Mutagenetix > Incidental Mutation

Incidental Mutation 'R5256:Cpeb1'

399648

Institutional Source

Beutler Lab

Gene Symbol

Cpeb1

Ensembl Gene

ENSMUSG00000025586

Gene Name

cytoplasmic polyadenylation element binding protein 1

Synonyms

MMRRC Submission

042827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80996774-81105207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81001587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 440 (M440K)

Ref Sequence

ENSEMBL: ENSMUSP00000137079 (fasta)

Gene Model

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

AlphaFold

P70166

Predicted Effect

probably damaging
Transcript: ENSMUST00000098331
AA Change: M439K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: M439K

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

probably damaging
Transcript: ENSMUST00000130310
AA Change: M429K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: M429K

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: ENSMUST00000136689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152319

Predicted Effect

probably damaging
Transcript: ENSMUST00000178892
AA Change: M440K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: M440K

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

0.1463

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	C	A	4: 108,705,262 (GRCm39)		probably benign	Het
Actr1b	T	C	1: 36,739,173 (GRCm39)	H372R	probably benign	Het
Ampd2	C	A	3: 107,986,865 (GRCm39)		probably benign	Het
Anapc4	A	G	5: 53,020,936 (GRCm39)	S612G	probably benign	Het
Arhgef7	T	C	8: 11,850,811 (GRCm39)	L141P	probably damaging	Het
Atl1	A	G	12: 70,006,107 (GRCm39)	D471G	probably damaging	Het
Atrn	A	G	2: 130,787,939 (GRCm39)	D247G	probably benign	Het
Bag1	T	A	4: 40,948,022 (GRCm39)	R61W	probably damaging	Het
Card10	C	T	15: 78,662,451 (GRCm39)	R898H	probably damaging	Het
Cct6b	G	A	11: 82,655,046 (GRCm39)	A3V	probably damaging	Het
Cfap54	A	T	10: 92,770,953 (GRCm39)	L2097*	probably null	Het
Cfap54	T	C	10: 92,880,885 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,554 (GRCm39)	F964L	probably benign	Het
Cog5	A	G	12: 31,936,204 (GRCm39)	T584A	probably benign	Het
Cpa2	T	A	6: 30,547,196 (GRCm39)	N157K	probably damaging	Het
Cracr2a	G	A	6: 127,580,992 (GRCm39)	C56Y	probably damaging	Het
Ddb2	A	C	2: 91,067,073 (GRCm39)	L30R	probably damaging	Het
Dlk1	T	A	12: 109,425,697 (GRCm39)	I190N	probably damaging	Het
Dnaaf4	T	C	9: 72,879,362 (GRCm39)		probably null	Het
Dnajc13	T	A	9: 104,080,528 (GRCm39)	Y851F	possibly damaging	Het
Dop1a	T	A	9: 86,397,381 (GRCm39)	L895Q	probably damaging	Het
F7	G	A	8: 13,080,763 (GRCm39)	C122Y	probably damaging	Het
Frrs1	T	C	3: 116,696,749 (GRCm39)	V573A	possibly damaging	Het
Galnt2l	T	C	8: 122,997,175 (GRCm39)		probably benign	Het
Gm17541	A	T	12: 4,739,672 (GRCm39)		probably benign	Het
Gm5519	A	T	19: 33,800,576 (GRCm39)	H90L	probably damaging	Het
Gm5526	T	A	1: 45,896,569 (GRCm39)		noncoding transcript	Het
Gm5709	A	T	3: 59,509,971 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,385,569 (GRCm39)	V869D	possibly damaging	Het
Grm7	A	T	6: 111,335,182 (GRCm39)	Q531L	probably benign	Het
Hnrnpu	C	A	1: 178,163,458 (GRCm39)	C265F	unknown	Het
Hoxd3	G	A	2: 74,577,211 (GRCm39)	V364I	possibly damaging	Het
Hspb8	T	C	5: 116,547,532 (GRCm39)	D150G	probably damaging	Het
Hydin	C	A	8: 111,313,855 (GRCm39)	N4244K	possibly damaging	Het
Ik	A	G	18: 36,881,926 (GRCm39)	D136G	probably benign	Het
Il11ra1	T	C	4: 41,767,932 (GRCm39)		probably benign	Het
Jph1	T	C	1: 17,161,622 (GRCm39)	I347V	probably benign	Het
Klk1	T	A	7: 43,870,985 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,265,087 (GRCm39)		probably benign	Het
