Incidental Mutation 'R3967:Pabpc5'
ID312421
Institutional Source Beutler Lab
Gene Symbol Pabpc5
Ensembl Gene ENSMUSG00000034732
Gene Namepoly(A) binding protein, cytoplasmic 5
Synonyms
MMRRC Submission 040838-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #R3967 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location119927196-119930165 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119928624 bp
ZygosityHeterozygous
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]
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 0.0968 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 100% (44/44)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G T 8: 121,539,980 Q56K possibly damaging Het
Adam18 C A 8: 24,629,710 V518L probably benign Het
Akap6 A T 12: 53,141,453 K1883N probably damaging Het
Arhgef12 C A 9: 43,005,551 R432L probably damaging Het
Armcx6 G T X: 134,749,756 H109N possibly damaging Het
Ctnnd2 C A 15: 30,646,929 A257E possibly damaging Het
Depdc5 T A 5: 32,944,115 C322* probably null Het
Enpp7 T C 11: 118,991,001 I324T probably damaging Het
Gm14401 T C 2: 177,086,996 Y292H possibly damaging Het
Gm6871 A T 7: 41,546,724 H196Q probably damaging Het
Gm9964 T C 11: 79,296,376 T82A unknown Het
Gria2 T A 3: 80,710,777 Q317L possibly damaging Het
Grtp1 G A 8: 13,189,705 T134I probably benign Het
Itpkb A T 1: 180,327,798 probably benign Het
Kbtbd12 A G 6: 88,618,506 V114A probably benign Het
Lama3 A T 18: 12,580,341 K3230M probably damaging Het
Ly75 T C 2: 60,327,873 I1023V possibly damaging Het
Myof C T 19: 37,901,263 V1287M probably damaging Het
Myof T G 19: 38,022,610 D60A possibly damaging Het
Narf A T 11: 121,238,421 E10D possibly damaging Het
Nlrx1 A T 9: 44,255,425 probably benign Het
Olfr512 A G 7: 108,713,853 M155V probably benign Het
Olfr921 A G 9: 38,775,368 T38A probably benign Het
Pidd1 A G 7: 141,439,082 F829L possibly damaging Het
Pik3r2 G A 8: 70,770,421 R452C probably benign Het
Pkn2 A G 3: 142,809,677 C658R probably damaging Het
Psd C T 19: 46,324,406 R175H probably benign Het
Rab39 G A 9: 53,686,632 A111V possibly damaging Het
Rb1cc1 T A 1: 6,248,270 probably benign Het
Rnf39 C A 17: 36,943,143 T19K probably damaging Het
Slc16a3 C T 11: 120,955,425 T60M possibly damaging Het
Slc26a4 G T 12: 31,528,687 H656N probably damaging Het
Slc27a1 A G 8: 71,579,787 E184G probably damaging Het
Smc6 T C 12: 11,298,326 V742A probably benign Het
Thoc1 T A 18: 9,968,787 V186D probably damaging Het
Uhrf2 T C 19: 30,079,915 V491A probably damaging Het
Uri1 A G 7: 37,965,502 V253A possibly damaging Het
Vmn2r83 T A 10: 79,491,320 N587K probably benign Het
Vmn2r88 A T 14: 51,413,190 Y120F probably benign Het
Wwox G A 8: 114,488,933 A149T probably damaging Het
Zfp536 T C 7: 37,473,830 *282W probably null Het
Other mutations in Pabpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Pabpc5 APN X 119927991 start codon destroyed probably null
R3969:Pabpc5 UTSW X 119928624 missense probably benign 0.06
R3970:Pabpc5 UTSW X 119928624 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CCACTTCGATAGCCTTGCTG -3'
(R):5'- AATTCAGCCAGGCGTTCAATTTTC -3'

Sequencing Primer
(F):5'- GATAGCCTTGCTGCTGCCAATAG -3'
(R):5'- TGTGCTCTCCCTACACATAGG -3'
Posted On2015-04-29