Mutagenetix > Incidental Mutations

Incidental Mutation 'R7341:Cpeb4'

569874

Institutional Source

Beutler Lab

Gene Symbol

Cpeb4

Ensembl Gene

ENSMUSG00000020300

Gene Name

cytoplasmic polyadenylation element binding protein 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.448) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31872211-31935634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31918807 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 422 (T422I)

Ref Sequence

ENSEMBL: ENSMUSP00000020543 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020543
AA Change: T422I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: T422I

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

possibly damaging
Transcript: ENSMUST00000109412
AA Change: T405I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: T405I

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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam3	T	A	8: 24,687,980	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,556,874	C756S	probably damaging	Het
AI314180	A	T	4: 58,809,415	V1653D	possibly damaging	Het
Arhgap31	C	T	16: 38,712,514		probably null	Het
Ascl4	G	A	10: 85,928,665	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,981,759	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,223,116	L923I	probably damaging	Het
BC067074	G	T	13: 113,318,172	G251C		Het
Birc6	T	A	17: 74,612,074	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,788,857	N3025S	probably benign	Het
Bub1b	C	A	2: 118,636,786	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,577,452	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,280,627	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,526,713	N437K	probably benign	Het
Cdhr2	T	A	13: 54,719,492	L408Q	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Chd1	T	C	17: 15,770,237	S1684P	probably damaging	Het
CN725425	A	G	15: 91,242,670	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,398,678	V66A	probably damaging	Het
Cpd	C	A	11: 76,846,953	R5L	unknown	Het
Cyp1a1	G	T	9: 57,700,824	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,486,954	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,321,750	F122L	probably benign	Het
Drc1	T	A	5: 30,364,468	L728Q	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Ermp1	T	A	19: 29,646,254	H112L	probably benign	Het
Exoc8	T	C	8: 124,896,581	D349G	probably damaging	Het
Fam151a	T	A	4: 106,735,510	M63K	probably benign	Het
Fmo9	C	A	1: 166,676,546	G149V	probably damaging	Het
Fndc8	A	G	11: 82,898,777	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,960,878	V365I	probably benign	Het
Frem2	C	T	3: 53,654,495	G864S	probably damaging	Het
Fstl5	T	A	3: 76,482,397		probably null	Het
Garnl3	T	A	2: 33,034,129	E247V	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gorasp1	T	A	9: 119,937,534		probably benign	Het
Hcar2	T	C	5: 123,864,478	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,299,569	M131I	probably damaging	Het
Kif13a	A	G	13: 46,826,745	V177A	probably damaging	Het
Limch1	C	T	5: 67,034,202	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,819	Y260C	possibly damaging	Het
Lmo7	A	G	14: 101,885,512	N379S	probably benign	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,714,511	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,607,267	Y303H	probably damaging	Het
Mecr	T	G	4: 131,843,675	V58G	probably null	Het
Med12l	T	A	3: 59,042,403	D193E	possibly damaging	Het
Moap1	T	C	12: 102,743,179	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,552,896	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Ndufs5	A	T	4: 123,715,951	C43*	probably null	Het
Oaz2	A	T	9: 65,688,901	D83V		Het
Olfr204	T	A	16: 59,315,149	N86I	possibly damaging	Het
Olfr329-ps	A	T	11: 58,542,707	Y269*	probably null	Het
Palm	A	G	10: 79,816,863	T191A	probably damaging	Het
Pclo	C	A	5: 14,675,836	D1569E	unknown	Het
Ppid	T	A	3: 79,600,297	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,750	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,485,797	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,176,072	T68A	probably benign	Het
Rbm15b	C	T	9: 106,885,047	G641R	probably benign	Het
Rgsl1	A	G	1: 153,793,845	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837	Y98*	probably null	Het
Sfxn3	T	G	19: 45,049,262	N52K	probably benign	Het
Slc17a3	G	T	13: 23,846,884	G182*	probably null	Het
Slc29a3	A	T	10: 60,750,658	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,862,934	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,595,437	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,369,261	S626T	probably benign	Het
Sp5	T	A	2: 70,476,697	L242*	probably null	Het
Spata25	C	G	2: 164,827,662	G143A	probably damaging	Het
Spata6	T	A	4: 111,768,738	Y101*	probably null	Het
Tdp2	T	G	13: 24,832,076	S89A	probably benign	Het
Tlr6	T	C	5: 64,953,629	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,795	I355V	probably benign	Het
Trappc8	A	T	18: 20,852,647	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,766,379	N399S	probably damaging	Het
Ube4b	A	G	4: 149,343,001	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp9y	A	T	Y: 1,315,759		probably null	Het
Vmn2r1	T	C	3: 64,105,456	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,086,247	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,091,945	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,924,244	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,891,460	M442K	possibly damaging	Het
Ydjc	T	C	16: 17,150,898	C234R	probably benign	Het
Zfp72	A	G	13: 74,372,348	Y204H	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
R6164:Cpeb4	UTSW	11	31920584	critical splice donor site	probably null
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
R7382:Cpeb4	UTSW	11	31872828	missense	probably damaging	0.97
R7705:Cpeb4	UTSW	11	31872327	missense	probably damaging	0.97
RF004:Cpeb4	UTSW	11	31927634	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGACCACCACCGTCTAATTTCTTG -3'
(R):5'- GCTAGGAATGTCTAAGAAACGAGTC -3'

Sequencing Primer
(F):5'- TTCTTGATTTTTGATACCTAGACCAG -3'
(R):5'- AGGAGTTAAAAGGACAAATCTTTAGC -3'

Posted On

2019-09-13