Incidental Mutation 'R1174:Cpeb4'
ID99835
Institutional Source Beutler Lab
Gene Symbol Cpeb4
Ensembl Gene ENSMUSG00000020300
Gene Namecytoplasmic polyadenylation element binding protein 4
Synonyms
MMRRC Submission 039247-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.362) question?
Stock #R1174 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location31872211-31935634 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31920472 bp
ZygosityHeterozygous
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]
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: 17,117,582 H214L probably benign Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Actn3 A G 19: 4,864,756 L477P probably damaging Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Alpk1 T A 3: 127,680,810 S515C probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cox4i1 C A 8: 120,674,050 N151K probably benign Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Fes A T 7: 80,377,951 I815N probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm10093 A T 17: 78,492,078 Y166F probably benign Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Lypd6b C T 2: 49,943,597 A83V possibly damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mfsd13a T A 19: 46,374,686 I511N probably benign Het
Mrm3 T C 11: 76,250,024 V286A probably damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Neurl4 T C 11: 69,903,721 probably null Het
Pclo T C 5: 14,677,646 probably benign Het
Pcnt A T 10: 76,393,044 probably null Het
Pik3r4 G T 9: 105,663,174 G754C probably damaging Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Rgs12 T A 5: 34,966,465 C531S probably benign Het
Rin1 C A 19: 5,055,203 Q764K probably benign Het
Robo4 C T 9: 37,413,052 R959W probably damaging Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sos1 A C 17: 80,445,608 Y323* probably null Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Tas2r140 T C 6: 133,054,871 E308G probably benign Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Tle4 C T 19: 14,468,262 V207I probably benign Het
Txlnb A G 10: 17,842,756 N445S probably benign Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vwa1 C T 4: 155,773,266 G25D probably damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Other mutations in Cpeb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Cpeb4 APN 11 31873204 missense probably damaging 1.00
IGL02329:Cpeb4 APN 11 31872316 missense possibly damaging 0.94
IGL02396:Cpeb4 APN 11 31925441 missense probably benign 0.38
IGL03304:Cpeb4 APN 11 31872739 missense probably damaging 1.00
FR4304:Cpeb4 UTSW 11 31927638 critical splice acceptor site probably benign
FR4342:Cpeb4 UTSW 11 31927638 critical splice acceptor site probably benign
R3969:Cpeb4 UTSW 11 31872811 missense possibly damaging 0.95
R4005:Cpeb4 UTSW 11 31925390 missense probably damaging 0.96
R4017:Cpeb4 UTSW 11 31924671 missense probably damaging 1.00
R4539:Cpeb4 UTSW 11 31873206 missense probably damaging 1.00
R4580:Cpeb4 UTSW 11 31927757 critical splice donor site probably null
R4978:Cpeb4 UTSW 11 31931509 missense probably null 0.88
R5632:Cpeb4 UTSW 11 31889877 missense probably damaging 1.00
R5809:Cpeb4 UTSW 11 31872801 missense probably damaging 1.00
R6164:Cpeb4 UTSW 11 31920584 critical splice donor site probably null
R6735:Cpeb4 UTSW 11 31924700 missense probably benign 0.19
R6955:Cpeb4 UTSW 11 31908864 missense possibly damaging 0.90
R7312:Cpeb4 UTSW 11 31931417 missense probably damaging 0.98
R7341:Cpeb4 UTSW 11 31918807 missense possibly damaging 0.86
R7382:Cpeb4 UTSW 11 31872828 missense probably damaging 0.97
R7705:Cpeb4 UTSW 11 31872327 missense probably damaging 0.97
R8387:Cpeb4 UTSW 11 31908877 critical splice donor site probably null
RF004:Cpeb4 UTSW 11 31927634 critical splice acceptor site probably benign
Predicted Primers
Posted On2014-01-15