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

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31872211-31935634 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 31920584 bp (GRCm38)

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
6030419C18Rik	C	A	9: 58,499,247	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386		probably benign	Het
Atp1a2	T	C	1: 172,278,892	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469	S351P	probably benign	Het
Cfap100	T	C	6: 90,415,786	E114G	probably benign	Het
Clec4a4	T	C	6: 122,991,874	I66T	possibly damaging	Het
Cybrd1	T	C	2: 71,118,274	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344		probably benign	Het
Exoc4	T	A	6: 33,332,283	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935	D733G	probably benign	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Gulp1	A	C	1: 44,754,351	R57S	probably damaging	Het
Hdac4	G	T	1: 92,030,154	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573	V263I	probably damaging	Het
Man2a1	A	G	17: 64,733,724	I106V	possibly damaging	Het
Muc16	T	C	9: 18,558,379	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410		probably null	Het
Nlrp4c	T	C	7: 6,092,508	L795P	probably damaging	Het
Nup160	T	A	2: 90,717,876	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352	V5A	probably benign	Het
Pcsk5	A	G	19: 17,836,953		probably null	Het
Pex11a	G	A	7: 79,737,379	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392	V218A	probably benign	Het
Sag	G	T	1: 87,824,453	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817		probably null	Het
Senp7	T	A	16: 56,169,754	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068	A807V	possibly damaging	Het

Other mutations in Cpeb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Cpeb4	APN	11	31873204	missense	probably damaging	1.00
IGL02329:Cpeb4	APN	11	31872316	missense	possibly damaging	0.94
IGL02396:Cpeb4	APN	11	31925441	missense	probably benign	0.38
IGL03304:Cpeb4	APN	11	31872739	missense	probably damaging	1.00
FR4304:Cpeb4	UTSW	11	31927638	critical splice acceptor site	probably benign
FR4342:Cpeb4	UTSW	11	31927638	critical splice acceptor site	probably benign
R1174:Cpeb4	UTSW	11	31920472	missense	probably damaging	0.96
R3969:Cpeb4	UTSW	11	31872811	missense	possibly damaging	0.95
R4005:Cpeb4	UTSW	11	31925390	missense	probably damaging	0.96
R4017:Cpeb4	UTSW	11	31924671	missense	probably damaging	1.00
R4539:Cpeb4	UTSW	11	31873206	missense	probably damaging	1.00
R4580:Cpeb4	UTSW	11	31927757	critical splice donor site	probably null
R4978:Cpeb4	UTSW	11	31931509	missense	probably null	0.88
R5632:Cpeb4	UTSW	11	31889877	missense	probably damaging	1.00
R5809:Cpeb4	UTSW	11	31872801	missense	probably damaging	1.00
R6735:Cpeb4	UTSW	11	31924700	missense	probably benign	0.19
R6955:Cpeb4	UTSW	11	31908864	missense	possibly damaging	0.90
R7312:Cpeb4	UTSW	11	31931417	missense	probably damaging	0.98
R7341:Cpeb4	UTSW	11	31918807	missense	possibly damaging	0.86
R7382:Cpeb4	UTSW	11	31872828	missense	probably damaging	0.97
R7705:Cpeb4	UTSW	11	31872327	missense	probably damaging	0.97
R8387:Cpeb4	UTSW	11	31908877	critical splice donor site	probably null
R8815:Cpeb4	UTSW	11	31920546	missense	probably damaging	0.99
R9098:Cpeb4	UTSW	11	31872679	missense	probably benign	0.19
RF004:Cpeb4	UTSW	11	31927634	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