450	F699L	probably benign	Het
Parp8	T	A	13: 117,025,266	M40L	probably benign	Het
Pcyox1	A	T	6: 86,394,537	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,890,737	S1224G		Het
Pkd1l3	T	A	8: 109,636,340	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,631,077	V155A	probably benign	Het
Rbm6	A	C	9: 107,853,211	D79E	probably damaging	Het
Sec31b	A	T	19: 44,518,936	S819T	probably benign	Het
Slc22a27	A	T	19: 7,926,547	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,098,589	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,365,319	S612P	probably benign	Het
Slc7a2	A	T	8: 40,915,013	I605F	probably benign	Het
Slit2	A	G	5: 48,244,683	T805A	probably benign	Het
Strbp	A	T	2: 37,624,502	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,607,009	Q155*	probably null	Het
Sybu	A	T	15: 44,677,714	N317K	possibly damaging	Het
Taok1	G	A	11: 77,571,633	S210F	probably damaging	Het
Tapbp	A	G	17: 33,920,048	D72G	possibly damaging	Het
Thbd	G	T	2: 148,406,541	T469K	probably benign	Het
Tia1	T	C	6: 86,427,688	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,840,283	F438L	probably benign	Het
Tmem235	C	T	11: 117,860,897	S49L	probably damaging	Het
Trip4	A	G	9: 65,885,221		probably benign	Het
Trrap	C	A	5: 144,803,178	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,513,848	E109G	probably benign	Het
Wdfy4	T	C	14: 33,151,578	Y258C		Het
Wdr91	T	G	6: 34,908,263	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,890,559	H459R	probably damaging	Het
Zfp936	T	A	7: 43,190,291	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,281,059	D423N	probably damaging	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
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
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'- AGCTAAAATCGACGCCTGAG -3'
(R):5'- CTGTTGGTGAGCACTAGAGG -3'

Sequencing Primer
(F):5'- CGCCTGAGAATAGAAAGGTCTACTC -3'
(R):5'- TTGGTGAGCACTAGAGGAAGCG -3'

Posted On

2019-05-15