Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Cpeb2'

214072

Institutional Source

Beutler Lab

Gene Symbol

Cpeb2

Ensembl Gene

ENSMUSG00000039782

Gene Name

cytoplasmic polyadenylation element binding protein 2

Synonyms

A630055H10Rik

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

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

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43390513-43447067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43434930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 600 (P600Q)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000114065
AA Change: P600Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: P600Q

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 damaging
Transcript: ENSMUST00000114066
AA Change: P211Q

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

SMART Domains

Protein: ENSMUSP00000109700
Gene: ENSMUSG00000039782
AA Change: P211Q

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 damaging
Transcript: ENSMUST00000166713
AA Change: P774Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: P774Q

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: P744Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: P744Q

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

0.2588

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,884,664 (GRCm39)	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,532,089 (GRCm39)	K162T	probably damaging	Het
Abca8b	G	T	11: 109,828,744 (GRCm39)	T1353K	possibly damaging	Het
Abcg3	A	C	5: 105,086,065 (GRCm39)	C565G	probably damaging	Het
Actr3b	G	A	5: 26,034,536 (GRCm39)	V185I	possibly damaging	Het
Akap6	A	T	12: 53,188,635 (GRCm39)	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 4,028,662 (GRCm39)	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,645,233 (GRCm39)	Q771*	probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arrb1	T	C	7: 99,231,504 (GRCm39)		probably benign	Het
Atg2a	C	A	19: 6,295,097 (GRCm39)	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804 (GRCm39)	R617C	possibly damaging	Het
Bicra	T	C	7: 15,721,676 (GRCm39)	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,275,843 (GRCm39)	D167G	possibly damaging	Het
Calr4	T	G	4: 109,103,490 (GRCm39)		probably null	Het
Camsap3	G	T	8: 3,653,922 (GRCm39)	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647 (GRCm39)	S907P	probably damaging	Het
Cdk19	T	A	10: 40,355,776 (GRCm39)		probably benign	Het
Chst14	A	G	2: 118,757,496 (GRCm39)	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,652,774 (GRCm39)	M748V	probably benign	Het
Col7a1	A	G	9: 108,807,956 (GRCm39)	D2552G	unknown	Het
Cyp2a5	C	T	7: 26,538,458 (GRCm39)	R274*	probably null	Het
Dele1	T	C	18: 38,391,395 (GRCm39)	W378R	probably benign	Het
Dexi	A	G	16: 10,360,382 (GRCm39)	F58S	probably damaging	Het
Dlg5	C	A	14: 24,198,368 (GRCm39)	G1522W	probably damaging	Het
Dock2	T	C	11: 34,244,286 (GRCm39)	H1048R	probably benign	Het
Dpp4	T	C	2: 62,175,394 (GRCm39)		probably benign	Het
Dusp10	A	T	1: 183,801,377 (GRCm39)	K381N	possibly damaging	Het
Ercc4	A	G	16: 12,965,651 (GRCm39)	E761G	probably damaging	Het
Ern2	T	C	7: 121,783,065 (GRCm39)		probably benign	Het
Fam83f	A	T	15: 80,576,281 (GRCm39)	T311S	probably damaging	Het
Fat2	T	C	11: 55,153,004 (GRCm39)	D3736G	probably benign	Het
Fgf11	G	T	11: 69,692,279 (GRCm39)	T58K	probably benign	Het
Galntl5	C	G	5: 25,403,530 (GRCm39)	S167*	probably null	Het
Glg1	T	G	8: 111,892,306 (GRCm39)	E846D	probably benign	Het
Grm8	C	A	6: 28,125,894 (GRCm39)	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,533,202 (GRCm39)	D3028E	probably damaging	Het
Htt	A	G	5: 35,064,429 (GRCm39)	I2943V	probably benign	Het
Ift80	T	C	3: 68,825,846 (GRCm39)	K498R	probably benign	Het
