Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Cpeb3'

732367

Institutional Source

Beutler Lab

Gene Symbol

Cpeb3

Ensembl Gene

ENSMUSG00000039652

Gene Name

cytoplasmic polyadenylation element binding protein 3

Synonyms

4831444O18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36998691-37186000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37151926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 150 (V150A)

Ref Sequence

ENSEMBL: ENSMUSP00000078690 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079754
AA Change: V150A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: V150A

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: V150A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: V150A

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

SMART Domains

Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652

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: V150A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: V150A

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

possibly damaging
Transcript: ENSMUST00000126781
AA Change: V150A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
AA Change: V150A

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: V150A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: V150A

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: ENSMUST00000133988
AA Change: V150A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116749
Gene: ENSMUSG00000039652
AA Change: V150A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136286
AA Change: V150A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: V150A

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 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: ENSMUST00000154376
AA Change: V150A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: V150A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,301,068 (GRCm39)	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,628 (GRCm39)	V962I	probably damaging	Het
Ano3	T	A	2: 110,488,640 (GRCm39)	I931F	probably damaging	Het
Anxa2r2	T	A	13: 120,488,200 (GRCm39)	E116D	possibly damaging	Het
Arih1	T	G	9: 59,300,581 (GRCm39)	D555A	possibly damaging	Het
Arsg	A	G	11: 109,381,452 (GRCm39)	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,364,407 (GRCm39)	T567I	probably damaging	Het
Camkk2	G	C	5: 122,872,182 (GRCm39)	R575G	probably benign	Het
Ccdc168	G	T	1: 44,095,824 (GRCm39)	S1758Y	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,461 (GRCm39)	L494M	probably damaging	Het
Cdc7	A	G	5: 107,123,405 (GRCm39)	K317E	possibly damaging	Het
Cfh	A	G	1: 140,090,687 (GRCm39)		probably null	Het
Cp	T	G	3: 20,043,335 (GRCm39)	V1041G	possibly damaging	Het
Cyp7a1	T	A	4: 6,269,216 (GRCm39)	E352V	probably damaging	Het
Dnah9	T	A	11: 65,976,290 (GRCm39)	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,672,761 (GRCm39)	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,007,022 (GRCm39)	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,819,031 (GRCm39)	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,247,730 (GRCm39)	C256S	probably benign	Het
Eif5b	A	G	1: 38,090,241 (GRCm39)	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,414,002 (GRCm39)	M34L	probably benign	Het
Fcrl5	T	G	3: 87,364,469 (GRCm39)	C549W	possibly damaging	Het
Fhod1	G	A	8: 106,058,323 (GRCm39)	A811V	probably damaging	Het
Flcn	C	T	11: 59,692,980 (GRCm39)	S198N	probably benign	Het
Fndc1	T	A	17: 7,991,929 (GRCm39)	H589L	unknown	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Hcn4	C	T	9: 58,730,996 (GRCm39)	R68W	unknown	Het
Igfn1	A	G	1: 135,926,336 (GRCm39)	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,349,496 (GRCm39)	T351A	probably benign	Het
Ildr2	T	C	1: 166,096,889 (GRCm39)	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,324,876 (GRCm39)	C60Y	probably damaging	Het
