Mutagenetix > Incidental Mutations

Incidental Mutation 'R1573:Cpeb2'

170958

Institutional Source

Beutler Lab

Gene Symbol

Cpeb2

Ensembl Gene

ENSMUSG00000039782

Gene Name

cytoplasmic polyadenylation element binding protein 2

Synonyms

A630055H10Rik

MMRRC Submission

039612-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43233170-43289724 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 43283930 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114066] [ENSMUST00000166713] [ENSMUST00000169035]

Predicted Effect

probably benign
Transcript: ENSMUST00000114065

SMART Domains

Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782

Domain	Start	End	E-Value	Type
low complexity region	3	41	N/A	INTRINSIC
RRM	265	337	1.5e-4	SMART
RRM	373	446	1.86e-2	SMART
PDB:2M13\|A	447	512	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114066

SMART Domains

Protein: ENSMUSP00000109700
Gene: ENSMUSG00000039782

Domain	Start	End	E-Value	Type
low complexity region	3	41	N/A	INTRINSIC
low complexity region	222	232	N/A	INTRINSIC
RRM	273	345	1.5e-4	SMART
RRM	381	454	1.86e-2	SMART
PDB:2M13\|A	455	520	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000166713

SMART Domains

Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	30	53	N/A	INTRINSIC
low complexity region	56	79	N/A	INTRINSIC
low complexity region	142	156	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
low complexity region	178	199	N/A	INTRINSIC
low complexity region	204	215	N/A	INTRINSIC
low complexity region	245	276	N/A	INTRINSIC
low complexity region	279	293	N/A	INTRINSIC
low complexity region	342	369	N/A	INTRINSIC
low complexity region	375	433	N/A	INTRINSIC
low complexity region	451	460	N/A	INTRINSIC
low complexity region	471	481	N/A	INTRINSIC
low complexity region	489	534	N/A	INTRINSIC
RRM	758	830	1.5e-4	SMART
RRM	866	939	1.86e-2	SMART
PDB:2M13\|A	940	1005	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000169035

SMART Domains

Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	30	53	N/A	INTRINSIC
low complexity region	56	79	N/A	INTRINSIC
low complexity region	142	156	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
low complexity region	178	199	N/A	INTRINSIC
low complexity region	204	215	N/A	INTRINSIC
low complexity region	245	276	N/A	INTRINSIC
low complexity region	279	293	N/A	INTRINSIC
low complexity region	342	369	N/A	INTRINSIC
low complexity region	375	433	N/A	INTRINSIC
low complexity region	451	460	N/A	INTRINSIC
low complexity region	471	481	N/A	INTRINSIC
low complexity region	489	534	N/A	INTRINSIC
low complexity region	685	695	N/A	INTRINSIC
RRM	736	808	1.5e-4	SMART
RRM	844	917	1.86e-2	SMART
PDB:2M13\|A	918	983	2e-6	PDB

