Mutagenetix > Incidental Mutation

Incidental Mutation 'R0580:Cpeb3'

56410

Institutional Source

Beutler Lab

Gene Symbol

Cpeb3

Ensembl Gene

ENSMUSG00000039652

Gene Name

cytoplasmic polyadenylation element binding protein 3

Synonyms

4831444O18Rik

MMRRC Submission

038770-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R0580 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36998691-37186000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37151435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 314 (T314A)

Ref Sequence

ENSEMBL: ENSMUSP00000120416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079754] [ENSMUST00000123727] [ENSMUST00000124158] [ENSMUST00000126188] [ENSMUST00000126781] [ENSMUST00000128642] [ENSMUST00000131917] [ENSMUST00000132580] [ENSMUST00000154376] [ENSMUST00000136286] [ENSMUST00000142973] [ENSMUST00000133988]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079754
AA Change: T314A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
low complexity region	410	420	N/A	INTRINSIC
RRM	460	532	2.01e-5	SMART
RRM	568	641	1e-2	SMART
PDB:2M13\|A	642	707	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000123727
AA Change: T314A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
RRM	429	501	2.01e-5	SMART
RRM	537	610	1e-2	SMART
PDB:2M13\|A	611	676	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000124158
AA Change: T21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: T21A

Domain	Start	End	E-Value	Type
RRM	159	231	2.01e-5	SMART
RRM	267	340	1e-2	SMART
PDB:2M13\|A	341	406	6e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000126188
AA Change: T314A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
low complexity region	387	397	N/A	INTRINSIC
RRM	437	509	2.01e-5	SMART
RRM	545	618	1e-2	SMART
PDB:2M13\|A	619	684	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000126781
AA Change: T314A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
low complexity region	387	397	N/A	INTRINSIC
RRM	437	509	8.3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128642

SMART Domains

Protein: ENSMUSP00000115038
Gene: ENSMUSG00000039652

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131917

SMART Domains

Protein: ENSMUSP00000123080
Gene: ENSMUSG00000039652

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132580
AA Change: T314A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
low complexity region	410	420	N/A	INTRINSIC
RRM	460	532	2.01e-5	SMART
RRM	568	641	1e-2	SMART
PDB:2M13\|A	642	707	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154376
AA Change: T314A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
low complexity region	410	420	N/A	INTRINSIC
RRM	460	532	2.01e-5	SMART
RRM	568	641	1e-2	SMART
PDB:2M13\|A	642	707	1e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000136286
AA Change: T314A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: T314A

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	168	210	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
RRM	443	515	2.01e-5	SMART
RRM	551	624	1e-2	SMART
PDB:2M13\|A	625	690	1e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180609

Predicted Effect

probably benign
Transcript: ENSMUST00000142973

SMART Domains

Protein: ENSMUSP00000117242
Gene: ENSMUSG00000039652

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133988

SMART Domains

Protein: ENSMUSP00000116749
Gene: ENSMUSG00000039652

Domain	Start	End	E-Value	Type
low complexity region	13	31	N/A	INTRINSIC
low complexity region	54	69	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	162	179	N/A	INTRINSIC

Meta Mutation Damage Score

0.0782

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 93.7%

Validation Efficiency

95% (40/42)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,470 (GRCm39)	D314E	probably damaging	Het
Abcc10	C	T	17: 46,616,882 (GRCm39)		probably null	Het
Adgrg5	T	C	8: 95,663,972 (GRCm39)		probably null	Het
Akap12	A	T	10: 4,304,741 (GRCm39)	D517V	possibly damaging	Het
Arhgap23	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 97,337,362 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,100,215 (GRCm39)	M1L	probably damaging	Het
Carm1	C	T	9: 21,494,880 (GRCm39)	P339S	probably damaging	Het
Chchd3	A	C	6: 32,870,325 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,721,191 (GRCm39)	V520A	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Col10a1	A	G	10: 34,270,948 (GRCm39)	R307G	probably benign	Het
Csmd1	A	T	8: 15,960,528 (GRCm39)	Y3296N	probably damaging	Het
Dtx2	A	T	5: 136,061,180 (GRCm39)	T521S	probably damaging	Het
Ext2	A	T	2: 93,626,070 (GRCm39)	V330E	probably benign	Het
Extl3	A	G	14: 65,313,178 (GRCm39)	L668P	probably damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Grm8	A	G	6: 27,761,370 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,788,539 (GRCm39)	V1763D	probably damaging	Het
Ino80	G	A	2: 119,213,962 (GRCm39)	P1203S	probably damaging	Het
Iqce	A	G	5: 140,651,156 (GRCm39)	F768L	possibly damaging	Het
Kntc1	G	A	5: 123,941,732 (GRCm39)	V1809I	probably benign	Het
Lyzl1	A	C	18: 4,181,134 (GRCm39)	T58P	probably damaging	Het
Mlxipl	A	G	5: 135,152,829 (GRCm39)	T287A	probably benign	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Net1	A	G	13: 3,936,612 (GRCm39)	Y264H	probably damaging	Het
Nnmt	T	C	9: 48,503,600 (GRCm39)	D142G	probably damaging	Het
Nod2	T	A	8: 89,391,034 (GRCm39)	I432N	probably damaging	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or2y1g	T	A	11: 49,171,449 (GRCm39)	I158N	probably damaging	Het
Or6b6	A	G	7: 106,571,447 (GRCm39)	Y35H	probably damaging	Het
Pign	A	C	1: 105,519,419 (GRCm39)	I501S	probably benign	Het
Scgb2b19	A	T	7: 32,977,995 (GRCm39)	S101T	probably benign	Het
Slc7a5	A	T	8: 122,611,855 (GRCm39)	M391K	probably benign	Het
Sptan1	A	G	2: 29,897,587 (GRCm39)	R1217G	probably damaging	Het
Srgap2	A	G	1: 131,277,239 (GRCm39)	V336A	possibly damaging	Het
Srsf11	C	T	3: 157,717,704 (GRCm39)		probably benign	Het
Syt10	A	T	15: 89,711,379 (GRCm39)	D51E	probably benign	Het
Vmn2r96	T	C	17: 18,802,900 (GRCm39)	V270A	probably damaging	Het

