Mutagenetix > Incidental Mutation

Incidental Mutation 'R6735:Cpeb4'

530194

Institutional Source

Beutler Lab

Gene Symbol

Cpeb4

Ensembl Gene

ENSMUSG00000020300

Gene Name

cytoplasmic polyadenylation element binding protein 4

Synonyms

4930447D24Rik

MMRRC Submission

044853-MU

Accession Numbers

Essential gene?

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

Stock #

R6735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31822211-31885634 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31874700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 174 (Y174N)

Ref Sequence

ENSEMBL: ENSMUSP00000116753 (fasta)

Gene Model

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

AlphaFold

Q7TN98

Predicted Effect

probably benign
Transcript: ENSMUST00000020543
AA Change: Y511N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: Y511N

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 benign
Transcript: ENSMUST00000109412
AA Change: Y494N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: Y494N

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
AA Change: Y174N

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300
AA Change: Y174N

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,274 (GRCm39)	T265A	probably benign	Het
Adap1	A	T	5: 139,278,900 (GRCm39)	Y127N	probably damaging	Het
Alg8	T	C	7: 97,032,189 (GRCm39)	F246S	probably benign	Het
Alpk1	A	G	3: 127,518,098 (GRCm39)	Y68H	probably damaging	Het
Arhgef5	T	C	6: 43,251,966 (GRCm39)	S906P	probably benign	Het
C9	A	T	15: 6,519,387 (GRCm39)	D408V	probably benign	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Enpp3	A	G	10: 24,683,351 (GRCm39)	Y289H	probably damaging	Het
Erbin	A	T	13: 104,020,718 (GRCm39)	D80E	probably damaging	Het
Fgd6	A	T	10: 93,910,182 (GRCm39)	E829V	possibly damaging	Het
Foxn2	T	G	17: 88,794,223 (GRCm39)	S387A	probably benign	Het
Hapstr1	T	A	16: 8,673,764 (GRCm39)	H230Q	probably benign	Het
Irag2	T	C	6: 145,106,619 (GRCm39)	L201S	probably damaging	Het
Kif13a	A	G	13: 46,906,222 (GRCm39)	S574P	possibly damaging	Het
Lhx6	T	G	2: 35,981,390 (GRCm39)	D67A	probably damaging	Het
Lmbr1l	A	T	15: 98,807,121 (GRCm39)	M220K	probably damaging	Het
Macroh2a2	A	G	10: 61,577,046 (GRCm39)	I274T	probably damaging	Het
Naa35	T	C	13: 59,773,378 (GRCm39)	L111P	probably damaging	Het
Notch2	T	A	3: 98,041,902 (GRCm39)	V1307E	probably damaging	Het
Nts	T	A	10: 102,320,859 (GRCm39)	M77L	probably benign	Het
Or5m11b	A	C	2: 85,805,778 (GRCm39)	S64R	possibly damaging	Het
Pigz	A	G	16: 31,764,361 (GRCm39)	N473S	probably benign	Het
Pkd2	A	G	5: 104,628,195 (GRCm39)	D423G	probably damaging	Het
Plac8	A	G	5: 100,710,485 (GRCm39)		probably null	Het
Ppp2r2b	T	C	18: 42,821,653 (GRCm39)		probably null	Het
Proc	T	C	18: 32,256,701 (GRCm39)	N322S	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Psd3	A	G	8: 68,573,398 (GRCm39)		probably null	Het
Safb	A	G	17: 56,892,169 (GRCm39)		probably benign	Het
Scnn1g	A	G	7: 121,341,486 (GRCm39)	D216G	probably benign	Het
Septin7	A	G	9: 25,215,048 (GRCm39)	E345G	possibly damaging	Het
Sult2a5	A	T	7: 13,398,983 (GRCm39)	K197*	probably null	Het
Suv39h1	C	A	X: 7,929,138 (GRCm39)	R397L	probably damaging	Homo
Thbs4	T	A	13: 92,891,674 (GRCm39)	M814L	possibly damaging	Het
Tmem14a	T	A	1: 21,299,805 (GRCm39)		probably benign	Het
Tmprss11d	C	A	5: 86,457,159 (GRCm39)	A167S	probably damaging	Het
Ttn	C	A	2: 76,629,252 (GRCm39)	C14362F	probably damaging	Het
Usp15	T	C	10: 123,004,272 (GRCm39)	I161V	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,138 (GRCm39)	L134P	probably damaging	Het
Wdr74	A	G	19: 8,713,586 (GRCm39)	E73G	possibly damaging	Het
Zbtb49	A	T	5: 38,358,402 (GRCm39)	M617K	possibly damaging	Het
Zc3h3	G	A	15: 75,628,483 (GRCm39)	T937I	probably benign	Het
Zeb2	C	T	2: 45,000,028 (GRCm39)	V25M	probably null	Het
Zfp108	T	C	7: 23,961,197 (GRCm39)	F596S	probably damaging	Het
Zfyve1	T	A	12: 83,641,618 (GRCm39)	N13Y	possibly damaging	Het
Zswim2	T	C	2: 83,754,105 (GRCm39)	D185G	probably benign	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
R6164:Cpeb4	UTSW	11	31,870,584 (GRCm39)	critical splice donor site	probably null
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'- TGTCCACATTATTCTAGCTACAGG -3'
(R):5'- GTAGCATCTGGAAACATCTTGTG -3'

Sequencing Primer
(F):5'- GACTTCATTACAGCAAAGTGA -3'
(R):5'- CAACAAAAGCTTGTGAAGTC -3'

Posted On

2018-08-01