Incidental Mutation 'RF004:Cpeb4'
ID 602708
Institutional Source Beutler Lab
Gene Symbol Cpeb4
Ensembl Gene ENSMUSG00000020300
Gene Name cytoplasmic polyadenylation element binding protein 4
Synonyms 4930447D24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # RF004 (G1)
Quality Score 136.457
Status Not validated
Chromosome 11
Chromosomal Location 31822211-31885634 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) ACTCT to ACTCTCT at 31877634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020543] [ENSMUST00000109412] [ENSMUST00000155278]
AlphaFold Q7TN98
Predicted Effect probably benign
Transcript: ENSMUST00000020543
SMART Domains Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 83 96 N/A INTRINSIC
low complexity region 172 183 N/A INTRINSIC
low complexity region 230 249 N/A INTRINSIC
low complexity region 281 314 N/A INTRINSIC
RRM 473 545 4.3e-5 SMART
RRM 581 654 1.11e-2 SMART
PDB:2M13|A 655 720 3e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000109412
SMART Domains Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 83 96 N/A INTRINSIC
low complexity region 172 183 N/A INTRINSIC
low complexity region 230 249 N/A INTRINSIC
low complexity region 281 314 N/A INTRINSIC
RRM 456 528 4.3e-5 SMART
RRM 564 637 1.11e-2 SMART
PDB:2M13|A 638 703 3e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000155278
SMART Domains Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300

DomainStartEndE-ValueType
RRM 136 208 4.3e-5 SMART
RRM 244 317 1.11e-2 SMART
PDB:2M13|A 318 383 2e-7 PDB
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (34/34)
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show slightly longer dendritic spines but normal hippocampal synaptic plasticity and memory. Homozygotes for a different null allele show neo- and postnatal lethality, erythropoiesis, suckling and mobility defects, and reduced motor axon branching and NMJ formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,575,645 (GRCm39) H126L probably benign Het
4930407I10Rik A T 15: 81,943,550 (GRCm39) Q54L possibly damaging Het
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
Adora2a A T 10: 75,168,988 (GRCm39) T151S probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,963 (GRCm39) probably benign Het
Ankrd36 A G 11: 5,612,411 (GRCm39) K1248E possibly damaging Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arl11 T C 14: 61,548,304 (GRCm39) V38A probably damaging Het
Atp2c2 A T 8: 120,479,561 (GRCm39) N726Y probably damaging Het
Bcat1 T C 6: 144,953,349 (GRCm39) K413R probably benign Het
Cd244a C G 1: 171,405,490 (GRCm39) Q292E probably benign Het
Chp1 T A 2: 119,411,195 (GRCm39) D123E probably damaging Het
Ddx6 A G 9: 44,535,789 (GRCm39) T173A possibly damaging Het
Dlg2 T A 7: 90,501,885 (GRCm39) C66S probably benign Het
Dnah2 T A 11: 69,328,013 (GRCm39) Q3370L probably benign Het
Dnmt1 GCACAGTTCCTACCTCGTT GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT 9: 20,821,423 (GRCm39) probably null Het
Dop1a T C 9: 86,436,244 (GRCm39) V2420A probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,118 (GRCm39) probably benign Het
Igkv6-25 TTGACGGA T 6: 70,192,647 (GRCm39) probably null Het
Iqgap1 G A 7: 80,370,623 (GRCm39) A1582V probably benign Het
Lmnb1 T C 18: 56,864,046 (GRCm39) I217T possibly damaging Het
Mamld1 CAG CAGTAG X: 70,162,437 (GRCm39) probably null Het
Map2k2 A T 10: 80,951,002 (GRCm39) H149L probably benign Het
Med12l CAG CAGAAG 3: 59,183,390 (GRCm39) probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nxph2 G A 2: 23,290,080 (GRCm39) R144Q probably damaging Het
Or2t48 CA C 11: 58,419,983 (GRCm39) probably null Het
Or51f1e T TTAG 7: 102,747,516 (GRCm39) probably null Het
