Incidental Mutation 'R1723:Cpeb1'
ID 191616
Institutional Source Beutler Lab
Gene Symbol Cpeb1
Ensembl Gene ENSMUSG00000025586
Gene Name cytoplasmic polyadenylation element binding protein 1
Synonyms
MMRRC Submission 039755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1723 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80996774-81105207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81085974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 56 (R56Q)
Ref Sequence ENSEMBL: ENSMUSP00000137079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]
AlphaFold P70166
Predicted Effect probably benign
Transcript: ENSMUST00000098331
AA Change: R56Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: R56Q

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
low complexity region 176 195 N/A INTRINSIC
RRM 311 386 2.6e-4 SMART
RRM_2 430 506 2.7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124937
Predicted Effect probably benign
Transcript: ENSMUST00000130310
AA Change: R51Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: R51Q

DomainStartEndE-ValueType
low complexity region 107 121 N/A INTRINSIC
low complexity region 171 190 N/A INTRINSIC
RRM 306 376 1.35e-1 SMART
RRM 420 496 6.36e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135177
Predicted Effect probably benign
Transcript: ENSMUST00000178892
AA Change: R56Q

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: R56Q

DomainStartEndE-ValueType
Pfam:CEBP1_N 1 307 2.5e-153 PFAM
RRM 312 387 6.25e-2 SMART
RRM 431 507 6.36e-1 SMART
Meta Mutation Damage Score 0.0830 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele are viable and overtly normal but display a developmental arrest of both female and male germ cells at the pachytene stage, defective synaptonemal complex formation, and impaired neuronal synaptic plasticity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G T 6: 85,605,735 (GRCm39) G2462C probably damaging Het
Anapc5 T C 5: 122,937,406 (GRCm39) E464G probably damaging Het
Aoc3 T A 11: 101,227,261 (GRCm39) V378E possibly damaging Het
Atp13a5 T A 16: 29,051,551 (GRCm39) K1152I possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Calcoco1 C A 15: 102,627,988 (GRCm39) G49C probably damaging Het
Cd70 T C 17: 57,453,401 (GRCm39) T88A possibly damaging Het
Dglucy A G 12: 100,808,938 (GRCm39) Y212C probably damaging Het
Dnhd1 C A 7: 105,364,127 (GRCm39) P4160T possibly damaging Het
Ecel1 T C 1: 87,082,143 (GRCm39) D190G probably benign Het
Exoc6b A G 6: 85,046,326 (GRCm39) L21P probably damaging Het
Fam110c A G 12: 31,124,394 (GRCm39) R119G unknown Het
Gask1b T A 3: 79,843,970 (GRCm39) N32K probably benign Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Hpcal4 A G 4: 123,084,532 (GRCm39) I154V probably benign Het
Itgb1 A G 8: 129,452,519 (GRCm39) D728G probably damaging Het
Kdm5d A T Y: 927,753 (GRCm39) D701V probably damaging Het
Kif18a A G 2: 109,133,227 (GRCm39) K448E probably damaging Het
Kif26a T C 12: 112,140,292 (GRCm39) F507S possibly damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrrc43 T A 5: 123,630,276 (GRCm39) probably benign Het
Map3k20 T C 2: 72,219,836 (GRCm39) I256T probably damaging Het
Med29 T A 7: 28,092,130 (GRCm39) probably benign Het
Mob3b A G 4: 34,954,026 (GRCm39) C215R probably damaging Het
Mtf2 T C 5: 108,235,936 (GRCm39) Y87H probably damaging Het
Myo18a G A 11: 77,744,140 (GRCm39) R1834K probably damaging Het
Nlrc4 T A 17: 74,748,903 (GRCm39) D779V probably damaging Het
