Incidental Mutation 'R8042:Pabpc1'
ID 618597
Institutional Source Beutler Lab
Gene Symbol Pabpc1
Ensembl Gene ENSMUSG00000022283
Gene Name poly(A) binding protein, cytoplasmic 1
Synonyms Pabpl1, Pabp1
MMRRC Submission 067479-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R8042 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 36595902-36609825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36598553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 447 (F447S)
Ref Sequence ENSEMBL: ENSMUSP00000001809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001809]
AlphaFold P29341
Predicted Effect probably benign
Transcript: ENSMUST00000001809
AA Change: F447S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: F447S

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 probably benign
Transcript: ENSMUST00000155116
SMART Domains Protein: ENSMUSP00000117063
Gene: ENSMUSG00000022283

DomainStartEndE-ValueType
PolyA 36 99 6.9e-42 SMART
Meta Mutation Damage Score 0.2513 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,002,233 (GRCm39) Y1582C possibly damaging Het
Acly A G 11: 100,405,151 (GRCm39) I339T probably damaging Het
Adcy4 A G 14: 56,012,696 (GRCm39) V541A probably benign Het
Arhgef3 T A 14: 27,084,766 (GRCm39) V45D possibly damaging Het
Azi2 C A 9: 117,891,165 (GRCm39) Q397K probably benign Het
Cacna1h G T 17: 25,611,445 (GRCm39) S451* probably null Het
Cacna2d3 A T 14: 28,826,995 (GRCm39) probably benign Het
Cep85l A G 10: 53,224,759 (GRCm39) Y277H probably damaging Het
Cep97 C A 16: 55,731,965 (GRCm39) V608L probably benign Het
Crb1 T A 1: 139,242,392 (GRCm39) Y362F probably damaging Het
Ctc1 T A 11: 68,920,669 (GRCm39) probably benign Het
Dnah14 T C 1: 181,471,196 (GRCm39) probably null Het
Dock4 T C 12: 40,795,759 (GRCm39) F859L probably benign Het
Errfi1 T C 4: 150,950,914 (GRCm39) F114S possibly damaging Het
Gbp9 T A 5: 105,242,108 (GRCm39) I150F probably damaging Het
Loxhd1 C T 18: 77,518,888 (GRCm39) T1898M probably damaging Het
Lrrc9 A T 12: 72,507,680 (GRCm39) T394S probably benign Het
Ltbp2 T C 12: 84,838,673 (GRCm39) E1115G probably damaging Het
Mast4 T C 13: 102,917,753 (GRCm39) S552G probably damaging Het
Mgat4b T A 11: 50,123,203 (GRCm39) Y263* probably null Het
Moxd2 T C 6: 40,862,301 (GRCm39) I173V probably benign Het
Mrc2 T C 11: 105,239,181 (GRCm39) V1312A probably damaging Het
Myh1 A T 11: 67,097,429 (GRCm39) I465F probably damaging Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nt5dc1 T C 10: 34,273,210 (GRCm39) D196G probably benign Het
Obscn T C 11: 58,931,143 (GRCm39) D5028G possibly damaging Het
Pcsk6 T G 7: 65,577,683 (GRCm39) N201K possibly damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Ptpro A G 6: 137,393,881 (GRCm39) T850A possibly damaging Het
Rnf213 A G 11: 119,332,480 (GRCm39) D2564G Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sec24a T C 11: 51,595,144 (GRCm39) T939A probably benign Het
Serpine1 A T 5: 137,095,855 (GRCm39) L242H probably benign Het
Slc27a4 T A 2: 29,701,202 (GRCm39) V331E probably damaging Het
Slc6a6 A C 6: 91,718,226 (GRCm39) I347L probably benign Het
Spns2 A T 11: 72,345,003 (GRCm39) L495H possibly damaging Het
Stam2 A G 2: 52,596,409 (GRCm39) probably null Het
Syt12 C A 19: 4,503,852 (GRCm39) V260F probably damaging Het
Tdrd7 T A 4: 45,987,516 (GRCm39) S50T possibly damaging Het
Tert T A 13: 73,775,264 (GRCm39) V39E probably damaging Het
Tmem147 T A 7: 30,427,978 (GRCm39) S75C probably damaging Het
Tnpo2 C T 8: 85,778,188 (GRCm39) P564S probably damaging Het
Utp25 A G 1: 192,796,980 (GRCm39) V1A Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Zfp738 A G 13: 67,819,010 (GRCm39) L327S 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
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
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
Predicted Primers PCR Primer
(F):5'- ACGTGGACCCATTGTCTGTG -3'
(R):5'- AACAAGCTGGGTTTCAGGAGC -3'

Sequencing Primer
(F):5'- GACCCATTGTCTGTGTTGATG -3'
(R):5'- TCAGGAGCACTTGGTGTTAC -3'
Posted On 2020-01-23