Mutagenetix > Incidental Mutation

Incidental Mutation 'R1942:Cpeb2'

216275

Institutional Source

Beutler Lab

Gene Symbol

Cpeb2

Ensembl Gene

ENSMUSG00000039782

Gene Name

cytoplasmic polyadenylation element binding protein 2

Synonyms

A630055H10Rik

MMRRC Submission

039960-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R1942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43390513-43447067 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 43392596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125857 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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

noncoding transcript
Transcript: ENSMUST00000127599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140650

SMART Domains

Protein: ENSMUSP00000130435
Gene: ENSMUSG00000085720

Domain	Start	End	E-Value	Type
low complexity region	52	66	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187911

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,949,625 (GRCm39)	Y1174F	probably damaging	Het
Ahnak	A	G	19: 8,992,447 (GRCm39)	E4577G	probably damaging	Het
Anapc4	T	C	5: 53,004,056 (GRCm39)	V291A	probably benign	Het
Apba2	A	G	7: 64,345,218 (GRCm39)	E136G	possibly damaging	Het
Arhgap20	C	A	9: 51,742,998 (GRCm39)	Q279K	probably benign	Het
B3galnt1	A	T	3: 69,483,258 (GRCm39)	M1K	probably null	Het
C4bp	C	A	1: 130,583,804 (GRCm39)		probably benign	Het
Catsperg1	G	A	7: 28,906,232 (GRCm39)	T157I	possibly damaging	Het
Cfap90	A	C	13: 68,761,090 (GRCm39)	I171L	probably benign	Het
Chrm1	T	A	19: 8,655,637 (GRCm39)	M114K	probably damaging	Het
Clasp1	A	G	1: 118,429,078 (GRCm39)	E329G	possibly damaging	Het
Clrn2	A	C	5: 45,611,337 (GRCm39)	Y62S	probably benign	Het
Col12a1	T	G	9: 79,542,748 (GRCm39)	D2339A	probably damaging	Het
Copa	T	A	1: 171,939,455 (GRCm39)	L564Q	probably damaging	Het
Dhx57	A	T	17: 80,572,573 (GRCm39)	M647K	probably damaging	Het
Diaph3	C	T	14: 87,378,556 (GRCm39)		probably benign	Het
Eomes	A	G	9: 118,313,716 (GRCm39)	D587G	probably benign	Het
Gm5142	T	A	14: 59,416,156 (GRCm39)	M1L	probably benign	Het
Gnl2	A	G	4: 124,923,957 (GRCm39)	I12V	probably benign	Het
Gprin1	C	T	13: 54,887,752 (GRCm39)	C174Y	probably benign	Het
Grin2b	A	T	6: 135,709,730 (GRCm39)	V1272E	possibly damaging	Het
Hdac9	A	G	12: 34,479,544 (GRCm39)	L227S	probably damaging	Het
Helz	T	A	11: 107,493,318 (GRCm39)	L247Q	probably benign	Het
Hs6st1	T	C	1: 36,107,803 (GRCm39)	V22A	probably benign	Het
Hspg2	C	A	4: 137,269,863 (GRCm39)	A2304E	possibly damaging	Het
Htr3a	T	C	9: 48,819,911 (GRCm39)	Y73C	probably damaging	Het
Il1rap	A	C	16: 26,541,205 (GRCm39)	E482A	probably damaging	Het
