Incidental Mutation 'IGL02588:Papolg'
ID299615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papolg
Ensembl Gene ENSMUSG00000020273
Gene Namepoly(A) polymerase gamma
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL02588
Quality Score
Status
Chromosome11
Chromosomal Location23862646-23895253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23890252 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 75 (I75F)
Ref Sequence ENSEMBL: ENSMUSP00000020513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020513] [ENSMUST00000102863]
Predicted Effect probably damaging
Transcript: ENSMUST00000020513
AA Change: I75F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: I75F

DomainStartEndE-ValueType
Pfam:PAP_central 20 363 1.4e-118 PFAM
Pfam:NTP_transf_2 53 174 2.8e-15 PFAM
Pfam:PAP_RNA-bind 365 431 2.4e-22 PFAM
Pfam:PAP_RNA-bind 421 506 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102863
AA Change: I75F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273
AA Change: I75F

DomainStartEndE-ValueType
Pfam:PAP_central 16 364 1.5e-111 PFAM
Pfam:NTP_transf_2 89 174 9.2e-12 PFAM
Pfam:PAP_RNA-bind 365 429 6.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151881
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Papolg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Papolg APN 11 23876377 missense possibly damaging 0.93
IGL01016:Papolg APN 11 23885570 missense possibly damaging 0.58
IGL01394:Papolg APN 11 23867235 missense probably benign
IGL01710:Papolg APN 11 23864026 missense probably damaging 0.99
IGL01786:Papolg APN 11 23874488 missense probably damaging 1.00
IGL02008:Papolg APN 11 23879898 missense probably damaging 1.00
IGL02127:Papolg APN 11 23870870 unclassified probably benign
IGL02329:Papolg APN 11 23891869 missense probably damaging 0.98
IGL02535:Papolg APN 11 23890245 missense probably benign 0.00
IGL03058:Papolg APN 11 23895029 missense probably benign 0.00
IGL03301:Papolg APN 11 23874503 missense probably benign 0.05
R0124:Papolg UTSW 11 23867535 missense probably benign 0.21
R0369:Papolg UTSW 11 23872425 critical splice donor site probably null
R0454:Papolg UTSW 11 23879868 splice site probably null
R0743:Papolg UTSW 11 23870818 unclassified probably null
R0931:Papolg UTSW 11 23882257 missense probably damaging 0.96
R1856:Papolg UTSW 11 23867379 missense probably benign 0.06
R1940:Papolg UTSW 11 23867279 missense probably benign 0.00
R2239:Papolg UTSW 11 23876378 missense probably damaging 0.99
R3802:Papolg UTSW 11 23876449 missense probably damaging 1.00
R4275:Papolg UTSW 11 23868378 missense probably benign
R4989:Papolg UTSW 11 23873919 splice site probably null
R5074:Papolg UTSW 11 23867331 missense possibly damaging 0.78
R5122:Papolg UTSW 11 23867501 critical splice donor site probably null
R6048:Papolg UTSW 11 23891815 missense probably benign 0.04
R6365:Papolg UTSW 11 23882290 missense probably damaging 1.00
R6577:Papolg UTSW 11 23879857 critical splice donor site probably benign
R7117:Papolg UTSW 11 23895207 start gained probably benign
R7283:Papolg UTSW 11 23867394 missense not run
R7372:Papolg UTSW 11 23866439 missense probably benign 0.16
Posted On2015-04-16