Or51f1e GTTAT GTTATTAT 7: 102,747,512 (GRCm39) Het
Or51f1e AT ATTCT 7: 102,747,515 (GRCm39) probably benign Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or52n20 A G 7: 104,320,248 (GRCm39) E113G probably damaging Het
Or8d2 T C 9: 38,760,114 (GRCm39) F235L probably benign Het
Padi4 A T 4: 140,487,269 (GRCm39) V211E probably damaging Het
Prdm10 A C 9: 31,270,422 (GRCm39) D902A probably damaging Het
Prps1l1 A G 12: 35,035,398 (GRCm39) D171G probably damaging Het
Rasal3 A T 17: 32,610,081 (GRCm39) N1035K probably damaging Het
Rassf6 GGTCCTGTAGAGCAATGGGGATTC GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC 5: 90,756,778 (GRCm39) probably benign Het
Rbm26 A G 14: 105,388,931 (GRCm39) V320A probably damaging Het
S1pr1 A T 3: 115,506,536 (GRCm39) Y19* probably null Het
Slc22a16 A C 10: 40,479,642 (GRCm39) L571F possibly damaging Het
Smarca2 CAGC CAGCCCAAGC 19: 26,608,420 (GRCm39) probably benign Het
Ssx2ip A T 3: 146,132,195 (GRCm39) K219* probably null Het
Trav15-2-dv6-2 AAG AAGCAG 14: 53,887,212 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GAA GAATAA 14: 53,887,211 (GRCm39) probably null Het
Tsen15 A G 1: 152,259,470 (GRCm39) V63A probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Usp54 T A 14: 20,611,368 (GRCm39) E1149D possibly damaging Het
Vmn2r37 A T 7: 9,220,686 (GRCm39) S392R probably damaging Het
Wdr97 GAGGAGGA G 15: 76,247,373 (GRCm39) probably null Het
Zfp663 G T 2: 165,200,363 (GRCm39) H72Q probably benign Het
Zfp683 TGTGG TGTGGTGG 4: 133,786,185 (GRCm39) probably benign Het
Other mutations in Cpeb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Cpeb4 APN 11 31,823,204 (GRCm39) missense probably damaging 1.00
IGL02329:Cpeb4 APN 11 31,822,316 (GRCm39) missense possibly damaging 0.94
IGL02396:Cpeb4 APN 11 31,875,441 (GRCm39) missense probably benign 0.38
IGL03304:Cpeb4 APN 11 31,822,739 (GRCm39) missense probably damaging 1.00
FR4304:Cpeb4 UTSW 11 31,877,638 (GRCm39) critical splice acceptor site probably benign
FR4342:Cpeb4 UTSW 11 31,877,638 (GRCm39) critical splice acceptor site probably benign
R1174:Cpeb4 UTSW 11 31,870,472 (GRCm39) missense probably damaging 0.96
R3969:Cpeb4 UTSW 11 31,822,811 (GRCm39) missense possibly damaging 0.95
R4005:Cpeb4 UTSW 11 31,875,390 (GRCm39) missense probably damaging 0.96
R4017:Cpeb4 UTSW 11 31,874,671 (GRCm39) missense probably damaging 1.00
R4539:Cpeb4 UTSW 11 31,823,206 (GRCm39) missense probably damaging 1.00
R4580:Cpeb4 UTSW 11 31,877,757 (GRCm39) critical splice donor site probably null
R4978:Cpeb4 UTSW 11 31,881,509 (GRCm39) missense probably null 0.88
R5632:Cpeb4 UTSW 11 31,839,877 (GRCm39) missense probably damaging 1.00
R5809:Cpeb4 UTSW 11 31,822,801 (GRCm39) missense probably damaging 1.00
R6164:Cpeb4 UTSW 11 31,870,584 (GRCm39) critical splice donor site probably null
R6735:Cpeb4 UTSW 11 31,874,700 (GRCm39) missense probably benign 0.19
R6955:Cpeb4 UTSW 11 31,858,864 (GRCm39) missense possibly damaging 0.90
R7312:Cpeb4 UTSW 11 31,881,417 (GRCm39) missense probably damaging 0.98
R7341:Cpeb4 UTSW 11 31,868,807 (GRCm39) missense possibly damaging 0.86
R7382:Cpeb4 UTSW 11 31,822,828 (GRCm39) missense probably damaging 0.97
R7705:Cpeb4 UTSW 11 31,822,327 (GRCm39) missense probably damaging 0.97
R8387:Cpeb4 UTSW 11 31,858,877 (GRCm39) critical splice donor site probably null
R8815:Cpeb4 UTSW 11 31,870,546 (GRCm39) missense probably damaging 0.99
R9098:Cpeb4 UTSW 11 31,822,679 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TTGCCTGGAAATACCCTGAG -3'
(R):5'- AAGCTCCTGGAGTATTTCAGC -3'

Sequencing Primer
(F):5'- ATATCCTGTAAGGCTGGGTAAC -3'
(R):5'- AGCTCCTGGAGTATTTCAGCTTAAG -3'
Posted On 2019-12-04