Itsn2	T	A	12: 4,689,670 (GRCm39)	L581*	probably null	Het
Msmb	A	G	14: 31,870,034 (GRCm39)	E2G	probably benign	Het
Muc19	T	C	15: 91,776,666 (GRCm39)		noncoding transcript	Het
Muc4	A	C	16: 32,569,460 (GRCm39)	L173F	probably damaging	Het
Muc5b	A	T	7: 141,411,421 (GRCm39)	S1456C	unknown	Het
Mylip	A	T	13: 45,560,172 (GRCm39)	I203F	probably damaging	Het
Nckap5	A	T	1: 125,952,039 (GRCm39)	D1504E	probably damaging	Het
Neil1	C	G	9: 57,053,891 (GRCm39)	R143P	probably benign	Het
Nlrp2	T	A	7: 5,325,447 (GRCm39)	T742S	probably damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Nsun7	C	T	5: 66,441,588 (GRCm39)	T419I	probably benign	Het
Nup210l	G	A	3: 90,058,544 (GRCm39)	E648K	probably benign	Het
Or10g6	T	A	9: 39,934,031 (GRCm39)	L114H	probably damaging	Het
Or10g6	T	C	9: 39,934,048 (GRCm39)	Y120H	probably damaging	Het
Or2y1c	T	C	11: 49,360,981 (GRCm39)	M1T	probably null	Het
Or8s2	A	G	15: 98,276,445 (GRCm39)	L182P	probably damaging	Het
Parp11	A	C	6: 127,447,663 (GRCm39)		probably null	Het
Pomgnt1	G	T	4: 116,012,472 (GRCm39)		probably null	Het
Ppp1r14c	T	C	10: 3,413,417 (GRCm39)	I150T	probably damaging	Het
Psd4	A	G	2: 24,295,805 (GRCm39)	E908G	probably damaging	Het
Psmd6	A	T	14: 14,116,442 (GRCm38)	V91E	probably damaging	Het
Ptk2b	A	T	14: 66,406,830 (GRCm39)	V634D	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rbm45	G	A	2: 76,205,823 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,578,416 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,282,689 (GRCm39)	K416E	probably damaging	Het
Six5	C	T	7: 18,830,858 (GRCm39)	A495V	possibly damaging	Het
Slc27a6	T	A	18: 58,689,870 (GRCm39)	M112K	probably damaging	Het
Slc5a4a	T	C	10: 75,983,422 (GRCm39)	S20P	unknown	Het
Smg1	A	G	7: 117,757,326 (GRCm39)		probably benign	Het
Sntb2	G	A	8: 107,737,984 (GRCm39)	A511T	probably damaging	Het
Stk31	A	T	6: 49,416,061 (GRCm39)	N622I	probably damaging	Het
Sulf1	T	C	1: 12,918,397 (GRCm39)	F38S	probably damaging	Het
Szt2	G	T	4: 118,249,817 (GRCm39)	T521K	probably benign	Het
Terf1	G	T	1: 15,876,038 (GRCm39)	R46I	probably benign	Het
Tmem245	A	G	4: 56,923,511 (GRCm39)		probably benign	Het
Tmigd1	T	C	11: 76,804,905 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umod	A	G	7: 119,076,155 (GRCm39)	Y204H	probably damaging	Het
Vcan	T	A	13: 89,851,543 (GRCm39)	Q1139L	probably benign	Het
Vmn1r85	T	A	7: 12,818,668 (GRCm39)	T159S	possibly damaging	Het
Vmn2r103	T	A	17: 20,032,562 (GRCm39)	S779T	probably benign	Het
Vmn2r27	C	T	6: 124,200,722 (GRCm39)	A412T	probably damaging	Het
Zc3h12d	A	C	10: 7,729,077 (GRCm39)	D147A	probably damaging	Het
Zfp800	A	T	6: 28,243,272 (GRCm39)	D564E	probably benign	Het
Zfp932	A	G	5: 110,154,853 (GRCm39)	E17G	probably damaging	Het

