Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Cpeb2'

171802

Institutional Source

Beutler Lab

Gene Symbol

Cpeb2

Ensembl Gene

ENSMUSG00000039782

Gene Name

cytoplasmic polyadenylation element binding protein 2

Synonyms

A630055H10Rik

MMRRC Submission

039581-MU

Accession Numbers

Essential gene?

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

Stock #

R1542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43390513-43447067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43443218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 970 (R970C)

Ref Sequence

ENSEMBL: ENSMUSP00000125857 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000114065
AA Change: R826C

SMART Domains

Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: R826C

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

unknown
Transcript: ENSMUST00000166713
AA Change: R1000C

SMART Domains

Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: R1000C

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 damaging
Transcript: ENSMUST00000169035
AA Change: R970C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: R970C

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,055 (GRCm39)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 57,156,791 (GRCm39)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,454,559 (GRCm39)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,266,286 (GRCm39)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,507,450 (GRCm39)	C112S	probably benign	Het
Als2cl	T	C	9: 110,723,102 (GRCm39)	V602A	probably benign	Het
Angptl2	G	T	2: 33,118,897 (GRCm39)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,127,825 (GRCm39)		probably null	Het
Aqp2	A	C	15: 99,481,723 (GRCm39)	I206L	probably benign	Het
Asap2	A	G	12: 21,315,998 (GRCm39)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,353,525 (GRCm39)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,360,054 (GRCm39)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,321,073 (GRCm39)	H331Y	probably benign	Het
Cd33	A	G	7: 43,181,530 (GRCm39)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,177,680 (GRCm39)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,825,061 (GRCm39)	T867K	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dscaml1	T	A	9: 45,660,738 (GRCm39)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,207,418 (GRCm39)	M621L	probably benign	Het
Elp4	G	T	2: 105,624,954 (GRCm39)	T313N	probably benign	Het
Epas1	T	A	17: 87,131,918 (GRCm39)	I373N	possibly damaging	Het
Etnk1	A	T	6: 143,126,367 (GRCm39)	M71L	probably benign	Het
Fry	C	T	5: 150,328,431 (GRCm39)	T1257I	probably benign	Het
Gm21834	A	G	17: 58,048,946 (GRCm39)	F90S	possibly damaging	Het
Gm8674	T	A	13: 50,054,039 (GRCm39)		noncoding transcript	Het
Gna11	T	C	10: 81,369,162 (GRCm39)	T134A	probably benign	Het
Golga5	C	T	12: 102,440,979 (GRCm39)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,397,067 (GRCm39)	N1007Y	probably damaging	Het
H3c6	A	G	13: 23,746,338 (GRCm39)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,196,153 (GRCm39)	V253M	possibly damaging	Het
Insl5	A	T	4: 102,875,382 (GRCm39)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,395,320 (GRCm39)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,781,012 (GRCm39)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,566,352 (GRCm39)	D392N	probably null	Het
Lrp1b	G	T	2: 41,013,724 (GRCm39)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,454,793 (GRCm39)	L1399P	probably damaging	Het
Mbtps1	A	C	8: 120,272,986 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,661,981 (GRCm39)	S330T	probably benign	Het
Mical2	T	C	7: 111,908,675 (GRCm39)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,922,102 (GRCm39)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm39)	V48L	possibly damaging	Het
Napsa	A	T	7: 44,231,113 (GRCm39)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,147,623 (GRCm39)		probably null	Het
Nup62	A	G	7: 44,479,353 (GRCm39)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,964,318 (GRCm39)	W1301R	probably damaging	Het
Oprm1	G	T	10: 6,738,960 (GRCm39)	W29L	probably damaging	Het
Or10al2	A	T	17: 37,983,142 (GRCm39)	E76V	probably damaging	Het
Or1l4b	T	A	2: 37,036,978 (GRCm39)	S251R	probably damaging	Het
Or2c1	T	A	16: 3,657,696 (GRCm39)	N286K	probably damaging	Het
Or5w17	A	G	2: 87,583,662 (GRCm39)	V225A	probably damaging	Het
Pals2	A	G	6: 50,175,306 (GRCm39)	Y539C	probably damaging	Het
Pcnt	T	G	10: 76,225,221 (GRCm39)	N1761T	probably benign	Het
Pcnt	C	T	10: 76,237,220 (GRCm39)	M1355I	probably benign	Het
Pde11a	A	T	2: 75,877,199 (GRCm39)	S757T	probably benign	Het
Pde6a	T	A	18: 61,390,116 (GRCm39)	I490N	possibly damaging	Het
Pgap1	A	G	1: 54,531,249 (GRCm39)	V742A	probably benign	Het
Pik3c2b	T	C	1: 133,017,772 (GRCm39)	L915P	probably damaging	Het
Pkd1l1	A	G	11: 8,824,179 (GRCm39)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,050,124 (GRCm39)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,751,402 (GRCm39)	H300N	probably benign	Het
Prpf3	T	A	3: 95,743,782 (GRCm39)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,214,672 (GRCm39)	V914I	probably benign	Het
Rasal2	T	C	1: 157,003,421 (GRCm39)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,314,473 (GRCm39)	V382I	possibly damaging	Het
Rere	T	A	4: 150,700,399 (GRCm39)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,672,988 (GRCm39)	V805E	possibly damaging	Het
Septin10	T	G	10: 59,002,428 (GRCm39)	E162A	probably damaging	Het
Septin12	G	T	16: 4,810,159 (GRCm39)	D125E	probably benign	Het
Serpina6	A	G	12: 103,620,732 (GRCm39)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,200,517 (GRCm39)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,252,928 (GRCm39)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,230,376 (GRCm39)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,404,680 (GRCm39)	I245T	probably damaging	Het
Spink2	G	A	5: 77,354,812 (GRCm39)	T33I	probably damaging	Het
Sptan1	A	G	2: 29,917,139 (GRCm39)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,075,292 (GRCm39)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,957,873 (GRCm39)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,395,840 (GRCm39)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,686,495 (GRCm39)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,191,047 (GRCm39)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,365,426 (GRCm39)		probably null	Het
Tmc1	T	A	19: 20,793,486 (GRCm39)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,020,434 (GRCm39)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 123,342,146 (GRCm39)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,664,519 (GRCm39)	Y953*	probably null	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,034,983 (GRCm39)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,512,520 (GRCm39)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,494,226 (GRCm39)	N272K	possibly damaging	Het
Zfp526	G	A	7: 24,925,687 (GRCm39)	E649K	probably benign	Het
Zswim6	G	A	13: 107,863,769 (GRCm39)		noncoding transcript	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
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
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'- GACACGCCATGTAATCAGCACAGAG -3'
(R):5'- TGCACGTCAGTGTCTTCAGCACAG -3'

Sequencing Primer
(F):5'- CAGAGGCAAACTGCCTTGTG -3'
(R):5'- GTGTCTTCAGCACAGTAAGC -3'

Posted On

2014-04-13