Incidental Mutation 'R5711:Pabpc1'
ID 452235
Institutional Source Beutler Lab
Gene Symbol Pabpc1
Ensembl Gene ENSMUSG00000022283
Gene Name poly(A) binding protein, cytoplasmic 1
Synonyms Pabpl1, Pabp1
MMRRC Submission 043185-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R5711 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 36595902-36609825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36606074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 101 (I101V)
Ref Sequence ENSEMBL: ENSMUSP00000001809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001809] [ENSMUST00000226496]
AlphaFold P29341
Predicted Effect probably benign
Transcript: ENSMUST00000001809
AA Change: I101V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: I101V

DomainStartEndE-ValueType
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: ENSMUST00000146327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156793
Predicted Effect probably benign
Transcript: ENSMUST00000226496
AA Change: I101V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226867
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak6 A T 13: 100,790,722 (GRCm39) T18S probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap19 A G 19: 41,773,227 (GRCm39) V275A possibly damaging Het
Cebpz T A 17: 79,242,040 (GRCm39) Q538L probably damaging Het
Chgb A T 2: 132,634,618 (GRCm39) I187F probably benign Het
Cldn1 C A 16: 26,190,167 (GRCm39) L70F probably damaging Het
Crybg2 A T 4: 133,809,938 (GRCm39) D1230V probably damaging Het
Csmd1 C T 8: 16,003,703 (GRCm39) C2617Y probably damaging Het
D7Ertd443e T A 7: 133,951,110 (GRCm39) N188Y probably benign Het
Ddx51 A G 5: 110,802,790 (GRCm39) I214M probably benign Het
Dlg5 A G 14: 24,200,716 (GRCm39) V1328A probably damaging Het
Dnah2 C T 11: 69,326,216 (GRCm39) C3639Y probably damaging Het
Dync1i2 C T 2: 71,081,326 (GRCm39) T511I probably benign Het
Fam220a A T 5: 143,549,212 (GRCm39) E208V probably damaging Het
Gm4846 T C 1: 166,311,594 (GRCm39) S422G probably benign Het
Grin2c C T 11: 115,141,115 (GRCm39) R1001Q probably benign Het
H2-T3 T C 17: 36,498,301 (GRCm39) E248G probably damaging Het
Idi2 T C 13: 9,008,518 (GRCm39) V92A probably benign Het
Iqcd C T 5: 120,740,571 (GRCm39) Q301* probably null Het
Klhl26 T C 8: 70,904,974 (GRCm39) D278G probably damaging Het
Mok G T 12: 110,774,503 (GRCm39) T228K probably damaging Het
Or1e22 A G 11: 73,377,008 (GRCm39) I214T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Ppargc1a G T 5: 51,631,562 (GRCm39) Q356K probably damaging Het
Ptprt T A 2: 161,652,524 (GRCm39) D608V probably damaging Het
Rxfp1 C T 3: 79,586,054 (GRCm39) C96Y probably damaging Het
Scn11a A C 9: 119,618,990 (GRCm39) V784G probably damaging Het
Septin4 T C 11: 87,458,723 (GRCm39) S366P probably benign Het
Slc12a8 A G 16: 33,410,679 (GRCm39) Y226C probably damaging Het
Slc25a33 A G 4: 149,846,914 (GRCm39) V49A possibly damaging Het
Slc25a45 T C 19: 5,934,451 (GRCm39) S140P probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Spty2d1 G T 7: 46,647,845 (GRCm39) N361K possibly damaging Het
Stk4 G A 2: 163,941,674 (GRCm39) A297T probably benign Het
Thsd7b T A 1: 129,688,139 (GRCm39) N683K probably damaging Het
Tln2 T C 9: 67,299,829 (GRCm39) E141G probably benign Het
Tmem125 A T 4: 118,399,216 (GRCm39) C72S probably damaging Het
Ttn G T 2: 76,572,437 (GRCm39) T26152K probably damaging Het
Uhrf1 G A 17: 56,627,259 (GRCm39) G643D possibly damaging Het
Vmn2r50 C T 7: 9,774,299 (GRCm39) M532I possibly 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
R5324:Pabpc1 UTSW 15 36,600,869 (GRCm39) missense probably damaging 1.00
R5328:Pabpc1 UTSW 15 36,603,121 (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
(F):5'- GTAGAAATGTTAGCCACCCAATC -3'
(R):5'- AGTTGAGCTGAGGCCACATG -3'

Sequencing Primer
(F):5'- TGTTAGCCACCCAATCCCAGG -3'
(R):5'- ACTCCCTGTCACTGGTAATTTTATAC -3'
Posted On 2017-01-03