Incidental Mutation 'R1174:Cpeb4'
ID 99835
Institutional Source Beutler Lab
Gene Symbol Cpeb4
Ensembl Gene ENSMUSG00000020300
Gene Name cytoplasmic polyadenylation element binding protein 4
Synonyms 4930447D24Rik
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 31822211-31885634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31870472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 432 (L432P)
Ref Sequence ENSEMBL: ENSMUSP00000105039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020543] [ENSMUST00000109412] [ENSMUST00000155278]
AlphaFold Q7TN98
Predicted Effect possibly damaging
Transcript: ENSMUST00000020543
AA Change: L449P

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: L449P

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 damaging
Transcript: ENSMUST00000109412
AA Change: L432P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: L432P

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 possibly damaging
Transcript: ENSMUST00000155278
AA Change: L112P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300
AA Change: L112P

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging 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
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
RF004:Cpeb4 UTSW 11 31,877,634 (GRCm39) critical splice acceptor site probably benign
Predicted Primers
Posted On 2014-01-15