Incidental Mutation 'R9608:Cpeb1'
ID 724017
Institutional Source Beutler Lab
Gene Symbol Cpeb1
Ensembl Gene ENSMUSG00000025586
Gene Name cytoplasmic polyadenylation element binding protein 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9608 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 80996774-81105207 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 81021758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]
AlphaFold P70166
Predicted Effect probably benign
Transcript: ENSMUST00000098331
SMART Domains Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000130310
SMART Domains Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000178892
SMART Domains Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586

DomainStartEndE-ValueType
Pfam:CEBP1_N 1 307 2.5e-153 PFAM
RRM 312 387 6.25e-2 SMART
RRM 431 507 6.36e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,272,884 (GRCm39) I333N probably damaging Het
Adam2 T C 14: 66,291,279 (GRCm39) N333S probably null Het
Adgrb2 A G 4: 129,907,352 (GRCm39) T955A probably damaging Het
Agxt2 T C 15: 10,400,624 (GRCm39) F476S possibly damaging Het
Asb14 T A 14: 26,634,148 (GRCm39) F451Y probably damaging Het
Atg9a A T 1: 75,161,739 (GRCm39) N602K possibly damaging Het
Atp2a3 T C 11: 72,879,866 (GRCm39) I978T probably benign Het
BC034090 A G 1: 155,099,135 (GRCm39) V550A possibly damaging Het
Bud23 T A 5: 135,086,526 (GRCm39) probably null Het
C1qtnf3 A T 15: 10,952,568 (GRCm39) H10L probably benign Het
Cage1 G C 13: 38,195,371 (GRCm39) I783M possibly damaging Het
Ccdc142 C T 6: 83,084,082 (GRCm39) Q496* probably null Het
Cd163 A C 6: 124,286,163 (GRCm39) K238Q possibly damaging Het
Cdh6 A T 15: 13,064,621 (GRCm39) Y90N probably damaging Het
Cpt2 G T 4: 107,765,341 (GRCm39) P141Q probably damaging Het
Cspg4 T A 9: 56,792,836 (GRCm39) H190Q probably benign Het
Dcst1 T C 3: 89,266,442 (GRCm39) M139V possibly damaging Het
Dennd5a G C 7: 109,520,713 (GRCm39) N381K probably damaging Het
Dera A G 6: 137,813,876 (GRCm39) R299G possibly damaging Het
Dnah2 C T 11: 69,344,888 (GRCm39) G2729R probably null Het
Dnajc11 A G 4: 152,034,978 (GRCm39) E67G possibly damaging Het
Eif2ak3 T A 6: 70,841,511 (GRCm39) C152* probably null Het
Eln T G 5: 134,755,331 (GRCm39) K241Q unknown Het
Exoc6b C T 6: 84,602,106 (GRCm39) probably null Het
Eya1 A T 1: 14,373,029 (GRCm39) I30K probably benign Het
Fbxo39 A G 11: 72,208,101 (GRCm39) K151R probably benign Het
Fer A G 17: 64,214,327 (GRCm39) T87A probably benign Het
Fgf4 A T 7: 144,415,335 (GRCm39) N32Y possibly damaging Het
Fkbp6 G A 5: 135,375,027 (GRCm39) P129S probably damaging Het
Fndc7 C A 3: 108,774,597 (GRCm39) V554F probably damaging Het
Frk G A 10: 34,481,873 (GRCm39) probably null Het
Ghrhr T A 6: 55,357,786 (GRCm39) I139N possibly damaging Het
Gm17175 A T 14: 51,809,099 (GRCm39) M89K probably damaging Het
Gm4787 A T 12: 81,425,086 (GRCm39) N357K probably benign Het
Gpihbp1 G A 15: 75,469,612 (GRCm39) C109Y probably damaging Het
Gps1 T C 11: 120,677,641 (GRCm39) V257A probably benign Het
H2-M3 T C 17: 37,581,159 (GRCm39) S3P probably benign Het
Hmcn1 G A 1: 150,475,303 (GRCm39) P4674L probably damaging Het