Or51q1c T C 7: 103,652,518 (GRCm39) F18S probably damaging Het
Otud3 T C 4: 138,625,329 (GRCm39) T242A probably damaging Het
Pcare A T 17: 72,057,373 (GRCm39) F768Y probably damaging Het
Pnliprp1 T A 19: 58,720,574 (GRCm39) M150K possibly damaging Het
Polm T A 11: 5,784,776 (GRCm39) Q227L probably benign Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppfia2 T A 10: 106,751,533 (GRCm39) probably null Het
Rad51 T G 2: 118,954,295 (GRCm39) M168R probably benign Het
Senp2 A G 16: 21,846,792 (GRCm39) T266A probably benign Het
Sfswap A G 5: 129,616,758 (GRCm39) T401A probably benign Het
Slc35a4 C A 18: 36,815,788 (GRCm39) T206K possibly damaging Het
Slc40a1 A G 1: 45,963,921 (GRCm39) S23P probably damaging Het
Spef2 T C 15: 9,614,295 (GRCm39) K1217R probably damaging Het
St18 A C 1: 6,880,909 (GRCm39) probably benign Het
Tdrd6 T C 17: 43,939,218 (GRCm39) D610G possibly damaging Het
Tmem163 C A 1: 127,479,108 (GRCm39) R137L probably damaging Het
Tmem94 T A 11: 115,685,574 (GRCm39) D942E probably damaging Het
Ttn T A 2: 76,580,754 (GRCm39) I23380F possibly damaging Het
Uckl1 T A 2: 181,212,393 (GRCm39) probably null Het
Vav2 T C 2: 27,208,976 (GRCm39) D99G possibly damaging Het
Vmn2r30 T A 7: 7,337,259 (GRCm39) I126F probably benign Het
Zbtb41 A T 1: 139,351,301 (GRCm39) Q138L probably benign Het
Zfp599 T C 9: 22,169,361 (GRCm39) Y37C probably damaging Het
Zfp784 T A 7: 5,038,782 (GRCm39) T259S possibly damaging Het
Zfp954 T C 7: 7,118,837 (GRCm39) S236G probably benign Het
Zng1 A G 19: 24,925,458 (GRCm39) V166A possibly damaging Het
Other mutations in Cpeb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Cpeb1 APN 7 81,021,929 (GRCm39) missense probably benign
IGL01598:Cpeb1 APN 7 81,011,549 (GRCm39) missense probably benign
IGL02214:Cpeb1 APN 7 81,021,805 (GRCm39) missense possibly damaging 0.89
IGL02527:Cpeb1 APN 7 81,009,635 (GRCm39) missense probably damaging 1.00
IGL02878:Cpeb1 APN 7 81,007,074 (GRCm39) missense probably damaging 1.00
IGL03065:Cpeb1 APN 7 81,086,038 (GRCm39) missense probably benign 0.39
IGL03305:Cpeb1 APN 7 81,011,464 (GRCm39) missense probably benign 0.16
PIT4458001:Cpeb1 UTSW 7 80,998,180 (GRCm39) missense probably damaging 1.00
R0391:Cpeb1 UTSW 7 81,011,473 (GRCm39) missense possibly damaging 0.89
R0711:Cpeb1 UTSW 7 81,001,618 (GRCm39) missense probably benign 0.01
R1626:Cpeb1 UTSW 7 81,085,995 (GRCm39) missense probably damaging 1.00
R1902:Cpeb1 UTSW 7 81,021,867 (GRCm39) missense probably benign 0.03
R4614:Cpeb1 UTSW 7 81,086,018 (GRCm39) missense possibly damaging 0.46
R4773:Cpeb1 UTSW 7 81,005,695 (GRCm39) missense probably benign
R5256:Cpeb1 UTSW 7 81,001,587 (GRCm39) missense probably damaging 1.00
R5750:Cpeb1 UTSW 7 81,086,099 (GRCm39) missense probably benign 0.01
R5927:Cpeb1 UTSW 7 81,011,428 (GRCm39) missense possibly damaging 0.69
R6000:Cpeb1 UTSW 7 81,011,428 (GRCm39) missense possibly damaging 0.69
R6526:Cpeb1 UTSW 7 81,011,417 (GRCm39) missense probably benign
R8150:Cpeb1 UTSW 7 81,007,152 (GRCm39) missense probably damaging 0.99
R9608:Cpeb1 UTSW 7 81,021,758 (GRCm39) critical splice donor site probably null
RF005:Cpeb1 UTSW 7 81,011,554 (GRCm39) missense possibly damaging 0.79
X0067:Cpeb1 UTSW 7 81,009,475 (GRCm39) critical splice donor site probably null
Z1176:Cpeb1 UTSW 7 81,009,476 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACTACAGGCAGTCTCCACACATGAG -3'
(R):5'- AGTAGTTGCATGGGAAATGTGCCAG -3'

Sequencing Primer
(F):5'- ACTCAGTGTGCTCTTCACAG -3'
(R):5'- ctgaagttcatgctgttgcc -3'
Posted On 2014-05-14