Mutagenetix > Incidental Mutation

Incidental Mutation 'R9460:Cpeb2'

736042

Institutional Source

Beutler Lab

Gene Symbol

Cpeb2

Ensembl Gene

ENSMUSG00000039782

Gene Name

cytoplasmic polyadenylation element binding protein 2

Synonyms

A630055H10Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9460 (G1)

Quality Score

50.0072

Status

Validated

Chromosome

Chromosomal Location

43390513-43447067 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 43390769 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	C	T	17: 57,183,316 (GRCm39)	T19I	probably damaging	Het
Alg1	T	A	16: 5,060,425 (GRCm39)	M382K	probably damaging	Het
Arhgap17	A	G	7: 122,879,286 (GRCm39)	S822P	unknown	Het
Bend7	A	C	2: 4,749,302 (GRCm39)	T140P	probably benign	Het
C1rb	T	G	6: 124,557,865 (GRCm39)	D667E	probably benign	Het
Carmil1	A	G	13: 24,253,750 (GRCm39)	C794R	probably damaging	Het
Cd36	T	C	5: 18,000,608 (GRCm39)	D365G	probably null	Het
Cep164	T	C	9: 45,685,282 (GRCm39)	N825S	probably benign	Het
Cp	T	C	3: 20,018,566 (GRCm39)	L90P		Het
Cramp1	A	G	17: 25,222,281 (GRCm39)	S146P	probably damaging	Het
Csmd3	A	T	15: 47,617,130 (GRCm39)	D1019E		Het
Cyp2d10	T	A	15: 82,289,470 (GRCm39)	D214V	probably benign	Het
Dcaf17	G	C	2: 70,917,695 (GRCm39)	V406L	possibly damaging	Het
Ehmt1	A	G	2: 24,728,791 (GRCm39)	V703A	probably benign	Het
Ermp1	A	C	19: 29,609,916 (GRCm39)	V293G	probably benign	Het
Fancd2os	C	A	6: 113,574,569 (GRCm39)	V146F	probably benign	Het
Galnt12	C	T	4: 47,117,983 (GRCm39)	T426I	probably damaging	Het
Gm11011	T	A	2: 169,429,289 (GRCm39)	T44S	unknown	Het
Gm2832	C	T	14: 41,000,843 (GRCm39)	T27I		Het
Klhl32	A	G	4: 24,649,866 (GRCm39)	V310A	probably benign	Het
Kntc1	T	A	5: 123,941,378 (GRCm39)	C1728*	probably null	Het
Lama2	T	A	10: 27,298,475 (GRCm39)	N207I	probably damaging	Het
Lpar5	A	G	6: 125,058,234 (GRCm39)		probably benign	Het
Map3k8	T	C	18: 4,349,277 (GRCm39)	I14V	probably benign	Het
Marf1	A	T	16: 13,947,526 (GRCm39)	V1151E	probably damaging	Het
Me1	G	A	9: 86,495,685 (GRCm39)	A274V	probably damaging	Het
Mybpc1	A	T	10: 88,372,197 (GRCm39)	I797N	probably damaging	Het
Myo15a	T	A	11: 60,372,566 (GRCm39)		probably null	Het
N4bp2	A	T	5: 65,963,886 (GRCm39)	D645V	probably benign	Het
Nlrp4f	G	T	13: 65,342,006 (GRCm39)	D546E	possibly damaging	Het
Npc1	T	C	18: 12,346,398 (GRCm39)	D266G	possibly damaging	Het
Or4a81	G	A	2: 89,618,778 (GRCm39)	S306L	probably benign	Het
Or8k16	A	G	2: 85,520,359 (GRCm39)	I195M	probably benign	Het
Pcdha12	C	T	18: 37,153,574 (GRCm39)	R98W	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigr	T	C	1: 130,772,403 (GRCm39)	I207T	probably damaging	Het
Plxnc1	T	A	10: 94,700,895 (GRCm39)	E596D	probably benign	Het
Polr1e	C	T	4: 45,018,691 (GRCm39)	P7L	probably benign	Het
Ppp5c	G	T	7: 16,741,137 (GRCm39)	Y313*	probably null	Het
Sacs	C	A	14: 61,441,611 (GRCm39)	T1219K	probably benign	Het
Scn3a	A	G	2: 65,300,535 (GRCm39)	V1277A	probably damaging	Het
Serinc5	G	T	13: 92,844,607 (GRCm39)	A450S	possibly damaging	Het
Serinc5	T	C	13: 92,844,619 (GRCm39)	C454R	probably benign	Het
Slc12a6	G	A	2: 112,183,280 (GRCm39)	V771I	probably benign	Het
Slc4a1ap	T	C	5: 31,685,463 (GRCm39)	I247T	probably benign	Het
Snx10	T	A	6: 51,565,888 (GRCm39)	S184R	probably damaging	Het
Tgm2	A	T	2: 157,971,241 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Thsd7b	T	C	1: 130,090,674 (GRCm39)		probably null	Het
Tiam2	G	A	17: 3,487,585 (GRCm39)	G702E	probably damaging	Het
Tmco4	T	A	4: 138,747,387 (GRCm39)	V212D	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vipas39	A	G	12: 87,288,021 (GRCm39)	L482P	probably damaging	Het
Vmn1r5	T	A	6: 56,962,829 (GRCm39)	M168K		Het
Vps13c	T	C	9: 67,837,904 (GRCm39)	L1818S	possibly damaging	Het
Vwa2	A	G	19: 56,886,388 (GRCm39)	I152V	probably benign	Het
Zfp180	G	A	7: 23,804,399 (GRCm39)	G273R	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
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
R9744:Cpeb2	UTSW	5	43,391,268 (GRCm39)	missense
Z1176:Cpeb2	UTSW	5	43,392,060 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACGTTCCGGGGTTCTTAAG -3'
(R):5'- GACTCGGTTTGAAGTCCTGG -3'

Sequencing Primer
(F):5'- TTCTTAAGCGGCGAGGGC -3'
(R):5'- AGTAGCTCATCCTGCACGG -3'

Posted On

2022-11-16