Incidental Mutation 'R9301:Cpeb3'
ID 704982
Institutional Source Beutler Lab
Gene Symbol Cpeb3
Ensembl Gene ENSMUSG00000039652
Gene Name cytoplasmic polyadenylation element binding protein 3
Synonyms 4831444O18Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R9301 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 36998691-37186000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37151473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 301 (V301A)
Ref Sequence ENSEMBL: ENSMUSP00000078690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079754] [ENSMUST00000123727] [ENSMUST00000124158] [ENSMUST00000126188] [ENSMUST00000126781] [ENSMUST00000128642] [ENSMUST00000131917] [ENSMUST00000132580] [ENSMUST00000133988] [ENSMUST00000136286] [ENSMUST00000142973] [ENSMUST00000154376]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000079754
AA Change: V301A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 410 420 N/A INTRINSIC
RRM 460 532 2.01e-5 SMART
RRM 568 641 1e-2 SMART
PDB:2M13|A 642 707 1e-6 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000123727
AA Change: V301A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
RRM 429 501 2.01e-5 SMART
RRM 537 610 1e-2 SMART
PDB:2M13|A 611 676 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000124158
AA Change: V8A

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: V8A

DomainStartEndE-ValueType
RRM 159 231 2.01e-5 SMART
RRM 267 340 1e-2 SMART
PDB:2M13|A 341 406 6e-7 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000126188
AA Change: V301A

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
RRM 437 509 2.01e-5 SMART
RRM 545 618 1e-2 SMART
PDB:2M13|A 619 684 1e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000126781
AA Change: V301A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
RRM 437 509 8.3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128642
SMART Domains Protein: ENSMUSP00000115038
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131917
SMART Domains Protein: ENSMUSP00000123080
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000132580
AA Change: V301A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 410 420 N/A INTRINSIC
RRM 460 532 2.01e-5 SMART
RRM 568 641 1e-2 SMART
PDB:2M13|A 642 707 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000133988
SMART Domains Protein: ENSMUSP00000116749
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 162 179 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000136286
AA Change: V301A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
RRM 443 515 2.01e-5 SMART
RRM 551 624 1e-2 SMART
PDB:2M13|A 625 690 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000142973
SMART Domains Protein: ENSMUSP00000117242
Gene: ENSMUSG00000039652

