Incidental Mutation 'R4306:Cpeb2'
ID 324022
Institutional Source Beutler Lab
Gene Symbol Cpeb2
Ensembl Gene ENSMUSG00000039782
Gene Name cytoplasmic polyadenylation element binding protein 2
Synonyms A630055H10Rik
MMRRC Submission 041092-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # R4306 (G1)
Quality Score 192
Status Validated
Chromosome 5
Chromosomal Location 43390513-43447067 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 43392578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114066] [ENSMUST00000166713] [ENSMUST00000169035]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000114065
SMART Domains Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782

DomainStartEndE-ValueType
low complexity region 3 41 N/A INTRINSIC
RRM 265 337 1.5e-4 SMART
RRM 373 446 1.86e-2 SMART
PDB:2M13|A 447 512 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114066
SMART Domains Protein: ENSMUSP00000109700
Gene: ENSMUSG00000039782

DomainStartEndE-ValueType
low complexity region 3 41 N/A INTRINSIC
low complexity region 222 232 N/A INTRINSIC
RRM 273 345 1.5e-4 SMART
RRM 381 454 1.86e-2 SMART
PDB:2M13|A 455 520 1e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140650
SMART Domains Protein: ENSMUSP00000130435
Gene: ENSMUSG00000085720

DomainStartEndE-ValueType
low complexity region 52 66 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166713
SMART Domains Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 53 N/A INTRINSIC
low complexity region 56 79 N/A INTRINSIC
low complexity region 142 156 N/A INTRINSIC
low complexity region 161 177 N/A INTRINSIC
low complexity region 178 199 N/A INTRINSIC
low complexity region 204 215 N/A INTRINSIC
low complexity region 245 276 N/A INTRINSIC
low complexity region 279 293 N/A INTRINSIC
low complexity region 342 369 N/A INTRINSIC
low complexity region 375 433 N/A INTRINSIC
low complexity region 451 460 N/A INTRINSIC
low complexity region 471 481 N/A INTRINSIC
low complexity region 489 534 N/A INTRINSIC
RRM 758 830 1.5e-4 SMART
RRM 866 939 1.86e-2 SMART
PDB:2M13|A 940 1005 2e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000169035
SMART Domains Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 53 N/A INTRINSIC
low complexity region 56 79 N/A INTRINSIC
low complexity region 142 156 N/A INTRINSIC
low complexity region 161 177 N/A INTRINSIC
low complexity region 178 199 N/A INTRINSIC
low complexity region 204 215 N/A INTRINSIC
low complexity region 245 276 N/A INTRINSIC
low complexity region 279 293 N/A INTRINSIC
low complexity region 342 369 N/A INTRINSIC
low complexity region 375 433 N/A INTRINSIC
low complexity region 451 460 N/A INTRINSIC
low complexity region 471 481 N/A INTRINSIC
low complexity region 489 534 N/A INTRINSIC
low complexity region 685 695 N/A INTRINSIC
RRM 736 808 1.5e-4 SMART
RRM 844 917 1.86e-2 SMART
PDB:2M13|A 918 983 2e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187911
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (33/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early postnatal lethality, decreased heart rate, and increased parasympathetic signaling leading to increased pulmonary acetylcholine level, bronchoconstriction, severe apnea, and abnormal breathing patterns. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Chrdl2 A G 7: 99,671,229 (GRCm39) T116A probably damaging Het
Chst12 T C 5: 140,510,401 (GRCm39) F343L probably damaging Het
Cyp27b1 A G 10: 126,886,957 (GRCm39) D391G probably benign Het
Dll3 T C 7: 28,001,082 (GRCm39) probably null Het
Dnah7b T A 1: 46,260,932 (GRCm39) I2030N probably damaging Het
Fap C T 2: 62,361,051 (GRCm39) probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Fzd7 T C 1: 59,523,566 (GRCm39) V483A probably damaging Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Gprc6a T C 10: 51,492,735 (GRCm39) H539R probably damaging Het
