Incidental Mutation 'R6000:Cpeb1'
ID 480782
Institutional Source Beutler Lab
Gene Symbol Cpeb1
Ensembl Gene ENSMUSG00000025586
Gene Name cytoplasmic polyadenylation element binding protein 1
Synonyms
MMRRC Submission 044179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6000 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 80996774-81105207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81011428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 171 (D171G)
Ref Sequence ENSEMBL: ENSMUSP00000137079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]
AlphaFold P70166
Predicted Effect possibly damaging
Transcript: ENSMUST00000098331
AA Change: D170G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: D170G

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 possibly damaging
Transcript: ENSMUST00000130310
AA Change: D165G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: D165G

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 noncoding transcript
Transcript: ENSMUST00000151661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153419
Predicted Effect possibly damaging
Transcript: ENSMUST00000178892
AA Change: D171G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: D171G

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 0.0788 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T C 16: 88,556,427 (GRCm39) C214R possibly damaging Het
Ahnak A T 19: 8,990,475 (GRCm39) K3920* probably null Het
Alox12b A G 11: 69,060,394 (GRCm39) D650G probably damaging Het
Amt A T 9: 108,178,684 (GRCm39) Y400F probably benign Het
Ankrd11 A G 8: 123,617,934 (GRCm39) S1973P possibly damaging Het
Aoc1 A T 6: 48,884,573 (GRCm39) T539S probably benign Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Ccdc15 C T 9: 37,227,060 (GRCm39) G292S probably benign Het
Ccdc162 C T 10: 41,437,159 (GRCm39) C287Y possibly damaging Het
Ccn6 T C 10: 39,034,296 (GRCm39) Y102C probably damaging Het
Cdk15 G A 1: 59,328,818 (GRCm39) G244D probably damaging Het
Cep290 T A 10: 100,377,649 (GRCm39) Y1560N probably damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Cic A C 7: 24,971,423 (GRCm39) I385L probably benign Het
Cobl A T 11: 12,319,684 (GRCm39) F231L probably benign Het
Csnk1g2 T A 10: 80,474,778 (GRCm39) V305E probably damaging Het
Cyp2c29 A G 19: 39,296,050 (GRCm39) probably null Het
Dner A T 1: 84,361,650 (GRCm39) M653K possibly damaging Het
Dst T A 1: 34,251,304 (GRCm39) M4311K possibly damaging Het
Ep400 A G 5: 110,831,067 (GRCm39) S2200P unknown Het
Ephb2 A T 4: 136,411,341 (GRCm39) S440T possibly damaging Het
Ercc1 A T 7: 19,081,086 (GRCm39) probably benign Het
Folh1 T A 7: 86,375,142 (GRCm39) N615Y probably benign Het
Gm7298 T C 6: 121,742,038 (GRCm39) Y487H possibly damaging Het
Gucy1b2 A T 14: 62,656,499 (GRCm39) I286N probably benign Het
Hr A G 14: 70,805,273 (GRCm39) D1005G probably damaging Het
Ifrd1 C A 12: 40,266,243 (GRCm39) V117F possibly damaging Het
Ift140 A T 17: 25,255,934 (GRCm39) T210S probably benign Het
Igll1 C A 16: 16,681,805 (GRCm39) probably benign Het
Ino80 G T 2: 119,204,989 (GRCm39) S1512R probably benign Het
Intu A T 3: 40,608,578 (GRCm39) K197* probably null Het
Kdm6b A G 11: 69,294,424 (GRCm39) L1216P unknown Het
Klrb1c T G 6: 128,761,120 (GRCm39) D169A probably damaging Het
Lamp3 T A 16: 19,519,698 (GRCm39) T162S possibly damaging Het
Mapk10 G A 5: 103,114,342 (GRCm39) P319S probably damaging Het
Mapk10 G A 5: 103,114,341 (GRCm39) P319L probably damaging Het
Mical3 T C 6: 120,998,281 (GRCm39) T702A probably benign Het
Mstn C T 1: 53,100,828 (GRCm39) probably benign Het
Nckap1l T C 15: 103,387,242 (GRCm39) S706P probably benign Het
Nckap5l G A 15: 99,324,766 (GRCm39) T579I probably damaging Het
Or13p3 A T 4: 118,567,441 (GRCm39) N279I probably damaging Het
Or4a27 C A 2: 88,559,575 (GRCm39) A123S probably damaging Het
Or8s16 G A 15: 98,211,317 (GRCm39) T38I probably benign Het
Pcdh18 A C 3: 49,708,913 (GRCm39) S801A probably damaging Het
Pde11a A T 2: 75,848,204 (GRCm39) D874E probably damaging Het
Pfdn6 G T 17: 34,158,589 (GRCm39) P62T probably damaging Het
Pkd1l1 A G 11: 8,900,427 (GRCm39) I38T probably benign Het
Prkdc A T 16: 15,647,561 (GRCm39) I3662F possibly damaging Het
Psg26 A T 7: 18,216,617 (GRCm39) L74* probably null Het
Rassf6 A G 5: 90,751,736 (GRCm39) V341A probably damaging Het
Rsad2 C A 12: 26,497,150 (GRCm39) probably null Het
Rwdd3 A G 3: 120,950,162 (GRCm39) Y95H probably damaging Het
Scfd1 A G 12: 51,492,457 (GRCm39) I589V possibly damaging Het
Sgsm1 A T 5: 113,434,704 (GRCm39) I131N probably damaging Het
Tecpr1 A G 5: 144,148,239 (GRCm39) S389P probably benign Het
Tle3 T A 9: 61,281,296 (GRCm39) I29N probably damaging Het
Tmem63c C A 12: 87,103,971 (GRCm39) N73K probably damaging Het
Tpm2 T A 4: 43,518,301 (GRCm39) probably null Het
Trak2 A T 1: 58,950,971 (GRCm39) D405E possibly damaging Het
Ttn C A 2: 76,575,516 (GRCm39) A23380S probably damaging Het
Ttn A T 2: 76,715,495 (GRCm39) probably benign Het
Tub T C 7: 108,628,857 (GRCm39) S391P probably damaging Het
Ush2a G T 1: 187,999,223 (GRCm39) E178* probably null Het
Vamp9 G T 5: 100,089,226 (GRCm39) A164S probably benign Het
Ylpm1 C A 12: 85,044,030 (GRCm39) T256K unknown Het
Zfp1007 A G 5: 109,824,730 (GRCm39) V240A probably benign 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
R1723:Cpeb1 UTSW 7 81,085,974 (GRCm39) missense probably benign 0.29
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
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'- GAGGCACCCCTTTCAATCTC -3'
(R):5'- AGAGGTTAAATCTGCCTTGGG -3'

Sequencing Primer
(F):5'- CTAAGACAGATACTGTAGCATCTTCC -3'
(R):5'- AAGAGGTTATGAGCATTCCTTTTC -3'
Posted On 2017-06-26