Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Cpeb4'

490060

Institutional Source

Beutler Lab

Gene Symbol

Cpeb4

Ensembl Gene

ENSMUSG00000020300

Gene Name

cytoplasmic polyadenylation element binding protein 4

Synonyms

4930447D24Rik

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31822211-31885634 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 31870584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020543] [ENSMUST00000109412] [ENSMUST00000155278]

AlphaFold

Q7TN98

Predicted Effect

probably null
Transcript: ENSMUST00000020543

SMART Domains

Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	83	96	N/A	INTRINSIC
low complexity region	172	183	N/A	INTRINSIC
low complexity region	230	249	N/A	INTRINSIC
low complexity region	281	314	N/A	INTRINSIC
RRM	473	545	4.3e-5	SMART
RRM	581	654	1.11e-2	SMART
PDB:2M13\|A	655	720	3e-7	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000109412

SMART Domains

Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	83	96	N/A	INTRINSIC
low complexity region	172	183	N/A	INTRINSIC
low complexity region	230	249	N/A	INTRINSIC
low complexity region	281	314	N/A	INTRINSIC
RRM	456	528	4.3e-5	SMART
RRM	564	637	1.11e-2	SMART
PDB:2M13\|A	638	703	3e-7	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000155278

SMART Domains

Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300

Domain	Start	End	E-Value	Type
RRM	136	208	4.3e-5	SMART
RRM	244	317	1.11e-2	SMART
PDB:2M13\|A	318	383	2e-7	PDB

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show slightly longer dendritic spines but normal hippocampal synaptic plasticity and memory. Homozygotes for a different null allele show neo- and postnatal lethality, erythropoiesis, suckling and mobility defects, and reduced motor axon branching and NMJ formation. [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
Anpep	A	G	7: 79,491,953 (GRCm39)	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,066,240 (GRCm39)		probably benign	Het
Atp1a2	T	C	1: 172,106,459 (GRCm39)	S848G	probably damaging	Het
Bche	T	A	3: 73,608,389 (GRCm39)	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,713,645 (GRCm39)	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,919,642 (GRCm39)	M416V	probably damaging	Het
Cdk17	T	C	10: 93,071,331 (GRCm39)	S351P	probably benign	Het
Cfap100	T	C	6: 90,392,768 (GRCm39)	E114G	probably benign	Het
Clec4a4	T	C	6: 122,968,833 (GRCm39)	I66T	possibly damaging	Het
Cybrd1	T	C	2: 70,948,618 (GRCm39)	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347 (GRCm39)	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,489 (GRCm39)	I2942L	probably benign	Het
Ehd4	C	T	2: 119,932,689 (GRCm39)	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 64,020,158 (GRCm39)		probably benign	Het
Exoc4	T	A	6: 33,309,218 (GRCm39)	M280K	probably damaging	Het
Fmo1	T	G	1: 162,678,979 (GRCm39)	E89A	probably benign	Het
Foxm1	A	G	6: 128,350,898 (GRCm39)	D733G	probably benign	Het
Garin5b	T	C	7: 4,773,677 (GRCm39)	T73A	probably damaging	Het
Gulp1	A	C	1: 44,793,511 (GRCm39)	R57S	probably damaging	Het
Hdac1-ps	T	C	17: 78,799,716 (GRCm39)	S236P	probably damaging	Het
Hdac4	G	T	1: 91,957,876 (GRCm39)	A46E	probably benign	Het
Hspg2	T	C	4: 137,241,966 (GRCm39)	S567P	possibly damaging	Het
Insyn1	C	A	9: 58,406,530 (GRCm39)	P147T	probably damaging	Het
Iqgap1	A	C	7: 80,458,854 (GRCm39)	C21W	unknown	Het
Isoc2a	T	C	7: 4,894,488 (GRCm39)	L57P	probably damaging	Het
Krt34	G	A	11: 99,929,272 (GRCm39)	Q313*	probably null	Het
Krt6a	C	T	15: 101,601,008 (GRCm39)	V263I	probably damaging	Het
Man2a1	A	G	17: 65,040,719 (GRCm39)	I106V	possibly damaging	Het
Muc16	T	C	9: 18,469,675 (GRCm39)	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,417,082 (GRCm39)	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,618,239 (GRCm39)	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,075,754 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,095,507 (GRCm39)	L795P	probably damaging	Het
Nup160	T	A	2: 90,548,220 (GRCm39)	Y984*	probably null	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or2d3	G	T	7: 106,491,135 (GRCm39)	Y60*	probably null	Het
Or5p52	A	G	7: 107,502,595 (GRCm39)	T224A	probably benign	Het
Osmr	A	G	15: 6,889,833 (GRCm39)	V5A	probably benign	Het
Pabir1	T	A	19: 24,454,450 (GRCm39)	M91L	probably benign	Het
Pcsk5	A	G	19: 17,814,317 (GRCm39)		probably null	Het
Pex11a	G	A	7: 79,387,127 (GRCm39)	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,442,799 (GRCm39)	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715 (GRCm39)		probably benign	Het
Ppp2r2d	T	C	7: 138,474,742 (GRCm39)	I41T	probably damaging	Het
Prdm1	C	T	10: 44,326,191 (GRCm39)	R126H	probably damaging	Het
Primpol	C	T	8: 47,039,477 (GRCm39)	R381H	probably benign	Het
Prl7a1	C	A	13: 27,821,626 (GRCm39)	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,252,799 (GRCm39)	L284P	probably damaging	Het
Rgs21	A	T	1: 144,417,035 (GRCm39)	C6S	probably benign	Het
Rnasel	T	C	1: 153,630,138 (GRCm39)	V218A	probably benign	Het
Sag	G	T	1: 87,752,175 (GRCm39)	V223L	probably damaging	Het
Sdk1	C	T	5: 142,117,824 (GRCm39)	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,833,896 (GRCm39)	V679M	probably damaging	Het
Sele	T	A	1: 163,879,386 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,990,117 (GRCm39)	L622M	probably damaging	Het
Sgo1	G	A	17: 53,983,981 (GRCm39)	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,863,590 (GRCm39)	V866L	probably benign	Het
Snrnp25	T	A	11: 32,157,647 (GRCm39)	V75D	probably benign	Het
Syne1	C	T	10: 5,011,429 (GRCm39)	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,264,007 (GRCm39)	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,903,040 (GRCm39)	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,008,329 (GRCm39)	R235*	probably null	Het
Wnk4	C	T	11: 101,165,894 (GRCm39)	A807V	possibly damaging	Het

