Incidental Mutation 'R3969:Cpeb4'
ID310886
Institutional Source Beutler Lab
Gene Symbol Cpeb4
Ensembl Gene ENSMUSG00000020300
Gene Namecytoplasmic polyadenylation element binding protein 4
Synonyms
MMRRC Submission 040937-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.423) question?
Stock #R3969 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location31872211-31935634 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31872811 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 175 (I175T)
Ref Sequence ENSEMBL: ENSMUSP00000020543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020543] [ENSMUST00000109412] [ENSMUST00000155278]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020543
AA Change: I175T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: I175T

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
AA Change: I175T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: I175T

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
Meta Mutation Damage Score 0.104 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,959,947 K60E probably damaging Het
Arhgef12 C A 9: 43,005,551 R432L probably damaging Het
Armcx6 G T X: 134,749,756 H109N possibly damaging Het
Camk2d G T 3: 126,796,959 C273F possibly damaging Het
Camk4 T A 18: 33,179,581 I258N possibly damaging Het
Chia1 T G 3: 106,121,635 probably null Het
Commd9 C A 2: 101,897,141 N93K probably benign Het
Dnah17 G A 11: 118,041,158 probably benign Het
E2f1 C G 2: 154,564,022 G144R probably damaging Het
Faap100 A T 11: 120,378,705 M1K probably null Het
Fam196b A T 11: 34,419,739 Q481L probably damaging Het
Flna A T X: 74,235,667 V1253E probably damaging Het
Fryl A T 5: 73,112,423 S396R probably damaging Het
Gm12185 A T 11: 48,907,345 C774S probably benign Het
Habp2 A G 19: 56,311,701 Y194C probably damaging Het
Irf5 A T 6: 29,536,782 Q497H probably benign Het
Lama3 A T 18: 12,580,341 K3230M probably damaging Het
Lins1 C T 7: 66,708,198 T27I probably benign Het
Ncstn A C 1: 172,070,009 V439G probably damaging Het
Nlrx1 A T 9: 44,255,425 probably benign Het
Nol8 A T 13: 49,660,016 K162* probably null Het
Olfr836 A G 9: 19,121,660 E232G probably benign Het
Olfr921 A G 9: 38,775,368 T38A probably benign Het
Pabpc5 A G X: 119,928,624 E212G probably benign Het
Pecr G A 1: 72,276,309 T94I probably damaging Het
Piezo2 A T 18: 63,011,696 V2776E probably damaging Het
Pik3r2 G A 8: 70,770,421 R452C probably benign Het
Pole3 G T 4: 62,524,961 N12K possibly damaging Het
Prl2a1 A G 13: 27,806,280 S71G probably benign Het
Rab39 G A 9: 53,686,632 A111V possibly damaging Het
Rb1cc1 T A 1: 6,248,270 probably benign Het
Shroom3 T C 5: 92,940,879 V496A probably benign Het
Slc26a1 A G 5: 108,673,952 S24P probably benign Het
Tspoap1 A T 11: 87,762,446 N113Y probably damaging Het
Usp17lc A T 7: 103,418,419 H307L probably damaging Het
Vmn2r79 T C 7: 87,003,593 W498R probably damaging Het
Vmn2r94 C A 17: 18,258,385 Q33H possibly damaging Het
Wwc2 T C 8: 47,856,323 D808G unknown Het
Ybx2 G A 11: 69,940,416 R84Q probably damaging Het
Zfp462 C T 4: 55,012,402 S308F probably 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
R1174:Cpeb4 UTSW 11 31920472 missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- AATCCAGGGGACAGTTCTTCAG -3'
(R):5'- AGCACTTCTATGTGTGAAAGGTG -3'

Sequencing Primer
(F):5'- TCCAGGGGACAGTTCTTCAGAAAAC -3'
(R):5'- GAGACCTCCTCTGCTGCTGATG -3'
Posted On2015-04-29