Incidental Mutation 'R3970:Pabpc5'
ID 310954
Institutional Source Beutler Lab
Gene Symbol Pabpc5
Ensembl Gene ENSMUSG00000034732
Gene Name poly(A) binding protein, cytoplasmic 5
Synonyms
MMRRC Submission 040938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R3970 (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: 97.1%
  • 20x: 94.4%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,779 (GRCm39) M583T probably damaging Het
Actn4 T C 7: 28,661,457 (GRCm39) K51R probably benign Het
Adamts15 T C 9: 30,821,898 (GRCm39) Y513C probably benign Het
Akap13 T A 7: 75,219,699 (GRCm39) L34* probably null Het
Akap6 A T 12: 53,188,236 (GRCm39) K1883N probably damaging Het
Ano1 T C 7: 144,161,700 (GRCm39) N749D probably benign Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Cdhr2 A T 13: 54,874,271 (GRCm39) N781I probably damaging Het
Cherp T C 8: 73,223,795 (GRCm39) H196R possibly damaging Het
Chia1 T G 3: 106,028,951 (GRCm39) probably null Het
Col11a1 A T 3: 113,890,838 (GRCm39) T392S unknown Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Csf2rb T C 15: 78,225,667 (GRCm39) V286A probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fcho2 A T 13: 98,871,564 (GRCm39) S551T probably benign Het
Flna A T X: 73,279,273 (GRCm39) V1253E probably damaging Het
Gm12185 A T 11: 48,798,172 (GRCm39) C774S probably benign Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
Insyn2b A T 11: 34,369,739 (GRCm39) Q481L probably damaging Het
Kif5c A G 2: 49,578,756 (GRCm39) E128G probably damaging Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Myof C T 19: 37,889,711 (GRCm39) V1287M probably damaging Het
Myof T G 19: 38,011,058 (GRCm39) D60A possibly damaging Het
Myrf A G 19: 10,200,601 (GRCm39) L332P probably damaging Het
Nampt T A 12: 32,883,095 (GRCm39) D93E probably benign Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Nlrp6 C A 7: 140,501,568 (GRCm39) A45E probably damaging Het
Obscn G A 11: 58,942,488 (GRCm39) P4898L probably damaging Het
Or8c11 T C 9: 38,289,222 (GRCm39) V15A probably damaging Het
Pcdh8 C T 14: 80,007,706 (GRCm39) G286S possibly damaging Het
Pcdha2 C A 18: 37,073,750 (GRCm39) Y460* probably null Het
Pcdhga4 G T 18: 37,820,654 (GRCm39) L734F possibly damaging 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
Pign A C 1: 105,583,728 (GRCm39) S125A probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pkd1l1 C T 11: 8,824,218 (GRCm39) E1566K probably damaging Het
Plcb2 A G 2: 118,546,171 (GRCm39) probably benign Het
Ppl T C 16: 4,918,196 (GRCm39) probably null Het
Pramel4 A T 4: 143,795,044 (GRCm39) N477I possibly damaging Het
Psd C T 19: 46,312,845 (GRCm39) R175H probably benign Het
Sema3g T C 14: 30,948,478 (GRCm39) probably null Het
Sf3b1 G A 1: 55,051,341 (GRCm39) R196* probably null Het
Slc26a4 G T 12: 31,578,686 (GRCm39) H656N probably damaging Het
Slc6a7 A C 18: 61,136,417 (GRCm39) L328R possibly damaging Het
Stab2 T C 10: 86,714,750 (GRCm39) T139A probably damaging Het
Tiam2 T A 17: 3,479,106 (GRCm39) I613N probably damaging Het
Tlk1 A G 2: 70,546,996 (GRCm39) V695A probably damaging Het
Trpc2 A G 7: 101,733,531 (GRCm39) D160G probably damaging Het
Uhrf2 T C 19: 30,057,315 (GRCm39) V491A probably damaging Het
Vwa7 G A 17: 35,236,684 (GRCm39) A84T probably damaging Het
Zfp219 T A 14: 52,244,421 (GRCm39) Q541L probably benign 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
R3969:Pabpc5 UTSW X 118,838,321 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTCGATAGCCTTGCTGCTG -3'
(R):5'- CTTAATTCAGCCAGGCGTTC -3'

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