Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Cpeb3'

278401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpeb3

Ensembl Gene

ENSMUSG00000039652

Gene Name

cytoplasmic polyadenylation element binding protein 3

Synonyms

4831444O18Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

36998691-37186000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37065948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 407 (D407G)

Ref Sequence

ENSEMBL: ENSMUSP00000120416 (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 benign
Transcript: ENSMUST00000079754
AA Change: D430G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: D430G

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: D399G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: D399G

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: D129G

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

SMART Domains

Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: D129G

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: D407G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: D407G

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: D407G

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

SMART Domains

Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
AA Change: D407G

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: ENSMUST00000132580
AA Change: D430G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: D430G

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: D413G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: D413G

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: ENSMUST00000154376
AA Change: D430G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: D430G

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,975,972 (GRCm39)	S641T	probably damaging	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Pex7	G	T	10: 19,770,557 (GRCm39)		probably benign	Het
Ptprb	A	T	10: 116,175,341 (GRCm39)	D1112V	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trabd2b	A	G	4: 114,457,153 (GRCm39)	I357V	probably benign	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	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
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
R9748:Cpeb3	UTSW	19	37,151,926 (GRCm39)	missense	probably benign	0.33

Posted On

2015-04-16