Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Cpeb3'

214732

Institutional Source

Beutler Lab

Gene Symbol

Cpeb3

Ensembl Gene

ENSMUSG00000039652

Gene Name

cytoplasmic polyadenylation element binding protein 3

Synonyms

4831444O18Rik

MMRRC Submission

039932-MU

Accession Numbers

Essential gene?

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

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36998691-37186000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37031665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 579 (R579Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116172 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079754
AA Change: R579Q

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

SMART Domains

Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: R579Q

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

possibly damaging
Transcript: ENSMUST00000123727
AA Change: R548Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: R548Q

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 damaging
Transcript: ENSMUST00000124158
AA Change: R278Q

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

SMART Domains

Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: R278Q

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 damaging
Transcript: ENSMUST00000126188
AA Change: R556Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: R556Q

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 damaging
Transcript: ENSMUST00000126781
AA Change: R556Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
AA Change: R556Q

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 damaging
Transcript: ENSMUST00000132580
AA Change: R579Q

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

SMART Domains

Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: R579Q

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 damaging
Transcript: ENSMUST00000136286
AA Change: R562Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: R562Q

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

probably damaging
Transcript: ENSMUST00000154376
AA Change: R579Q

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

SMART Domains

Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: R579Q

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

Meta Mutation Damage Score

0.1343

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly 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
R0580:Cpeb3	UTSW	19	37,151,435 (GRCm39)	missense	probably benign	0.02
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
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'- AGGATACACAGCATTTGGGG -3'
(R):5'- AATGACACTTCATGCAGACCG -3'

Sequencing Primer
(F):5'- GGGAGATTCTCAACCATTAGGCC -3'
(R):5'- GACACTTCATGCAGACCGTATTAAG -3'

Posted On

2014-07-14