Other mutations in Cpeb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Cpeb4	APN	11	31,823,204 (GRCm39)	missense	probably damaging	1.00
IGL02329:Cpeb4	APN	11	31,822,316 (GRCm39)	missense	possibly damaging	0.94
IGL02396:Cpeb4	APN	11	31,875,441 (GRCm39)	missense	probably benign	0.38
IGL03304:Cpeb4	APN	11	31,822,739 (GRCm39)	missense	probably damaging	1.00
FR4304:Cpeb4	UTSW	11	31,877,638 (GRCm39)	critical splice acceptor site	probably benign
FR4342:Cpeb4	UTSW	11	31,877,638 (GRCm39)	critical splice acceptor site	probably benign
R1174:Cpeb4	UTSW	11	31,870,472 (GRCm39)	missense	probably damaging	0.96
R3969:Cpeb4	UTSW	11	31,822,811 (GRCm39)	missense	possibly damaging	0.95
R4005:Cpeb4	UTSW	11	31,875,390 (GRCm39)	missense	probably damaging	0.96
R4017:Cpeb4	UTSW	11	31,874,671 (GRCm39)	missense	probably damaging	1.00
R4539:Cpeb4	UTSW	11	31,823,206 (GRCm39)	missense	probably damaging	1.00
R4580:Cpeb4	UTSW	11	31,877,757 (GRCm39)	critical splice donor site	probably null
R4978:Cpeb4	UTSW	11	31,881,509 (GRCm39)	missense	probably null	0.88
R5632:Cpeb4	UTSW	11	31,839,877 (GRCm39)	missense	probably damaging	1.00
R5809:Cpeb4	UTSW	11	31,822,801 (GRCm39)	missense	probably damaging	1.00
R6735:Cpeb4	UTSW	11	31,874,700 (GRCm39)	missense	probably benign	0.19
R6955:Cpeb4	UTSW	11	31,858,864 (GRCm39)	missense	possibly damaging	0.90
R7312:Cpeb4	UTSW	11	31,881,417 (GRCm39)	missense	probably damaging	0.98
R7341:Cpeb4	UTSW	11	31,868,807 (GRCm39)	missense	possibly damaging	0.86
R7382:Cpeb4	UTSW	11	31,822,828 (GRCm39)	missense	probably damaging	0.97
R7705:Cpeb4	UTSW	11	31,822,327 (GRCm39)	missense	probably damaging	0.97
R8387:Cpeb4	UTSW	11	31,858,877 (GRCm39)	critical splice donor site	probably null
R8815:Cpeb4	UTSW	11	31,870,546 (GRCm39)	missense	probably damaging	0.99
R9098:Cpeb4	UTSW	11	31,822,679 (GRCm39)	missense	probably benign	0.19
RF004:Cpeb4	UTSW	11	31,877,634 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTCTTCATTGTTTCCGATGG -3'
(R):5'- CCCATTGAATTTGGACCTCAGC -3'

Sequencing Primer
(F):5'- CATTGTTTCCGATGGAAGATGGATTC -3'
(R):5'- TGCAGCCAATCTTACCGTAG -3'

Posted On

2017-10-10