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000154376
AA Change: V301A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
low complexity region 168 210 N/A INTRINSIC
low complexity region 222 242 N/A INTRINSIC
low complexity region 273 283 N/A INTRINSIC
low complexity region 410 420 N/A INTRINSIC
RRM 460 532 2.01e-5 SMART
RRM 568 641 1e-2 SMART
PDB:2M13|A 642 707 1e-6 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,881,128 (GRCm39) N514K probably benign Het
Adss1 A T 12: 112,602,882 (GRCm39) R358W probably damaging Het
Anxa8 T A 14: 33,819,932 (GRCm39) I307N probably damaging Het
Atad5 T A 11: 79,986,845 (GRCm39) I644N probably damaging Het
Atp5f1a G T 18: 77,868,938 (GRCm39) L437F probably damaging Het
Babam1 A G 8: 71,855,684 (GRCm39) K259R possibly damaging Het
BC048562 T G 9: 108,323,054 (GRCm39) F130V probably damaging Het
Btf3l4b T A 13: 96,217,621 (GRCm39) K73* probably null Het
Camsap2 T A 1: 136,202,640 (GRCm39) probably null Het
Ccne2 A G 4: 11,192,881 (GRCm39) I27M probably benign Het
Cd302 A G 2: 60,082,793 (GRCm39) V177A possibly damaging Het
Cfap46 T C 7: 139,222,461 (GRCm39) K1172R Het
Cic T C 7: 24,991,117 (GRCm39) W2141R probably damaging Het
Cpsf3 A G 12: 21,350,112 (GRCm39) K277R possibly damaging Het
Cstl1 A G 2: 148,592,926 (GRCm39) H27R possibly damaging Het
Dapk1 T A 13: 60,866,125 (GRCm39) I188K possibly damaging Het
Dock6 T C 9: 21,729,111 (GRCm39) T1301A probably benign Het
Eml5 A T 12: 98,848,292 (GRCm39) C133* probably null Het
Ermap T A 4: 119,042,744 (GRCm39) I260F probably damaging Het
Fbxw22 T G 9: 109,215,653 (GRCm39) E198D possibly damaging Het
Flt4 T C 11: 49,516,241 (GRCm39) Y115H possibly damaging Het
Fmo9 A C 1: 166,494,794 (GRCm39) I369S probably damaging Het
Frmd4a T A 2: 4,157,904 (GRCm39) S6T probably benign Het
Golga5 A T 12: 102,443,057 (GRCm39) I330L probably benign Het
Helq C A 5: 100,927,158 (GRCm39) V643F probably damaging Het
Ino80d A T 1: 63,104,969 (GRCm39) L369H probably damaging Het
Kank1 A T 19: 25,388,798 (GRCm39) M824L probably benign Het
Lilrb4b T C 10: 51,356,801 (GRCm39) probably benign Het
Ltbp4 T A 7: 27,021,578 (GRCm39) D1003V probably damaging Het
Mapk8ip2 T C 15: 89,341,886 (GRCm39) S366P probably damaging Het
Mdga1 T C 17: 30,069,512 (GRCm39) H178R probably benign Het
Mlh3 A G 12: 85,292,613 (GRCm39) V1266A possibly damaging Het
Nrp1 A G 8: 129,089,859 (GRCm39) E78G probably damaging Het
Or1l4 A T 2: 37,091,255 (GRCm39) M1L probably benign Het
Or4z4 A T 19: 12,076,826 (GRCm39) M59K probably damaging Het
Or5d16 A G 2: 87,773,297 (GRCm39) V225A probably benign Het
Or8k33 A G 2: 86,383,818 (GRCm39) S217P possibly damaging Het
Ovch2 A G 7: 107,395,815 (GRCm39) S68P probably damaging Het
Pappa2 T A 1: 158,672,614 (GRCm39) I1110F probably damaging Het
Pcyox1 A C 6: 86,369,241 (GRCm39) L195R possibly damaging Het
Pde11a A G 2: 75,848,217 (GRCm39) L870P probably damaging Het
Pgpep1 G A 8: 71,103,418 (GRCm39) T152M probably damaging Het
Pik3c2a A T 7: 115,945,413 (GRCm39) D1464E probably damaging Het
Plcb1 A G 2: 135,167,610 (GRCm39) K468R possibly damaging Het
Postn C T 3: 54,292,659 (GRCm39) T742I probably benign Het
Ppm1j T A 3: 104,691,057 (GRCm39) Y274N probably damaging Het
Ppp2cb T C 8: 34,090,038 (GRCm39) C32R possibly damaging Het
Prmt9 T A 8: 78,282,374 (GRCm39) Y90* probably null Het
Ptk2 T C 15: 73,146,346 (GRCm39) Y441C probably damaging Het
Rabggta T A 14: 55,957,083 (GRCm39) I266L probably benign Het
Rft1 C T 14: 30,398,812 (GRCm39) R261W probably damaging Het
Rsrc1 C T 3: 67,197,680 (GRCm39) A195V probably damaging Het