Irs1 C T 1: 82,265,685 (GRCm39) A844T probably benign Het
Myo1a T G 10: 127,549,950 (GRCm39) S477A probably benign Het
Naga C T 15: 82,221,095 (GRCm39) W67* probably null Het
Or51ah3 G C 7: 103,210,380 (GRCm39) R232T possibly damaging Het
Or51ah3 A T 7: 103,210,379 (GRCm39) R232* probably null Het
Osbpl1a T C 18: 12,952,652 (GRCm39) E87G probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rb1 G A 14: 73,500,135 (GRCm39) T504I probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Slit2 T A 5: 48,460,125 (GRCm39) N1385K possibly damaging Het
Spaca7b T A 8: 11,728,590 (GRCm39) N27I probably damaging Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Trip11 A G 12: 101,853,198 (GRCm39) F465L probably benign Het
Usp31 G A 7: 121,306,152 (GRCm39) P109S possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r71 G T 7: 85,273,360 (GRCm39) D725Y probably damaging Het
Zfp459 T C 13: 67,561,307 (GRCm39) K47R probably damaging Het
Other mutations in Cpeb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Cpeb2 APN 5 43,443,174 (GRCm39) missense probably damaging 0.98
IGL00771:Cpeb2 APN 5 43,394,890 (GRCm39) missense possibly damaging 0.94
IGL00797:Cpeb2 APN 5 43,438,790 (GRCm39) missense probably damaging 1.00
IGL01604:Cpeb2 APN 5 43,436,038 (GRCm39) critical splice donor site probably null
IGL01632:Cpeb2 APN 5 43,394,765 (GRCm39) missense probably benign 0.25
IGL03137:Cpeb2 APN 5 43,419,067 (GRCm39) splice site probably benign
R0125:Cpeb2 UTSW 5 43,395,743 (GRCm39) intron probably benign
R0200:Cpeb2 UTSW 5 43,419,119 (GRCm39) missense possibly damaging 0.57
R0453:Cpeb2 UTSW 5 43,443,056 (GRCm39) splice site probably benign
R1411:Cpeb2 UTSW 5 43,391,113 (GRCm39) unclassified probably benign
R1542:Cpeb2 UTSW 5 43,443,218 (GRCm39) missense probably damaging 1.00
R1563:Cpeb2 UTSW 5 43,443,080 (GRCm39) missense probably damaging 1.00
R1573:Cpeb2 UTSW 5 43,441,273 (GRCm39) splice site probably benign
R1703:Cpeb2 UTSW 5 43,391,181 (GRCm39) unclassified probably benign
R1899:Cpeb2 UTSW 5 43,434,930 (GRCm39) missense probably damaging 1.00
R1942:Cpeb2 UTSW 5 43,392,596 (GRCm39) intron probably benign
R3429:Cpeb2 UTSW 5 43,438,573 (GRCm39) critical splice donor site probably null
R3610:Cpeb2 UTSW 5 43,443,276 (GRCm39) missense probably damaging 0.98
R3848:Cpeb2 UTSW 5 43,394,788 (GRCm39) missense probably damaging 0.97
R4005:Cpeb2 UTSW 5 43,395,755 (GRCm39) intron probably benign
R4667:Cpeb2 UTSW 5 43,391,235 (GRCm39) unclassified probably benign
R4754:Cpeb2 UTSW 5 43,443,200 (GRCm39) missense possibly damaging 0.93
R4821:Cpeb2 UTSW 5 43,390,817 (GRCm39) unclassified probably benign
R4906:Cpeb2 UTSW 5 43,402,005 (GRCm39) missense possibly damaging 0.50
R5237:Cpeb2 UTSW 5 43,443,099 (GRCm39) missense probably damaging 0.99
R6693:Cpeb2 UTSW 5 43,443,255 (GRCm39) missense probably damaging 1.00
R7473:Cpeb2 UTSW 5 43,434,848 (GRCm39) missense
R7825:Cpeb2 UTSW 5 43,394,882 (GRCm39) missense probably damaging 1.00
R8138:Cpeb2 UTSW 5 43,392,352 (GRCm39) missense
R8162:Cpeb2 UTSW 5 43,394,681 (GRCm39) missense
R8735:Cpeb2 UTSW 5 43,438,775 (GRCm39) nonsense probably null
R9062:Cpeb2 UTSW 5 43,391,171 (GRCm39) missense
R9087:Cpeb2 UTSW 5 43,438,461 (GRCm39) missense
R9258:Cpeb2 UTSW 5 43,391,455 (GRCm39) missense
R9374:Cpeb2 UTSW 5 43,391,584 (GRCm39) nonsense probably null
R9460:Cpeb2 UTSW 5 43,390,769 (GRCm39) start gained probably benign
R9744:Cpeb2 UTSW 5 43,391,268 (GRCm39) missense
Z1176:Cpeb2 UTSW 5 43,392,060 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACTCGGAGAACGGCTTCTAC -3'
(R):5'- AGAAGTCGAGAGCACTCCAG -3'

Sequencing Primer
(F):5'- GCTGCCATCGTCCATGAAC -3'
(R):5'- AGAGCACTCCAGCCCGC -3'
Posted On 2015-06-24