Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Cpeb1'

459945

Institutional Source

Beutler Lab

Gene Symbol

Cpeb1

Ensembl Gene

ENSMUSG00000025586

Gene Name

cytoplasmic polyadenylation element binding protein 1

Synonyms

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80996774-81105207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81011428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 171 (D171G)

Ref Sequence

ENSEMBL: ENSMUSP00000137079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]

AlphaFold

P70166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098331
AA Change: D170G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: D170G

Domain	Start	End	E-Value	Type
low complexity region	112	126	N/A	INTRINSIC
low complexity region	176	195	N/A	INTRINSIC
RRM	311	386	2.6e-4	SMART
RRM_2	430	506	2.7e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130310
AA Change: D165G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: D165G

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
low complexity region	171	190	N/A	INTRINSIC
RRM	306	376	1.35e-1	SMART
RRM	420	496	6.36e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153419

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178892
AA Change: D171G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: D171G

Domain	Start	End	E-Value	Type
Pfam:CEBP1_N	1	307	2.5e-153	PFAM
RRM	312	387	6.25e-2	SMART
RRM	431	507	6.36e-1	SMART

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele are viable and overtly normal but display a developmental arrest of both female and male germ cells at the pachytene stage, defective synaptonemal complex formation, and impaired neuronal synaptic plasticity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	probably benign	Het

Other mutations in Cpeb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Cpeb1	APN	7	81,021,929 (GRCm39)	missense	probably benign
IGL01598:Cpeb1	APN	7	81,011,549 (GRCm39)	missense	probably benign
IGL02214:Cpeb1	APN	7	81,021,805 (GRCm39)	missense	possibly damaging	0.89
IGL02527:Cpeb1	APN	7	81,009,635 (GRCm39)	missense	probably damaging	1.00
IGL02878:Cpeb1	APN	7	81,007,074 (GRCm39)	missense	probably damaging	1.00
IGL03065:Cpeb1	APN	7	81,086,038 (GRCm39)	missense	probably benign	0.39
IGL03305:Cpeb1	APN	7	81,011,464 (GRCm39)	missense	probably benign	0.16
PIT4458001:Cpeb1	UTSW	7	80,998,180 (GRCm39)	missense	probably damaging	1.00
R0391:Cpeb1	UTSW	7	81,011,473 (GRCm39)	missense	possibly damaging	0.89
R0711:Cpeb1	UTSW	7	81,001,618 (GRCm39)	missense	probably benign	0.01
R1626:Cpeb1	UTSW	7	81,085,995 (GRCm39)	missense	probably damaging	1.00
R1723:Cpeb1	UTSW	7	81,085,974 (GRCm39)	missense	probably benign	0.29
R1902:Cpeb1	UTSW	7	81,021,867 (GRCm39)	missense	probably benign	0.03
R4614:Cpeb1	UTSW	7	81,086,018 (GRCm39)	missense	possibly damaging	0.46
R4773:Cpeb1	UTSW	7	81,005,695 (GRCm39)	missense	probably benign
R5256:Cpeb1	UTSW	7	81,001,587 (GRCm39)	missense	probably damaging	1.00
R5750:Cpeb1	UTSW	7	81,086,099 (GRCm39)	missense	probably benign	0.01
R6000:Cpeb1	UTSW	7	81,011,428 (GRCm39)	missense	possibly damaging	0.69
R6526:Cpeb1	UTSW	7	81,011,417 (GRCm39)	missense	probably benign
R8150:Cpeb1	UTSW	7	81,007,152 (GRCm39)	missense	probably damaging	0.99
R9608:Cpeb1	UTSW	7	81,021,758 (GRCm39)	critical splice donor site	probably null
RF005:Cpeb1	UTSW	7	81,011,554 (GRCm39)	missense	possibly damaging	0.79
X0067:Cpeb1	UTSW	7	81,009,475 (GRCm39)	critical splice donor site	probably null
Z1176:Cpeb1	UTSW	7	81,009,476 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGGCACCCCTTTCAATCTC -3'
(R):5'- AGAGGTTAAATCTGCCTTGGG -3'

Sequencing Primer
(F):5'- CTAAGACAGATACTGTAGCATCTTCC -3'
(R):5'- AAGAGGTTATGAGCATTCCTTTTC -3'

Posted On

2017-02-28