Rtkn2 T G 10: 67,871,677 (GRCm39) L355R possibly damaging Het
Runx1t1 A T 4: 13,875,477 (GRCm39) D427V possibly damaging Het
Slc15a4 T G 5: 127,673,812 (GRCm39) H534P probably benign Het
Slc16a7 T C 10: 125,066,880 (GRCm39) N253S probably damaging Het
Slc29a1 A G 17: 45,897,063 (GRCm39) S408P probably damaging Het
Slc52a2 G A 15: 76,424,406 (GRCm39) A215T probably damaging Het
Smc1b T A 15: 85,011,995 (GRCm39) I126L probably damaging Het
Sycp2 A T 2: 178,023,650 (GRCm39) N455K probably benign Het
Tbck T C 3: 132,543,738 (GRCm39) V863A probably benign Het
Tfap2c A G 2: 172,395,347 (GRCm39) M263V probably benign Het
Tmem45a A G 16: 56,627,134 (GRCm39) V245A probably damaging Het
Top2a C T 11: 98,897,790 (GRCm39) G759D probably damaging Het
Traf5 A G 1: 191,729,489 (GRCm39) S218P Het
Tsfm T C 10: 126,866,502 (GRCm39) R20G probably benign Het
Ugt2a2 G T 5: 87,608,382 (GRCm39) Q486K probably damaging Het
Usp34 T A 11: 23,422,951 (GRCm39) D3108E Het
Wnt11 A G 7: 98,495,796 (GRCm39) Y100C probably damaging Het
Zbtb49 A G 5: 38,370,931 (GRCm39) C317R probably benign Het
Other mutations in Cpeb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Cpeb3 APN 19 37,031,695 (GRCm39) missense probably damaging 1.00
IGL01402:Cpeb3 APN 19 37,065,948 (GRCm39) missense probably benign 0.01
IGL01404:Cpeb3 APN 19 37,065,948 (GRCm39) missense probably benign 0.01
IGL01702:Cpeb3 APN 19 37,103,782 (GRCm39) missense possibly damaging 0.85
IGL01811:Cpeb3 APN 19 37,022,008 (GRCm39) missense probably damaging 1.00
IGL03036:Cpeb3 APN 19 37,002,348 (GRCm39) missense probably damaging 1.00
R0580:Cpeb3 UTSW 19 37,151,435 (GRCm39) missense probably benign 0.02
R1463:Cpeb3 UTSW 19 37,116,500 (GRCm39) missense probably benign 0.08
R1572:Cpeb3 UTSW 19 37,116,482 (GRCm39) missense probably benign 0.38
R1914:Cpeb3 UTSW 19 37,031,665 (GRCm39) missense probably damaging 1.00
R1915:Cpeb3 UTSW 19 37,031,665 (GRCm39) missense probably damaging 1.00
R2031:Cpeb3 UTSW 19 37,022,079 (GRCm39) missense probably damaging 1.00
R4296:Cpeb3 UTSW 19 37,151,389 (GRCm39) missense possibly damaging 0.90
R4528:Cpeb3 UTSW 19 37,116,488 (GRCm39) missense possibly damaging 0.85
R4607:Cpeb3 UTSW 19 37,152,239 (GRCm39) missense possibly damaging 0.82
R4909:Cpeb3 UTSW 19 37,151,633 (GRCm39) missense possibly damaging 0.63
R4909:Cpeb3 UTSW 19 37,152,059 (GRCm39) missense probably damaging 1.00
R5240:Cpeb3 UTSW 19 37,151,915 (GRCm39) missense probably damaging 0.99
R5985:Cpeb3 UTSW 19 37,064,952 (GRCm39) missense probably damaging 1.00
R6179:Cpeb3 UTSW 19 37,065,853 (GRCm39) missense probably damaging 1.00
R6309:Cpeb3 UTSW 19 37,022,089 (GRCm39) missense possibly damaging 0.87
R6768:Cpeb3 UTSW 19 37,002,432 (GRCm39) missense possibly damaging 0.92
R6787:Cpeb3 UTSW 19 37,022,089 (GRCm39) missense possibly damaging 0.87
R7102:Cpeb3 UTSW 19 37,152,119 (GRCm39) missense probably benign
R7194:Cpeb3 UTSW 19 37,152,152 (GRCm39) missense probably benign
R7422:Cpeb3 UTSW 19 37,151,900 (GRCm39) missense probably benign 0.13
R7594:Cpeb3 UTSW 19 37,151,551 (GRCm39) missense possibly damaging 0.70
R7630:Cpeb3 UTSW 19 37,031,693 (GRCm39) missense probably damaging 1.00
R8392:Cpeb3 UTSW 19 37,152,291 (GRCm39) small deletion probably benign
R8430:Cpeb3 UTSW 19 37,002,406 (GRCm39) missense probably damaging 1.00
R8947:Cpeb3 UTSW 19 37,152,366 (GRCm39) missense probably damaging 0.98
R9748:Cpeb3 UTSW 19 37,151,926 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TTCTAAATAACAGCGAGTGGACC -3'
(R):5'- ATCATGACCAGCAAGCCGTC -3'

Sequencing Primer
(F):5'- CAGCGAGTGGACCAATTAAAATAAC -3'
(R):5'- AAGCCGTCCTCATCCTCGG -3'
Posted On 2022-03-25