Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Cnot2'

715991

Institutional Source

Beutler Lab

Gene Symbol

Cnot2

Ensembl Gene

ENSMUSG00000020166

Gene Name

CCR4-NOT transcription complex, subunit 2

Synonyms

2810470K03Rik, 2600016M12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R9343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116485161-116581511 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116510421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 92 (H92P)

Ref Sequence

ENSEMBL: ENSMUSP00000020374 (fasta)

Gene Model

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

AlphaFold

Q8C5L3

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

probably benign
Transcript: ENSMUST00000105267

SMART Domains

Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166

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

SMART Domains

Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166

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

SMART Domains

Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166

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

SMART Domains

Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166

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

SMART Domains

Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166

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: ENSMUST00000218490

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,717,160	I960V	probably benign	Het
Alpk3	A	G	7: 81,092,331	D632G	probably benign	Het
Aplp2	A	T	9: 31,211,639	L30Q	unknown	Het
Axl	A	T	7: 25,774,119	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,249,520		probably benign	Het
Bsn	T	C	9: 108,115,502	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,718,657	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,314,523	G594S	probably damaging	Het
Clcn6	A	G	4: 148,014,001	S519P	probably benign	Het
Col2a1	T	C	15: 97,979,894	D1049G	probably damaging	Het
Creld1	C	T	6: 113,489,767	A237V	probably benign	Het
Csf2rb2	A	T	15: 78,287,087		probably benign	Het
Csmd3	G	A	15: 48,151,605	T643I	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fcmr	A	T	1: 130,874,335	T109S		Het
Grap	C	A	11: 61,671,725	P174Q	possibly damaging	Het
Itgb5	T	A	16: 33,910,456		probably benign	Het
Kidins220	A	G	12: 25,008,079	N561S	probably damaging	Het
Mkl2	T	C	16: 13,400,927	V479A	probably benign	Het
Mri1	A	T	8: 84,257,167	S32T	probably benign	Het
Muc4	A	T	16: 32,751,153	T344S	possibly damaging	Het
Npc1	A	G	18: 12,201,712	I661T	possibly damaging	Het
Npy1r	A	G	8: 66,704,099	N57S	probably damaging	Het
Pds5b	A	G	5: 150,780,721	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,564	V400D	probably damaging	Het
Polr2l	A	G	7: 141,473,333	I56T	probably benign	Het
Ppat	A	G	5: 76,916,037	I422T	probably benign	Het
Prkcg	T	A	7: 3,310,608	S110R	possibly damaging	Het
Rab7b	A	T	1: 131,711,802		probably benign	Het
Rnf152	A	T	1: 105,284,526	L102Q		Het
Samd12	A	G	15: 53,719,692	V82A	probably damaging	Het
Serpina1e	T	A	12: 103,951,040	R123S	probably benign	Het
Slit1	T	A	19: 41,627,298	N794I	probably damaging	Het
Surf6	T	C	2: 26,892,994	K154R	probably damaging	Het
Tln2	C	T	9: 67,323,071	A71T	probably benign	Het
Trim3	A	G	7: 105,611,466	Y649H	probably benign	Het
Ttll7	T	A	3: 146,961,742	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,427,423	D104G	probably damaging	Het
Upp2	A	G	2: 58,755,327		probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r119	A	G	7: 21,012,433	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,806,376	H48L	probably damaging	Het
Wdr11	T	C	7: 129,630,799		probably null	Het
Zcchc17	T	C	4: 130,316,753	D207G	probably damaging	Het
Zfp78	T	C	7: 6,378,943	S331P	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
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
R9508:Cnot2	UTSW	10	116493711	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACACCCAAGGACTGCCTATC -3'
(R):5'- TTGGAAGACAGTTTGCAAACGG -3'

Sequencing Primer
(F):5'- GGACTGCCTATCCAAAATTATCTCTG -3'
(R):5'- TCACCAACCCTGTGGAAT -3'

Posted On

2022-06-15