Incidental Mutation 'R3969:Pabpc5'
ID 310901
Institutional Source Beutler Lab
Gene Symbol Pabpc5
Ensembl Gene ENSMUSG00000034732
Gene Name poly(A) binding protein, cytoplasmic 5
Synonyms
MMRRC Submission 040937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R3969 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 118836893-118839862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118838321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 212 (E212G)
Ref Sequence ENSEMBL: ENSMUSP00000108993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040961] [ENSMUST00000113366]
AlphaFold Q8C7D3
Predicted Effect probably benign
Transcript: ENSMUST00000040961
AA Change: E212G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047756
Gene: ENSMUSG00000034732
AA Change: E212G

DomainStartEndE-ValueType
RRM 18 91 1.63e-14 SMART
RRM 106 177 6.11e-19 SMART
low complexity region 183 198 N/A INTRINSIC
RRM 199 271 4.06e-24 SMART
low complexity region 278 297 N/A INTRINSIC
RRM 302 373 2.66e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113366
AA Change: E212G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108993
Gene: ENSMUSG00000034732
AA Change: E212G

DomainStartEndE-ValueType
RRM 18 91 1.63e-14 SMART
RRM 106 177 6.11e-19 SMART
low complexity region 183 198 N/A INTRINSIC
RRM 199 271 4.06e-24 SMART
low complexity region 278 297 N/A INTRINSIC
RRM 302 373 2.66e-19 SMART
Meta Mutation Damage Score 0.5817 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,835,846 (GRCm39) K60E probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Camk2d G T 3: 126,590,608 (GRCm39) C273F possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Chia1 T G 3: 106,028,951 (GRCm39) probably null Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cpeb4 T C 11: 31,822,811 (GRCm39) I175T possibly damaging Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Faap100 A T 11: 120,269,531 (GRCm39) M1K probably null Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Fryl A T 5: 73,269,766 (GRCm39) S396R probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Habp2 A G 19: 56,300,133 (GRCm39) Y194C probably damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Irf5 A T 6: 29,536,781 (GRCm39) Q497H probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Lins1 C T 7: 66,357,946 (GRCm39) T27I probably benign Het
Ncstn A C 1: 171,897,576 (GRCm39) V439G probably damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Nol8 A T 13: 49,813,492 (GRCm39) K162* probably null Het
Or7g21 A G 9: 19,032,956 (GRCm39) E232G probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pole3 G T 4: 62,443,198 (GRCm39) N12K possibly damaging Het
Prl2a1 A G 13: 27,990,263 (GRCm39) S71G probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,738 (GRCm39) V496A probably benign Het
Slc26a1 A G 5: 108,821,818 (GRCm39) S24P probably benign Het
Tspoap1 A T 11: 87,653,272 (GRCm39) N113Y probably damaging Het
Usp17lc A T 7: 103,067,626 (GRCm39) H307L probably damaging Het
Vmn2r79 T C 7: 86,652,801 (GRCm39) W498R probably damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Wwc2 T C 8: 48,309,358 (GRCm39) D808G unknown Het
Ybx2 G A 11: 69,831,242 (GRCm39) R84Q probably damaging Het
Zfp462 C T 4: 55,012,402 (GRCm39) S308F probably damaging Het
Other mutations in Pabpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Pabpc5 APN X 118,837,688 (GRCm39) start codon destroyed probably null
R3967:Pabpc5 UTSW X 118,838,321 (GRCm39) missense probably benign 0.06
R3970:Pabpc5 UTSW X 118,838,321 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TAGCCTTGCTGCTGCCAATAG -3'
(R):5'- CTCCGCCTTAATTCAGCCAG -3'

Sequencing Primer
(F):5'- CCAATAGGGCTATCTGGCACATG -3'
(R):5'- AATTCAGCCAGGCGTTCAATTTTC -3'
Posted On 2015-04-29