Other mutations in Cpeb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Cpeb2	APN	5	43,443,174 (GRCm39)	missense	probably damaging	0.98
IGL00771:Cpeb2	APN	5	43,394,890 (GRCm39)	missense	possibly damaging	0.94
IGL00797:Cpeb2	APN	5	43,438,790 (GRCm39)	missense	probably damaging	1.00
IGL01604:Cpeb2	APN	5	43,436,038 (GRCm39)	critical splice donor site	probably null
IGL01632:Cpeb2	APN	5	43,394,765 (GRCm39)	missense	probably benign	0.25
IGL03137:Cpeb2	APN	5	43,419,067 (GRCm39)	splice site	probably benign
R0125:Cpeb2	UTSW	5	43,395,743 (GRCm39)	intron	probably benign
R0200:Cpeb2	UTSW	5	43,419,119 (GRCm39)	missense	possibly damaging	0.57
R0453:Cpeb2	UTSW	5	43,443,056 (GRCm39)	splice site	probably benign
R1411:Cpeb2	UTSW	5	43,391,113 (GRCm39)	unclassified	probably benign
R1542:Cpeb2	UTSW	5	43,443,218 (GRCm39)	missense	probably damaging	1.00
R1563:Cpeb2	UTSW	5	43,443,080 (GRCm39)	missense	probably damaging	1.00
R1573:Cpeb2	UTSW	5	43,441,273 (GRCm39)	splice site	probably benign
R1703:Cpeb2	UTSW	5	43,391,181 (GRCm39)	unclassified	probably benign
R1899:Cpeb2	UTSW	5	43,434,930 (GRCm39)	missense	probably damaging	1.00
R3429:Cpeb2	UTSW	5	43,438,573 (GRCm39)	critical splice donor site	probably null
R3610:Cpeb2	UTSW	5	43,443,276 (GRCm39)	missense	probably damaging	0.98
R3848:Cpeb2	UTSW	5	43,394,788 (GRCm39)	missense	probably damaging	0.97
R4005:Cpeb2	UTSW	5	43,395,755 (GRCm39)	intron	probably benign
R4306:Cpeb2	UTSW	5	43,392,578 (GRCm39)	intron	probably benign
R4667:Cpeb2	UTSW	5	43,391,235 (GRCm39)	unclassified	probably benign
R4754:Cpeb2	UTSW	5	43,443,200 (GRCm39)	missense	possibly damaging	0.93
R4821:Cpeb2	UTSW	5	43,390,817 (GRCm39)	unclassified	probably benign
R4906:Cpeb2	UTSW	5	43,402,005 (GRCm39)	missense	possibly damaging	0.50
R5237:Cpeb2	UTSW	5	43,443,099 (GRCm39)	missense	probably damaging	0.99
R6693:Cpeb2	UTSW	5	43,443,255 (GRCm39)	missense	probably damaging	1.00
R7473:Cpeb2	UTSW	5	43,434,848 (GRCm39)	missense
R7825:Cpeb2	UTSW	5	43,394,882 (GRCm39)	missense	probably damaging	1.00
R8138:Cpeb2	UTSW	5	43,392,352 (GRCm39)	missense
R8162:Cpeb2	UTSW	5	43,394,681 (GRCm39)	missense
R8735:Cpeb2	UTSW	5	43,438,775 (GRCm39)	nonsense	probably null
R9062:Cpeb2	UTSW	5	43,391,171 (GRCm39)	missense
R9087:Cpeb2	UTSW	5	43,438,461 (GRCm39)	missense
R9258:Cpeb2	UTSW	5	43,391,455 (GRCm39)	missense
R9374:Cpeb2	UTSW	5	43,391,584 (GRCm39)	nonsense	probably null
R9460:Cpeb2	UTSW	5	43,390,769 (GRCm39)	start gained	probably benign
R9744:Cpeb2	UTSW	5	43,391,268 (GRCm39)	missense
Z1176:Cpeb2	UTSW	5	43,392,060 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TTTACCTCAACAGCAGCCGC -3'
(R):5'- CTTCAACCCTTCAAGATGTGACC -3'

Sequencing Primer
(F):5'- CTTCCTGCAGCAGAGGAAC -3'
(R):5'- TGTGACCAAACATTAAAAAGAGCAG -3'

Posted On

2014-08-01