Lnx1	C	T	5: 74,846,315 (GRCm39)	C45Y	probably damaging	Het
Macc1	T	A	12: 119,410,264 (GRCm39)	M344K	possibly damaging	Het
Madcam1	A	G	10: 79,500,779 (GRCm39)	E32G	possibly damaging	Het
Mat2a	T	C	6: 72,411,316 (GRCm39)	D383G	probably benign	Het
Mpst	T	A	15: 78,297,849 (GRCm39)	I289N	probably damaging	Het
Myh6	C	T	14: 55,190,118 (GRCm39)	R1055Q	probably damaging	Het
Myh7	T	C	14: 55,216,965 (GRCm39)	K1131E	probably damaging	Het
Ndrg3	A	T	2: 156,773,125 (GRCm39)		probably benign	Het
Nebl	A	G	2: 17,438,786 (GRCm39)	S209P	probably benign	Het
Nid2	A	G	14: 19,818,276 (GRCm39)		probably null	Het
Nup188	A	T	2: 30,220,761 (GRCm39)	S945C	probably damaging	Het
Or1j21	A	G	2: 36,683,685 (GRCm39)	M146V	probably benign	Het
Or5g23	C	T	2: 85,438,817 (GRCm39)	V146I	probably benign	Het
Or8c11	A	G	9: 38,289,213 (GRCm39)	N12S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Patl2	A	G	2: 121,959,368 (GRCm39)	L32P	probably damaging	Het
Pcdh20	T	A	14: 88,705,813 (GRCm39)	M496L	probably benign	Het
Pdzd2	A	G	15: 12,373,028 (GRCm39)	V2369A	possibly damaging	Het
Pfn2	A	G	3: 57,754,812 (GRCm39)	V31A	probably damaging	Het
Plxna4	T	C	6: 32,228,007 (GRCm39)	N533S	probably benign	Het
Plxnb1	T	C	9: 108,943,661 (GRCm39)	F1916S	probably damaging	Het
Ppp4r3b	T	C	11: 29,138,293 (GRCm39)	F214L	probably benign	Het
Prox1	T	C	1: 189,893,638 (GRCm39)	D269G	probably benign	Het
Rapgef4	T	C	2: 71,864,378 (GRCm39)	F71S	probably damaging	Het
Rft1	A	G	14: 30,383,243 (GRCm39)	I94M	probably benign	Het
S100z	T	C	13: 95,615,127 (GRCm39)	I13V	probably damaging	Het
Serhl	T	A	15: 82,986,835 (GRCm39)	V117E	probably damaging	Het
Shroom1	G	A	11: 53,356,334 (GRCm39)	R336Q	probably benign	Het
Sik3	A	T	9: 46,123,552 (GRCm39)	Q1067L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc28a1	G	A	7: 80,771,869 (GRCm39)	V118M	probably damaging	Het
Slco1a6	T	A	6: 142,078,427 (GRCm39)	I153F	probably benign	Het
Ss18l1	T	C	2: 179,703,735 (GRCm39)	Y323H	unknown	Het
Susd4	G	T	1: 182,719,824 (GRCm39)	A480S	possibly damaging	Het
Syne3	A	T	12: 104,942,139 (GRCm39)	M1K	probably null	Het
Synpo2l	A	T	14: 20,711,082 (GRCm39)	S513T	probably benign	Het
Tat	A	T	8: 110,724,966 (GRCm39)	N388I	probably benign	Het
Tbc1d1	A	G	5: 64,439,352 (GRCm39)	Y619C	probably damaging	Het
Tbk1	G	A	10: 121,406,590 (GRCm39)	T216M	probably damaging	Het
Tns1	C	T	1: 74,034,585 (GRCm39)		probably benign	Het
Trbv5	T	C	6: 41,039,318 (GRCm39)	V9A	possibly damaging	Het
Trpm5	A	G	7: 142,636,040 (GRCm39)	Y575H	probably damaging	Het
Ttn	A	T	2: 76,570,045 (GRCm39)	Y25203*	probably null	Het
Tubb3	C	A	8: 124,148,391 (GRCm39)	D441E	probably benign	Het
Usp33	T	A	3: 152,097,333 (GRCm39)	C850*	probably null	Het
Vdac1	G	A	11: 52,274,905 (GRCm39)		probably null	Het
Vmn1r232	T	C	17: 21,133,846 (GRCm39)	I251M	probably damaging	Het
Vmn2r11	T	G	5: 109,202,658 (GRCm39)	I140L	probably benign	Het
Vmn2r6	A	T	3: 64,464,263 (GRCm39)	N190K	probably benign	Het
Vps51	T	A	19: 6,120,518 (GRCm39)	H465L	probably benign	Het
Zfp318	T	G	17: 46,722,995 (GRCm39)	I1666S	probably benign	Het
Zfp446	C	T	7: 12,713,231 (GRCm39)	R90*	probably null	Het
Zgrf1	T	A	3: 127,396,094 (GRCm39)	F547I	probably damaging	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
R5750:Cpeb1	UTSW	7	81,086,099 (GRCm39)	missense	probably benign	0.01
R5927:Cpeb1	UTSW	7	81,011,428 (GRCm39)	missense	possibly damaging	0.69
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'- AGGAAATGATGATCTGCAGACCTG -3'
(R):5'- CTGCAGTGTCCAAAGCATGTAC -3'

Sequencing Primer
(F):5'- GGTCTCTACACTCCCAAGGGTAAG -3'
(R):5'- TGTCCAAAGCATGTACCCCACTG -3'

Posted On

2016-07-06