Jrk	A	G	15: 74,579,225 (GRCm39)	L20P	probably damaging	Het
Kif5c	C	T	2: 49,584,859 (GRCm39)	A194V	probably damaging	Het
Lrp4	C	T	2: 91,316,116 (GRCm39)	L745F	probably damaging	Het
Ly9	A	T	1: 171,428,722 (GRCm39)	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,499,910 (GRCm39)	T185I	possibly damaging	Het
Mprip	A	G	11: 59,656,348 (GRCm39)	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,359,594 (GRCm39)	H150Q	possibly damaging	Het
Mtcl3	A	T	10: 29,024,398 (GRCm39)	D438V	probably damaging	Het
Mturn	A	T	6: 54,665,989 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nckap5	G	A	1: 125,953,939 (GRCm39)	P871L	probably damaging	Het
Ndst3	T	A	3: 123,421,631 (GRCm39)	I401F	probably benign	Het
Nek4	G	A	14: 30,709,114 (GRCm39)	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,667 (GRCm39)	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538 (GRCm39)	Y70C	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Oas1h	A	T	5: 121,005,088 (GRCm39)	N179Y	probably damaging	Het
Or1o11	T	G	17: 37,756,595 (GRCm39)	V61G	probably benign	Het
Or8b39	T	A	9: 37,996,353 (GRCm39)	S74T	probably benign	Het
Otof	T	C	5: 30,540,998 (GRCm39)	D847G	probably damaging	Het
Pak1	C	A	7: 97,547,842 (GRCm39)	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,555 (GRCm39)	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,704,871 (GRCm39)	T355K	possibly damaging	Het
Pramel27	A	G	4: 143,579,892 (GRCm39)	*492W	probably null	Het
Prkcd	A	T	14: 30,320,800 (GRCm39)	F607I	possibly damaging	Het
Prrc2c	A	G	1: 162,535,435 (GRCm39)	S775P	unknown	Het
Prss16	G	T	13: 22,192,504 (GRCm39)	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,836,779 (GRCm39)	D56G	possibly damaging	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rptn	A	G	3: 93,304,761 (GRCm39)	D698G	possibly damaging	Het
Rragc	T	C	4: 123,818,658 (GRCm39)	V291A	possibly damaging	Het
Rras2	A	G	7: 113,716,629 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scyl2	A	C	10: 89,476,794 (GRCm39)	M777R	probably benign	Het
Serhl	G	T	15: 82,998,597 (GRCm39)	V235L	probably benign	Het
Sh2b3	T	C	5: 121,955,874 (GRCm39)	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,093 (GRCm39)	M570V	probably benign	Het
Slamf8	C	T	1: 172,411,800 (GRCm39)	V232M	probably benign	Het
Slc6a21	T	A	7: 44,929,941 (GRCm39)	L143Q	probably damaging	Het
Snx9	T	A	17: 5,949,670 (GRCm39)	D123E	probably benign	Het
Spopfm2	G	A	3: 94,083,155 (GRCm39)	H219Y	probably damaging	Het
Supt6	C	A	11: 78,108,767 (GRCm39)	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,025,304 (GRCm39)	E379D	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tg	A	G	15: 66,719,008 (GRCm39)	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,561,440 (GRCm39)	T1335I	probably benign	Het
Tmem154	T	A	3: 84,573,693 (GRCm39)	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,174,499 (GRCm39)	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,758 (GRCm39)	L365P	probably damaging	Het
Tulp4	T	C	17: 6,291,480 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,142,072 (GRCm39)	S163P	possibly damaging	Het
Usp42	A	T	5: 143,713,533 (GRCm39)		probably null	Het
Vmn2r94	A	G	17: 18,463,989 (GRCm39)	M767T	probably benign	Het
Wasl	A	G	6: 24,619,533 (GRCm39)	V329A	unknown	Het
Wdr62	T	A	7: 29,953,466 (GRCm39)	M635L	possibly damaging	Het
Wee1	G	T	7: 109,721,722 (GRCm39)	E56*	probably null	Het
Zc3h12c	C	T	9: 52,055,231 (GRCm39)	G193S	probably damaging	Het
Zfp236	T	A	18: 82,637,008 (GRCm39)	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,634,751 (GRCm39)	Y319C	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGCTTGCTGGTCATGATG -3'
(R):5'- AACCATGCAGGATGATTTACTGATG -3'

Sequencing Primer
(F):5'- CATGATGGGCTGGTGGC -3'
(R):5'- CCGGGCTTGAGTTTCCATCAG -3'

Posted On

2022-11-14