Mutagenetix > Incidental Mutation

Incidental Mutation 'R4063:Cnot2'

315975

Institutional Source

Beutler Lab

Gene Symbol

Cnot2

Ensembl Gene

ENSMUSG00000020166

Gene Name

CCR4-NOT transcription complex, subunit 2

Synonyms

2810470K03Rik, 2600016M12Rik

MMRRC Submission

041619-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R4063 (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 116537396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

Ref Sequence

ENSEMBL: ENSMUSP00000130192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020374] [ENSMUST00000105265] [ENSMUST00000105267] [ENSMUST00000164088] [ENSMUST00000167706] [ENSMUST00000168036] [ENSMUST00000169507] [ENSMUST00000169576] [ENSMUST00000169921] [ENSMUST00000218744] [ENSMUST00000218490]

AlphaFold

Q8C5L3

Predicted Effect

probably benign
Transcript: ENSMUST00000020374

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

noncoding transcript
Transcript: ENSMUST00000164383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167644

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

possibly damaging
Transcript: ENSMUST00000169576
AA Change: V34A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

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

noncoding transcript
Transcript: ENSMUST00000169937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220305

Predicted Effect

probably benign
Transcript: ENSMUST00000218744

Predicted Effect

probably benign
Transcript: ENSMUST00000218490

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,953,108	F145L	probably benign	Het
3632451O06Rik	T	A	14: 49,773,987	M88L	probably benign	Het
Abcc9	T	C	6: 142,605,919	D1221G	possibly damaging	Het
Adamtsl4	T	C	3: 95,677,554	K935E	probably benign	Het
Ago4	A	T	4: 126,515,862		probably benign	Het
Arhgef28	T	C	13: 97,994,067	D421G	probably benign	Het
Atl2	T	C	17: 79,850,159	*413W	probably null	Het
B4galt7	C	A	13: 55,608,339		probably null	Het
C87977	T	C	4: 144,208,695	K161E	possibly damaging	Het
C8g	A	T	2: 25,499,413	S147T	probably damaging	Het
Clstn3	A	T	6: 124,449,833	Y510N	possibly damaging	Het
Cyb5d2	A	T	11: 72,795,780		probably benign	Het
Dnah5	T	C	15: 28,420,998	I3827T	probably damaging	Het
Dnah7a	G	T	1: 53,425,217	Q3672K	probably benign	Het
Dock1	A	T	7: 135,115,292	Y1219F	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	A	T	8: 45,025,481	E2521D	probably benign	Het
Gm10719	G	T	9: 3,019,043	W96L	probably damaging	Het
Gm13083	A	G	4: 143,615,989	D222G	possibly damaging	Het
H2-M2	G	A	17: 37,481,508	H291Y	probably damaging	Het
Hmgcl	T	C	4: 135,958,724	Y167H	probably damaging	Het
Il22ra2	A	T	10: 19,626,652	D73V	possibly damaging	Het
Incenp	A	T	19: 9,883,778	M480K	unknown	Het
Kdm6a	A	G	X: 18,250,875	T266A	probably benign	Het
Lipf	A	G	19: 33,965,565	N91S	probably benign	Het
M1ap	A	T	6: 83,003,775	N214I	probably damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Mdga1	A	G	17: 29,838,031	C826R	probably damaging	Het
Mrvi1	G	T	7: 110,923,777	A359D	probably benign	Het
Msx1	C	A	5: 37,824,021	A105S	probably benign	Het
Olfr205	A	C	16: 59,328,880	S210A	probably benign	Het
Otogl	A	T	10: 107,790,649	D1451E	probably benign	Het
Otop2	G	A	11: 115,329,375	G347D	probably damaging	Het
Ppp1r13l	A	T	7: 19,370,053	H153L	probably benign	Het
Proz	A	G	8: 13,064,621	Y85C	probably damaging	Het
Prss50	A	G	9: 110,858,412	D141G	probably benign	Het
Rad54l2	T	A	9: 106,720,414	Q131L	probably benign	Het
Sdha	A	G	13: 74,323,958		probably benign	Het
Sema3d	T	A	5: 12,585,124	I719N	probably benign	Het
Slc18b1	A	T	10: 23,805,981	I148L	probably benign	Het
Tacc2	G	T	7: 130,729,122	D2086Y	probably damaging	Het
Tchh	T	C	3: 93,446,991	L1246P	unknown	Het
Tmprss11d	T	C	5: 86,309,318	I161V	probably benign	Het
Trpc3	T	C	3: 36,671,023	D268G	probably damaging	Het
Trpm8	G	A	1: 88,362,005	R895H	probably damaging	Het
Txndc2	A	G	17: 65,638,084	I366T	possibly damaging	Het
Ugt2a3	T	C	5: 87,336,866	I100V	probably benign	Het
Uhrf1bp1l	A	G	10: 89,816,055	N247S	probably benign	Het
Upp1	C	A	11: 9,131,709	P82Q	probably damaging	Het
Vim	A	G	2: 13,580,016		probably null	Het
Vmn2r12	A	T	5: 109,092,192	N168K	possibly damaging	Het
Zdhhc14	G	T	17: 5,752,708	C362F	probably damaging	Het
Zfp292	A	G	4: 34,810,863	V727A	probably damaging	Het
Zswim5	G	A	4: 116,877,980	G174D	unknown	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
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'- ACTGTTGAGCCCAGCTTTC -3'
(R):5'- AGTGTTCAGAGCTTTGCCC -3'

Sequencing Primer
(F):5'- CGCATCTACTTACCTGTGCAAC -3'
(R):5'- CAGAGCTTTGCCCTTTTTAGG -3'

Posted On

2015-05-15