Hoxa11 T C 6: 52,222,224 (GRCm39) D159G probably benign Het
Kcnn4 G A 7: 24,083,503 (GRCm39) D395N probably damaging Het
Krt222 T C 11: 99,126,981 (GRCm39) E213G probably damaging Het
Lmcd1 A G 6: 112,306,785 (GRCm39) D319G possibly damaging Het
Ltv1 A G 10: 13,066,440 (GRCm39) F62S probably damaging Het
Man2a1 G T 17: 65,041,953 (GRCm39) R957L probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mrpl45 T G 11: 97,217,687 (GRCm39) V197G probably damaging Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Nek4 T C 14: 30,675,904 (GRCm39) Y73H probably damaging Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Or10q1b A T 19: 13,682,868 (GRCm39) I226F probably damaging Het
Or4k5 A G 14: 50,386,055 (GRCm39) I92T probably benign Het
Or5p68 A G 7: 107,945,513 (GRCm39) L225P probably damaging Het
Pacs1 A G 19: 5,193,862 (GRCm39) S556P probably damaging Het
Pcdh1 C T 18: 38,330,904 (GRCm39) V839M possibly damaging Het
Pcdhb18 T A 18: 37,623,694 (GRCm39) N341K probably damaging Het
Pde6d G A 1: 86,473,424 (GRCm39) T124M possibly damaging Het
Piezo2 T A 18: 63,280,016 (GRCm39) E185V probably benign Het
Pkhd1l1 T C 15: 44,442,029 (GRCm39) V3656A possibly damaging Het
Plcg1 A G 2: 160,597,671 (GRCm39) Y771C probably benign Het
Ppdpf T C 2: 180,829,668 (GRCm39) L41P probably benign Het
Prepl T C 17: 85,376,321 (GRCm39) T578A probably benign Het
Prkdc C A 16: 15,548,334 (GRCm39) L1981M possibly damaging Het
Prkdc T A 16: 15,548,335 (GRCm39) L1981Q probably damaging Het
Rb1cc1 C T 1: 6,318,528 (GRCm39) S649L probably benign Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Sbf1 T A 15: 89,191,808 (GRCm39) probably null Het
Scn1a T C 2: 66,152,687 (GRCm39) I776V probably benign Het
Sec23a G A 12: 59,019,804 (GRCm39) P588S probably benign Het
Slfn5 A G 11: 82,851,830 (GRCm39) D652G possibly damaging Het
Slfn5 C A 11: 82,852,321 (GRCm39) P816T probably benign Het
Smarcad1 C T 6: 65,091,318 (GRCm39) T1013I probably damaging Het
Spidr G A 16: 15,855,474 (GRCm39) T347I probably benign Het
Stx1b A T 7: 127,406,551 (GRCm39) M266K probably damaging Het
Tarm1 A G 7: 3,551,062 (GRCm39) probably benign Het
Tfap2c A T 2: 172,391,764 (GRCm39) K4* probably null Het
Trpm5 A T 7: 142,633,148 (GRCm39) V819E possibly damaging Het
Trrap A G 5: 144,780,128 (GRCm39) T3240A possibly damaging Het
Uqcc2 A T 17: 27,341,709 (GRCm39) V130D probably benign Het
Uspl1 T A 5: 149,151,870 (GRCm39) D1023E probably benign Het
Vinac1 C T 2: 128,878,550 (GRCm39) W1125* probably null Het
Vmn2r28 A T 7: 5,491,220 (GRCm39) H342Q probably benign Het
Vmn2r33 A T 7: 7,557,153 (GRCm39) C516S possibly damaging Het
Vps45 G A 3: 95,940,982 (GRCm39) R420W probably damaging Het
Zfp42 C T 8: 43,749,172 (GRCm39) V110I possibly damaging Het
Zfp467 T A 6: 48,404,776 (GRCm39) K100N unknown Het
Zfyve16 A T 13: 92,636,788 (GRCm39) S1307R probably damaging Het
Other mutations in Cpeb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCTGTATCTGCCTTTACCAGC -3'
(R):5'- TTCCAAAGCAGACTTCCAGGAC -3'

Sequencing Primer
(F):5'- AGCAGTCTCTATCTGTCATGCAAC -3'
(R):5'- GCAGACTTCCAGGACTCTGAAG -3'
Posted On 2022-09-12