Incidental Mutation 'R5324:Pabpc1'
ID 405032
Institutional Source Beutler Lab
Gene Symbol Pabpc1
Ensembl Gene ENSMUSG00000022283
Gene Name poly(A) binding protein, cytoplasmic 1
Synonyms Pabpl1, Pabp1
MMRRC Submission 042907-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R5324 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 36595902-36609825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36600869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 314 (F314L)
Ref Sequence ENSEMBL: ENSMUSP00000001809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001809]
AlphaFold P29341
Predicted Effect probably damaging
Transcript: ENSMUST00000001809
AA Change: F314L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: F314L

RRM 12 85 6.86e-22 SMART
RRM 100 171 2.72e-25 SMART
RRM 192 264 5.39e-29 SMART
RRM 295 366 5.83e-25 SMART
low complexity region 455 462 N/A INTRINSIC
low complexity region 492 509 N/A INTRINSIC
PolyA 554 617 6.9e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147116
Predicted Effect probably benign
Transcript: ENSMUST00000155116
SMART Domains Protein: ENSMUSP00000117063
Gene: ENSMUSG00000022283

PolyA 36 99 6.9e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226830
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ap5b1 G A 19: 5,619,863 (GRCm39) E428K possibly damaging Het
Bmp2 C T 2: 133,403,279 (GRCm39) R277* probably null Het
Cbl A T 9: 44,065,551 (GRCm39) S659T probably damaging Het
Col14a1 A T 15: 55,201,841 (GRCm39) H43L unknown Het
Corin A G 5: 72,592,600 (GRCm39) C133R probably damaging Het
Cyp1a1 A G 9: 57,609,652 (GRCm39) N401S probably benign Het
Dip2a T C 10: 76,132,227 (GRCm39) D508G probably damaging Het
Dnah2 T A 11: 69,348,819 (GRCm39) H2556L probably benign Het
Dock8 T C 19: 25,140,458 (GRCm39) F1333L probably benign Het
Epg5 A G 18: 78,005,660 (GRCm39) K717E possibly damaging Het
Fmn2 G A 1: 174,436,446 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hbp1 T C 12: 31,978,617 (GRCm39) N510S probably damaging Het
Lrguk T C 6: 34,050,732 (GRCm39) S397P possibly damaging Het
Mmrn1 A T 6: 60,953,570 (GRCm39) D617V probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
N6amt1 A G 16: 87,151,241 (GRCm39) D34G probably damaging Het
Nktr A T 9: 121,556,412 (GRCm39) D30V probably damaging Het
Or52ab7 T A 7: 102,978,257 (GRCm39) M188K probably damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Or6c212 T A 10: 129,558,814 (GRCm39) I200L probably benign Het
Papln G A 12: 83,821,345 (GRCm39) V226M probably damaging Het
Parp12 A T 6: 39,079,546 (GRCm39) D321E probably damaging Het
Plch2 T A 4: 155,068,991 (GRCm39) T1107S probably benign Het
Psma2 T C 13: 14,799,802 (GRCm39) L182P probably damaging Het
Rcl1 A G 19: 29,105,401 (GRCm39) Y196C probably benign Het
Rdh16 G A 10: 127,637,136 (GRCm39) V24M probably damaging Het
Rpe65 A G 3: 159,310,041 (GRCm39) T105A possibly damaging Het
Serpini1 T C 3: 75,547,601 (GRCm39) I371T probably damaging Het
Tet2 T C 3: 133,191,674 (GRCm39) N920S probably benign Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tmprss11f T A 5: 86,704,837 (GRCm39) D27V possibly damaging Het
Zfp747l1 G T 7: 126,984,079 (GRCm39) probably benign Het
Zxdc T A 6: 90,350,782 (GRCm39) I411N probably damaging Het
Other mutations in Pabpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01602:Pabpc1 APN 15 36,599,550 (GRCm39) missense probably benign 0.36
IGL01605:Pabpc1 APN 15 36,599,550 (GRCm39) missense probably benign 0.36
IGL01973:Pabpc1 APN 15 36,599,519 (GRCm39) missense probably benign 0.13
R0309:Pabpc1 UTSW 15 36,597,737 (GRCm39) missense possibly damaging 0.93
R0667:Pabpc1 UTSW 15 36,598,275 (GRCm39) missense probably benign
R0883:Pabpc1 UTSW 15 36,599,298 (GRCm39) unclassified probably benign
R1682:Pabpc1 UTSW 15 36,605,785 (GRCm39) missense possibly damaging 0.75
R1749:Pabpc1 UTSW 15 36,608,584 (GRCm39) missense probably damaging 1.00
R4731:Pabpc1 UTSW 15 36,599,528 (GRCm39) missense probably benign 0.21
R4732:Pabpc1 UTSW 15 36,599,528 (GRCm39) missense probably benign 0.21
R4733:Pabpc1 UTSW 15 36,599,528 (GRCm39) missense probably benign 0.21
R4825:Pabpc1 UTSW 15 36,597,255 (GRCm39) missense probably damaging 0.98
R5328:Pabpc1 UTSW 15 36,603,121 (GRCm39) missense probably benign 0.03
R5711:Pabpc1 UTSW 15 36,606,074 (GRCm39) missense probably benign 0.03
R6073:Pabpc1 UTSW 15 36,600,895 (GRCm39) missense probably damaging 0.97
R6751:Pabpc1 UTSW 15 36,597,778 (GRCm39) missense possibly damaging 0.71
R7632:Pabpc1 UTSW 15 36,598,212 (GRCm39) frame shift probably null
R8042:Pabpc1 UTSW 15 36,598,553 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-22