Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Cpeb2'

662966

Institutional Source

Beutler Lab

Gene Symbol

Cpeb2

Ensembl Gene

ENSMUSG00000039782

Gene Name

cytoplasmic polyadenylation element binding protein 2

Synonyms

A630055H10Rik

MMRRC Submission

068583-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43390513-43447067 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43438775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 869 (L869*)

Ref Sequence

ENSEMBL: ENSMUSP00000130921 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000114065
AA Change: L695*

SMART Domains

Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: L695*

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 null
Transcript: ENSMUST00000166713
AA Change: L869*

SMART Domains

Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: L869*

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 null
Transcript: ENSMUST00000169035
AA Change: L839*

SMART Domains

Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: L839*

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

Coding Region Coverage

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

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,731 (GRCm39)	F9S	unknown	Het
Abhd10	A	G	16: 45,557,997 (GRCm39)	F101L	probably damaging	Het
Acp2	A	G	2: 91,034,651 (GRCm39)	T93A	probably benign	Het
Adamts9	C	T	6: 92,837,048 (GRCm39)		probably benign	Het
Aknad1	T	A	3: 108,682,615 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,822,785 (GRCm39)	T485S	probably benign	Het
Caly	G	A	7: 139,652,503 (GRCm39)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,786,343 (GRCm39)	L8P	probably damaging	Het
Cxxc1	A	G	18: 74,350,331 (GRCm39)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,533 (GRCm39)		probably null	Het
Cyp4a30b	G	A	4: 115,309,976 (GRCm39)	W59*	probably null	Het
Dennd4b	T	C	3: 90,185,172 (GRCm39)	V1204A	probably damaging	Het
Dpyd	T	A	3: 118,935,565 (GRCm39)	D663E	possibly damaging	Het
Esrrg	A	T	1: 187,933,205 (GRCm39)		probably benign	Het
Exoc2	A	C	13: 31,090,822 (GRCm39)	L261V	probably damaging	Het
Exosc9	T	C	3: 36,609,662 (GRCm39)	L185S	probably damaging	Het
Gcnt3	T	C	9: 69,941,728 (GRCm39)	K280R	probably benign	Het
Ighv1-64	A	T	12: 115,471,217 (GRCm39)	M100K	probably benign	Het
Impdh2	G	A	9: 108,441,978 (GRCm39)		probably null	Het
Itsn2	T	A	12: 4,721,474 (GRCm39)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,584,783 (GRCm39)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,490,130 (GRCm39)	S211G	probably benign	Het
Lama2	T	A	10: 27,066,530 (GRCm39)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,399,865 (GRCm39)		probably null	Het
Mab21l4	C	T	1: 93,082,208 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,411,374 (GRCm39)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,964,062 (GRCm39)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,460,586 (GRCm39)	K1493N	probably damaging	Het
Myo15a	A	T	11: 60,401,679 (GRCm39)		probably null	Het
Myo1b	A	T	1: 51,794,896 (GRCm39)	F1065I	probably benign	Het
Nf1	A	G	11: 79,345,136 (GRCm39)		probably benign	Het
Nup153	C	A	13: 46,881,027 (GRCm39)		probably benign	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or5b97	A	G	19: 12,878,274 (GRCm39)	V290A	possibly damaging	Het
Osbpl7	A	G	11: 96,943,194 (GRCm39)	T149A	probably benign	Het
Parp1	A	G	1: 180,396,690 (GRCm39)	D31G	probably benign	Het
Pcdha6	T	A	18: 37,101,203 (GRCm39)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,489,975 (GRCm39)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,311,808 (GRCm39)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,197,049 (GRCm39)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,136,234 (GRCm39)	R908Q		Het
Pnpla8	A	G	12: 44,330,222 (GRCm39)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,537,127 (GRCm39)	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964 (GRCm39)	I970S	possibly damaging	Het
Robo2	A	T	16: 73,755,247 (GRCm39)	V758D	probably damaging	Het
Robo4	G	A	9: 37,319,577 (GRCm39)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,830,920 (GRCm39)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Ryr2	C	A	13: 11,701,833 (GRCm39)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,825,687 (GRCm39)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,280,301 (GRCm39)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,174,715 (GRCm39)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,077,770 (GRCm39)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,453,410 (GRCm39)	L309P	possibly damaging	Het
Smyd3	G	T	1: 178,920,482 (GRCm39)	N217K	probably benign	Het
Spen	T	C	4: 141,197,129 (GRCm39)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,253,729 (GRCm39)	I126F	unknown	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmprss15	A	T	16: 78,798,702 (GRCm39)	I660N	possibly damaging	Het
Trf	A	T	9: 103,087,723 (GRCm39)	V677D	probably damaging	Het
Trim36	T	C	18: 46,302,452 (GRCm39)	N532S	probably benign	Het
Trim37	T	C	11: 87,037,885 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,570,454 (GRCm39)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,567,537 (GRCm39)	V277D	probably damaging	Het
Wdfy3	T	C	5: 102,077,951 (GRCm39)	D873G	probably benign	Het
Wdr27	T	C	17: 15,103,929 (GRCm39)	T726A	probably damaging	Het
Wdr97	T	C	15: 76,240,775 (GRCm39)	Y488H		Het
Wdtc1	A	T	4: 133,031,511 (GRCm39)	C236*	probably null	Het
Wnk4	A	C	11: 101,167,092 (GRCm39)	S1083R	unknown	Het
Wwc1	A	T	11: 35,774,234 (GRCm39)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,725,957 (GRCm39)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,108,227 (GRCm39)	C773R	probably damaging	Het
Zfp709	T	A	8: 72,643,027 (GRCm39)	I152N	probably benign	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,503,625 (GRCm39)	S645A	probably benign	Het
Zw10	A	G	9: 48,988,861 (GRCm39)	Y709C	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
R1942:Cpeb2	UTSW	5	43,392,596 (GRCm39)	intron	probably benign
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
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'- TGCCCTATAAAGGCAGGTTTTC -3'
(R):5'- ATCACTAGCCTTTCAGATGGTG -3'

Sequencing Primer
(F):5'- CCTATAAAGGCAGGTTTTCAAAGTGG -3'
(R):5'- CACTAGCCTTTCAGATGGTGTGATAC -3'

Posted On

2021-03-08