Incidental Mutation 'R4821:Cpeb2'
ID 426188
Institutional Source Beutler Lab
Gene Symbol Cpeb2
Ensembl Gene ENSMUSG00000039782
Gene Name cytoplasmic polyadenylation element binding protein 2
Synonyms A630055H10Rik
MMRRC Submission 042437-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # R4821 (G1)
Quality Score 74
Status Validated
Chromosome 5
Chromosomal Location 43390513-43447067 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 43390817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109700 (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 unknown
Transcript: ENSMUST00000166713
AA Change: F4L
SMART Domains Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: F4L

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 unknown
Transcript: ENSMUST00000169035
AA Change: F4L
SMART Domains Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: F4L

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: ENSMUST00000187911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198754
Meta Mutation Damage Score 0.0685 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (79/79)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,871 (GRCm39) K150R probably damaging Het
Aak1 T C 6: 86,827,171 (GRCm39) V46A probably damaging Het
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Acaca A G 11: 84,185,813 (GRCm39) D116G possibly damaging Het
Adam33 G A 2: 130,903,115 (GRCm39) P43L probably benign Het
Adamtsl2 T A 2: 26,988,604 (GRCm39) probably null Het
Akap13 A G 7: 75,327,255 (GRCm39) probably benign Het
Art1 T A 7: 101,756,385 (GRCm39) L192Q probably damaging Het
Baalc A G 15: 38,796,575 (GRCm39) probably benign Het
Baz2a A G 10: 127,946,978 (GRCm39) E164G probably damaging Het
Bcs1l A G 1: 74,631,144 (GRCm39) I391V probably benign Het
Cacna1c T C 6: 118,673,386 (GRCm39) T497A probably damaging Het
Cap2 C A 13: 46,763,586 (GRCm39) T164N probably damaging Het
Ccdc57 A G 11: 120,751,225 (GRCm39) probably null Het
Ccdc88c T C 12: 100,904,338 (GRCm39) N1120S probably benign Het
Cfap210 T C 2: 69,612,452 (GRCm39) E96G possibly damaging Het
Chd7 T A 4: 8,844,706 (GRCm39) V1605D probably damaging Het
Col12a1 A T 9: 79,622,622 (GRCm39) probably benign Het
Commd3 T C 2: 18,677,339 (GRCm39) S22P probably benign Het
Cpd T C 11: 76,737,063 (GRCm39) I244V probably benign Het
Cyp2c65 A G 19: 39,060,635 (GRCm39) D165G probably damaging Het
Ddx1 T C 12: 13,289,148 (GRCm39) Y152C probably damaging Het
Dennd4a G A 9: 64,804,531 (GRCm39) C1290Y possibly damaging Het
Ebf4 G A 2: 130,148,965 (GRCm39) M232I probably benign Het
Farp2 A G 1: 93,502,192 (GRCm39) probably null Het
Frk T C 10: 34,360,233 (GRCm39) V78A probably benign Het
Gm5799 A G 14: 43,782,098 (GRCm39) D90G probably damaging Het
Gpr45 C G 1: 43,069,613 (GRCm39) probably benign Het
Hfm1 C T 5: 107,002,606 (GRCm39) probably null Het
Igkv4-57-1 T A 6: 69,521,387 (GRCm39) D105V probably damaging Het
Impdh2-ps A G 8: 100,757,995 (GRCm39) noncoding transcript Het
Kctd4 G A 14: 76,200,217 (GRCm39) V63I probably benign Het
Lcn6 T A 2: 25,570,822 (GRCm39) L137M probably damaging Het
Lonrf1 T C 8: 36,687,126 (GRCm39) N737D probably benign Het
Mcu C T 10: 59,303,511 (GRCm39) V109M probably damaging Het
Mecom C A 3: 30,039,500 (GRCm39) K186N probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mybpc1 T C 10: 88,384,727 (GRCm39) D533G probably damaging Het
Nae1 A C 8: 105,246,416 (GRCm39) C294G probably damaging Het
Ncapg2 T G 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkx2-2 A T 2: 147,027,763 (GRCm39) L59Q possibly damaging Het
Nrxn3 C T 12: 90,171,483 (GRCm39) T295I probably damaging Het
Obscn C T 11: 58,897,652 (GRCm39) probably benign Het
Obscn A T 11: 58,931,293 (GRCm39) M5781K probably damaging Het
Or11g24 A G 14: 50,662,206 (GRCm39) T77A possibly damaging Het
Or4k39 T C 2: 111,239,570 (GRCm39) noncoding transcript Het
Or4z4 T A 19: 12,076,110 (GRCm39) M298L probably benign Het
Pcdhb6 C A 18: 37,467,381 (GRCm39) P101T probably damaging Het
Pot1b A G 17: 55,979,885 (GRCm39) S324P possibly damaging Het
Potefam1 T C 2: 111,034,490 (GRCm39) probably null Het
Ppcdc C T 9: 57,342,194 (GRCm39) V43I probably benign Het
Prr13 A T 15: 102,369,120 (GRCm39) probably benign Het
Rab10os T A 12: 3,287,322 (GRCm39) noncoding transcript Het
Rabgap1 T C 2: 37,422,531 (GRCm39) S595P probably damaging Het
Rap1gap T C 4: 137,439,440 (GRCm39) S126P probably damaging Het
Rgs6 A T 12: 83,114,185 (GRCm39) probably null Het
Slc5a6 T A 5: 31,194,228 (GRCm39) K610* probably null Het
Sun5 C T 2: 153,711,386 (GRCm39) V27I probably benign Het
Tmco5b T C 2: 113,120,102 (GRCm39) I126T probably benign Het
Tmed7 G A 18: 46,726,480 (GRCm39) Q92* probably null Het
Trav7d-2 A G 14: 52,921,885 (GRCm39) D98G probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Ush2a T C 1: 188,485,848 (GRCm39) V2986A probably benign Het
Usp33 T C 3: 152,064,310 (GRCm39) V58A probably benign Het
Vmn2r94 T A 17: 18,477,293 (GRCm39) M373L probably benign Het
Ywhaq T C 12: 21,467,512 (GRCm39) probably benign Het
Zbbx G A 3: 74,989,054 (GRCm39) H345Y possibly damaging Het
Zfp346 G T 13: 55,261,626 (GRCm39) probably benign Het
Zfp616 C T 11: 73,975,033 (GRCm39) A434V probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y 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
R4306:Cpeb2 UTSW 5 43,392,578 (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
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'- ACGTTCCGGGGTTCTTAAGC -3'
(R):5'- AGACTCGGTTTGAAGTCCTGG -3'

Sequencing Primer
(F):5'- TTCTTAAGCGGCGAGGGC -3'
(R):5'- AGTAGCTCATCCTGCACGG -3'
Posted On 2016-08-17