Ipo9	A	T	1: 135,327,884 (GRCm39)	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,327,256 (GRCm39)	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,427,762 (GRCm39)		probably benign	Het
Larp1b	T	A	3: 40,918,519 (GRCm39)	D53E	probably benign	Het
Ltf	T	C	9: 110,851,913 (GRCm39)	F117L	possibly damaging	Het
Maml1	A	G	11: 50,156,957 (GRCm39)	L406P	probably damaging	Het
Mnx1	G	A	5: 29,678,955 (GRCm39)	A376V	unknown	Het
Mroh2a	G	A	1: 88,163,098 (GRCm39)	R376H	probably benign	Het
Mrpl4	A	G	9: 20,918,127 (GRCm39)	Y111C	probably damaging	Het
Mto1	T	C	9: 78,368,799 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,553,538 (GRCm39)	M972K	possibly damaging	Het
Nemf	T	C	12: 69,393,152 (GRCm39)	I225V	probably null	Het
Nipal4	T	G	11: 46,041,058 (GRCm39)	D379A	probably damaging	Het
Nktr	A	G	9: 121,577,932 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,104,222 (GRCm39)	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622 (GRCm39)	Y198N	probably damaging	Het
Or4c123	T	C	2: 89,127,014 (GRCm39)	N200S	probably damaging	Het
Or5an10	T	C	19: 12,275,707 (GRCm39)	Y263C	probably damaging	Het
Or8u10	A	T	2: 85,916,064 (GRCm39)	V19D	probably benign	Het
P2rx7	A	G	5: 122,811,799 (GRCm39)	Y370C	probably benign	Het
Piezo1	T	C	8: 123,209,384 (GRCm39)		probably benign	Het
Piezo1	T	C	8: 123,216,305 (GRCm39)	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,946,324 (GRCm39)	L879P	probably benign	Het
Polr2a	A	T	11: 69,634,772 (GRCm39)	I636N	probably damaging	Het
Prex2	G	T	1: 11,232,590 (GRCm39)	E886*	probably null	Het
Proca1	A	T	11: 78,095,847 (GRCm39)	I73F	probably damaging	Het
Prss55	A	T	14: 64,316,839 (GRCm39)	V101E	probably benign	Het
Psg26	T	A	7: 18,212,350 (GRCm39)	H335L	probably benign	Het
Rai1	A	G	11: 60,076,746 (GRCm39)	E270G	probably benign	Het
Reep1	A	G	6: 71,757,781 (GRCm39)	N127D	probably benign	Het
Rims1	G	T	1: 22,498,725 (GRCm39)	P769Q	probably damaging	Het
Robo4	A	T	9: 37,315,366 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,606,222 (GRCm39)	D888E	probably benign	Het
Scamp3	A	G	3: 89,087,567 (GRCm39)	N135D	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema4f	A	G	6: 82,895,010 (GRCm39)	M395T	probably benign	Het
Sgip1	T	C	4: 102,825,534 (GRCm39)		probably null	Het
Sik2	A	T	9: 50,906,974 (GRCm39)		probably benign	Het
Smtn	G	T	11: 3,481,326 (GRCm39)	A223D	possibly damaging	Het
Spen	T	C	4: 141,197,654 (GRCm39)	T3405A	probably benign	Het
Srebf1	A	G	11: 60,094,312 (GRCm39)	L601P	probably damaging	Het
Srsf11	A	T	3: 157,737,217 (GRCm39)		probably benign	Het
Tacc2	T	G	7: 130,225,932 (GRCm39)	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,491,057 (GRCm39)		probably benign	Het
Tgfbr3l	C	A	8: 4,299,600 (GRCm39)	R128S	probably damaging	Het
Thsd1	G	A	8: 22,742,334 (GRCm39)		probably benign	Het
Tlx3	T	C	11: 33,153,072 (GRCm39)	S130G	probably benign	Het
Tmem25	A	T	9: 44,709,513 (GRCm39)		probably null	Het
Trak2	A	T	1: 58,985,495 (GRCm39)	M1K	probably null	Het
Trappc12	C	T	12: 28,796,984 (GRCm39)	E183K	probably damaging	Het
Ubl3	A	G	5: 148,446,090 (GRCm39)	V71A	possibly damaging	Het
Unc50	A	G	1: 37,477,880 (GRCm39)	Y254C	probably damaging	Het
Unkl	T	C	17: 25,448,434 (GRCm39)		probably null	Het
Uso1	T	A	5: 92,349,051 (GRCm39)	S819T	probably benign	Het
Yes1	A	T	5: 32,802,395 (GRCm39)	R103S	probably damaging	Het
Zfp131	A	G	13: 120,228,561 (GRCm39)	V396A	probably damaging	Het
Zfp553	T	C	7: 126,834,826 (GRCm39)	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,162,845 (GRCm39)	N102K	probably benign	Het
Zmynd10	A	T	9: 107,427,236 (GRCm39)	Q288L	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
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'- GCCTAACCCTTTGTTTGACATTAG -3'
(R):5'- ATGGATAGGACTAGAACATGTTTGTCC -3'

Sequencing Primer
(F):5'- AGTATGTTTCACTTAATCGGCATG -3'
(R):5'- CCTTCATATTTCAACAGCTC -3'

Posted On

2014-07-14