Meta Mutation Damage Score

0.1172

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early postnatal lethality, decreased heart rate, and increased parasympathetic signaling leading to increased pulmonary acetylcholine level, bronchoconstriction, severe apnea, and abnormal breathing patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,113,618		probably benign	Het
Add1	C	G	5: 34,601,396	A18G	possibly damaging	Het
Alk	T	C	17: 72,603,118	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,857,170	L303Q	possibly damaging	Het
Aox2	A	T	1: 58,309,027	I635L	probably benign	Het
Atp8a2	G	T	14: 59,860,206	T791K	probably benign	Het
Auts2	T	C	5: 131,440,487	K664R	probably damaging	Het
Birc6	T	A	17: 74,660,690		probably benign	Het
Cacna1i	C	A	15: 80,393,668		probably null	Het
Cacna2d1	T	C	5: 16,370,627	F1077L	probably damaging	Het
Camkk1	C	T	11: 73,027,481	R52C	probably damaging	Het
Camkmt	T	A	17: 85,096,530	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cbr2	A	T	11: 120,731,965	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,750,655	D920E	unknown	Het
Cdc20b	A	G	13: 113,055,944	N57S	probably benign	Het
Cep83	G	A	10: 94,788,663	E601K	probably damaging	Het
Cldn10	A	T	14: 118,873,668	I176L	probably benign	Het
Crb1	A	G	1: 139,337,606	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,102,874	Y319F	probably damaging	Het
Dst	C	T	1: 34,201,231	S1561F	probably damaging	Het
Dxo	C	T	17: 34,838,294	R221C	probably damaging	Het
Epc2	A	G	2: 49,549,972	T801A	possibly damaging	Het
Fam71a	G	A	1: 191,164,485		probably benign	Het
Fndc3a	C	A	14: 72,568,944	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932	S918P	probably benign	Het
Fuca2	A	G	10: 13,505,843	T84A	possibly damaging	Het
Gmeb1	A	T	4: 132,251,740	N21K	probably benign	Het
Htt	T	C	5: 34,864,374		probably benign	Het
Igsf1	T	C	X: 49,791,986	R251G	possibly damaging	Het
Itih4	A	T	14: 30,897,547	H720L	probably benign	Het
Kank4	A	T	4: 98,774,836	L705*	probably null	Het
Krt34	A	T	11: 100,041,028	S122T	probably benign	Het
L1td1	A	G	4: 98,737,280	T571A	probably benign	Het
Lag3	T	C	6: 124,909,247	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,284,181	H133Q	probably benign	Het
Map1a	A	T	2: 121,304,126	T1808S	probably benign	Het
Mcm9	T	C	10: 53,548,656	T613A	probably damaging	Het
Meaf6	A	G	4: 125,090,138	I111V	probably benign	Het
Mki67	G	A	7: 135,695,116	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,958,147	C337G	probably damaging	Het
Mrc2	T	A	11: 105,336,656	Y572N	probably damaging	Het
Mterf3	T	C	13: 66,922,903	N172S	possibly damaging	Het
Olfr1220	T	A	2: 89,097,720	D69V	probably damaging	Het
Olfr1270	A	T	2: 90,148,724		probably benign	Het
Olfr402	T	A	11: 74,155,370	M72K	probably benign	Het
Olfr804	T	C	10: 129,705,618	S247P	probably damaging	Het
Olfr987	A	T	2: 85,331,343	L185H	probably damaging	Het
Padi4	T	G	4: 140,757,570	T327P	possibly damaging	Het
Pga5	T	A	19: 10,673,837	I151F	probably benign	Het
Pkdrej	G	T	15: 85,818,074	D1220E	probably benign	Het
Prokr2	T	A	2: 132,373,764	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,753,105	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,832,930	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,965,863		probably null	Het
Saa2	T	A	7: 46,752,292	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426	I612V	probably damaging	Het
Scn10a	C	T	9: 119,613,626	V1518I	probably benign	Het
Serpina6	T	C	12: 103,651,753	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,842,372		probably null	Het
Sh3bp2	T	C	5: 34,560,690	V505A	probably benign	Het
Smad2	A	G	18: 76,262,586	E32G	possibly damaging	Het
Smn1	T	G	13: 100,126,610	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,035,069	S142P	possibly damaging	Het
Stk39	A	T	2: 68,390,949	I210N	probably damaging	Het
Tcte2	A	G	17: 13,717,637		probably benign	Het
Tctex1d4	A	T	4: 117,127,994	T5S	probably benign	Het
Tctn3	C	A	19: 40,608,917	E230*	probably null	Het
Tenm2	A	T	11: 36,047,069	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,333,243	V219A	probably damaging	Het
Tgm6	C	T	2: 130,151,740	S633L	probably benign	Het
Tmcc1	C	T	6: 116,133,963	S123N	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,779,755	R992C	probably damaging	Het
Usmg5	T	A	19: 47,086,195	Q9L	possibly damaging	Het
Vwa5b1	G	A	4: 138,604,873	H278Y	probably damaging	Het
Wwp2	C	T	8: 107,548,489	R373W	probably damaging	Het
Zfp24	A	T	18: 24,017,342	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,171,497	I180T	possibly damaging	Het
Zfp820	T	A	17: 21,818,756	Q530H	probably benign	Het
Zfp975	A	T	7: 42,662,083	Y369N	probably benign	Het

Other mutations in Cpeb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Cpeb2	APN	5	43285831	missense	probably damaging	0.98
IGL00771:Cpeb2	APN	5	43237547	missense	possibly damaging	0.94
IGL00797:Cpeb2	APN	5	43281447	missense	probably damaging	1.00
IGL01604:Cpeb2	APN	5	43278695	critical splice donor site	probably null
IGL01632:Cpeb2	APN	5	43237422	missense	probably benign	0.25
IGL03137:Cpeb2	APN	5	43261724	splice site	probably benign
R0125:Cpeb2	UTSW	5	43238400	intron	probably benign
R0200:Cpeb2	UTSW	5	43261776	missense	possibly damaging	0.57
R0453:Cpeb2	UTSW	5	43285713	splice site	probably benign
R1411:Cpeb2	UTSW	5	43233770	unclassified	probably benign
R1542:Cpeb2	UTSW	5	43285875	missense	probably damaging	1.00
R1563:Cpeb2	UTSW	5	43285737	missense	probably damaging	1.00
R1703:Cpeb2	UTSW	5	43233838	unclassified	probably benign
R1899:Cpeb2	UTSW	5	43277587	missense	probably damaging	1.00
R1942:Cpeb2	UTSW	5	43235253	intron	probably benign
R3429:Cpeb2	UTSW	5	43281230	critical splice donor site	probably null
R3610:Cpeb2	UTSW	5	43285933	missense	probably damaging	0.98
R3848:Cpeb2	UTSW	5	43237445	missense	probably damaging	0.97
R4005:Cpeb2	UTSW	5	43238412	intron	probably benign
R4306:Cpeb2	UTSW	5	43235235	intron	probably benign
R4667:Cpeb2	UTSW	5	43233892	unclassified	probably benign
R4754:Cpeb2	UTSW	5	43285857	missense	possibly damaging	0.93
R4821:Cpeb2	UTSW	5	43233474	unclassified	probably benign
R4906:Cpeb2	UTSW	5	43244662	missense	possibly damaging	0.50
R5237:Cpeb2	UTSW	5	43285756	missense	probably damaging	0.99
R6693:Cpeb2	UTSW	5	43285912	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGCATGGCACTGCTTCTGCAC -3'
(R):5'- TGCTGAAGCTGAACAAATCGAGCAC -3'

Sequencing Primer
(F):5'- TGAGTCTAACTCGGCAGTAAGC -3'
(R):5'- CTGATGGCAGCAATGTAGCTC -3'

Posted On

2014-04-13