Other mutations in Cpeb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Cpeb3	APN	19	37,031,695 (GRCm39)	missense	probably damaging	1.00
IGL01402:Cpeb3	APN	19	37,065,948 (GRCm39)	missense	probably benign	0.01
IGL01404:Cpeb3	APN	19	37,065,948 (GRCm39)	missense	probably benign	0.01
IGL01702:Cpeb3	APN	19	37,103,782 (GRCm39)	missense	possibly damaging	0.85
IGL01811:Cpeb3	APN	19	37,022,008 (GRCm39)	missense	probably damaging	1.00
IGL03036:Cpeb3	APN	19	37,002,348 (GRCm39)	missense	probably damaging	1.00
R1463:Cpeb3	UTSW	19	37,116,500 (GRCm39)	missense	probably benign	0.08
R1572:Cpeb3	UTSW	19	37,116,482 (GRCm39)	missense	probably benign	0.38
R1914:Cpeb3	UTSW	19	37,031,665 (GRCm39)	missense	probably damaging	1.00
R1915:Cpeb3	UTSW	19	37,031,665 (GRCm39)	missense	probably damaging	1.00
R2031:Cpeb3	UTSW	19	37,022,079 (GRCm39)	missense	probably damaging	1.00
R4296:Cpeb3	UTSW	19	37,151,389 (GRCm39)	missense	possibly damaging	0.90
R4528:Cpeb3	UTSW	19	37,116,488 (GRCm39)	missense	possibly damaging	0.85
R4607:Cpeb3	UTSW	19	37,152,239 (GRCm39)	missense	possibly damaging	0.82
R4909:Cpeb3	UTSW	19	37,151,633 (GRCm39)	missense	possibly damaging	0.63
R4909:Cpeb3	UTSW	19	37,152,059 (GRCm39)	missense	probably damaging	1.00
R5240:Cpeb3	UTSW	19	37,151,915 (GRCm39)	missense	probably damaging	0.99
R5985:Cpeb3	UTSW	19	37,064,952 (GRCm39)	missense	probably damaging	1.00
R6179:Cpeb3	UTSW	19	37,065,853 (GRCm39)	missense	probably damaging	1.00
R6309:Cpeb3	UTSW	19	37,022,089 (GRCm39)	missense	possibly damaging	0.87
R6768:Cpeb3	UTSW	19	37,002,432 (GRCm39)	missense	possibly damaging	0.92
R6787:Cpeb3	UTSW	19	37,022,089 (GRCm39)	missense	possibly damaging	0.87
R7102:Cpeb3	UTSW	19	37,152,119 (GRCm39)	missense	probably benign
R7194:Cpeb3	UTSW	19	37,152,152 (GRCm39)	missense	probably benign
R7422:Cpeb3	UTSW	19	37,151,900 (GRCm39)	missense	probably benign	0.13
R7594:Cpeb3	UTSW	19	37,151,551 (GRCm39)	missense	possibly damaging	0.70
R7630:Cpeb3	UTSW	19	37,031,693 (GRCm39)	missense	probably damaging	1.00
R8392:Cpeb3	UTSW	19	37,152,291 (GRCm39)	small deletion	probably benign
R8430:Cpeb3	UTSW	19	37,002,406 (GRCm39)	missense	probably damaging	1.00
R8947:Cpeb3	UTSW	19	37,152,366 (GRCm39)	missense	probably damaging	0.98
R9301:Cpeb3	UTSW	19	37,151,473 (GRCm39)	missense	possibly damaging	0.89
R9748:Cpeb3	UTSW	19	37,151,926 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CCACCCAGATTGGATGGAATGGAC -3'
(R):5'- GGACCATGCTCTTCCAAAACTTCCC -3'

Sequencing Primer
(F):5'- CCGGTGAACCAGAGGATTTG -3'
(R):5'- ATCAgcagcctccaccg -3'

Posted On

2013-07-11