Incidental Mutation 'IGL02608:Papola'
ID 300342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papola
Ensembl Gene ENSMUSG00000021111
Gene Name poly (A) polymerase alpha
Synonyms PapIII, Plap
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # IGL02608
Quality Score
Status
Chromosome 12
Chromosomal Location 105750953-105805203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105775818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 245 (G245C)
Ref Sequence ENSEMBL: ENSMUSP00000131668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021535] [ENSMUST00000109901] [ENSMUST00000163473] [ENSMUST00000164326] [ENSMUST00000170002] [ENSMUST00000166735] [ENSMUST00000168186] [ENSMUST00000170540] [ENSMUST00000169938] [ENSMUST00000166329]
AlphaFold Q61183
Predicted Effect probably damaging
Transcript: ENSMUST00000021535
AA Change: G245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: G245C

DomainStartEndE-ValueType
Pfam:PAP_central 17 365 1.5e-111 PFAM
Pfam:NTP_transf_2 75 175 2.4e-11 PFAM
Pfam:PAP_RNA-bind 366 508 8.9e-38 PFAM
low complexity region 518 534 N/A INTRINSIC
low complexity region 583 594 N/A INTRINSIC
low complexity region 605 622 N/A INTRINSIC
low complexity region 646 668 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109901
AA Change: G245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: G245C

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:PAP_central 21 364 4.1e-120 PFAM
Pfam:NTP_transf_2 82 175 8.1e-16 PFAM
Pfam:PAP_RNA-bind 366 435 4.1e-21 PFAM
low complexity region 518 534 N/A INTRINSIC
low complexity region 583 594 N/A INTRINSIC
low complexity region 605 622 N/A INTRINSIC
low complexity region 646 668 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163473
AA Change: G245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: G245C

DomainStartEndE-ValueType
Pfam:PAP_central 17 365 9.2e-112 PFAM
Pfam:NTP_transf_2 75 175 3.3e-11 PFAM
Pfam:PAP_RNA-bind 366 508 4.6e-38 PFAM
low complexity region 518 534 N/A INTRINSIC
low complexity region 583 594 N/A INTRINSIC
low complexity region 605 622 N/A INTRINSIC
low complexity region 646 667 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163805
Predicted Effect probably benign
Transcript: ENSMUST00000164326
SMART Domains Protein: ENSMUSP00000125818
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 17 64 9.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164798
SMART Domains Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 1 36 5.3e-8 PFAM
Pfam:PAP_RNA-bind 38 106 8.5e-22 PFAM
low complexity region 190 206 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
low complexity region 276 293 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170002
AA Change: G245C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: G245C

DomainStartEndE-ValueType
Pfam:PAP_central 17 365 1e-111 PFAM
Pfam:NTP_transf_2 75 175 3.5e-11 PFAM
Pfam:PAP_RNA-bind 366 508 4.8e-38 PFAM
low complexity region 518 534 N/A INTRINSIC
low complexity region 583 594 N/A INTRINSIC
low complexity region 605 622 N/A INTRINSIC
low complexity region 646 663 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166735
AA Change: G245C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: G245C

DomainStartEndE-ValueType
Pfam:PAP_central 17 283 9.4e-73 PFAM
Pfam:NTP_transf_2 72 175 5.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168186
AA Change: G245C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: G245C

DomainStartEndE-ValueType
Pfam:PAP_central 17 365 1.1e-111 PFAM
Pfam:NTP_transf_2 75 175 3.6e-11 PFAM
Pfam:PAP_RNA-bind 366 508 5e-38 PFAM
low complexity region 518 534 N/A INTRINSIC
low complexity region 583 594 N/A INTRINSIC
low complexity region 605 622 N/A INTRINSIC
low complexity region 646 668 N/A INTRINSIC
low complexity region 698 712 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000169524
AA Change: G60C
SMART Domains Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111
AA Change: G60C

DomainStartEndE-ValueType
Pfam:PAP_central 1 95 5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172040
Predicted Effect probably benign
Transcript: ENSMUST00000169938
SMART Domains Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 17 157 4.5e-17 PFAM
Pfam:NTP_transf_2 74 166 2.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166329
SMART Domains Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 17 99 4.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166471
SMART Domains Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 1 53 9.5e-21 PFAM
Pfam:PAP_RNA-bind 55 123 1.3e-21 PFAM
low complexity region 207 223 N/A INTRINSIC
low complexity region 272 283 N/A INTRINSIC
low complexity region 294 311 N/A INTRINSIC
low complexity region 335 357 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Papola
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Papola APN 12 105,775,856 (GRCm39) nonsense probably null
IGL02197:Papola APN 12 105,795,442 (GRCm39) missense possibly damaging 0.90
IGL02511:Papola APN 12 105,775,604 (GRCm39) missense probably damaging 0.99
IGL03081:Papola APN 12 105,785,114 (GRCm39) missense probably damaging 1.00
IGL03378:Papola APN 12 105,775,692 (GRCm39) critical splice donor site probably null
IGL03401:Papola APN 12 105,795,381 (GRCm39) missense probably benign 0.19
R0027:Papola UTSW 12 105,799,395 (GRCm39) missense probably benign 0.12
R0027:Papola UTSW 12 105,799,395 (GRCm39) missense probably benign 0.12
R0325:Papola UTSW 12 105,773,452 (GRCm39) missense probably damaging 1.00
R0372:Papola UTSW 12 105,785,097 (GRCm39) missense probably benign 0.05
R1553:Papola UTSW 12 105,786,669 (GRCm39) missense probably benign 0.30
R1746:Papola UTSW 12 105,773,468 (GRCm39) missense probably benign 0.12
R1954:Papola UTSW 12 105,794,532 (GRCm39) splice site probably null
R2424:Papola UTSW 12 105,793,311 (GRCm39) missense probably benign 0.02
R4133:Papola UTSW 12 105,765,917 (GRCm39) missense possibly damaging 0.83
R4156:Papola UTSW 12 105,767,010 (GRCm39) critical splice donor site probably null
R4718:Papola UTSW 12 105,786,707 (GRCm39) missense possibly damaging 0.72
R4814:Papola UTSW 12 105,765,912 (GRCm39) missense probably damaging 1.00
R5115:Papola UTSW 12 105,793,219 (GRCm39) missense probably benign 0.08
R5237:Papola UTSW 12 105,793,219 (GRCm39) missense probably benign 0.08
R5372:Papola UTSW 12 105,793,309 (GRCm39) missense probably benign 0.00
R5420:Papola UTSW 12 105,772,754 (GRCm39) missense possibly damaging 0.95
R5430:Papola UTSW 12 105,775,843 (GRCm39) missense probably damaging 1.00
R5831:Papola UTSW 12 105,789,859 (GRCm39) missense probably benign 0.01
R5944:Papola UTSW 12 105,778,644 (GRCm39) missense possibly damaging 0.87
R5956:Papola UTSW 12 105,777,300 (GRCm39) missense probably damaging 1.00
R6143:Papola UTSW 12 105,793,219 (GRCm39) missense probably benign 0.08
R6193:Papola UTSW 12 105,786,605 (GRCm39) missense probably benign 0.42
R6413:Papola UTSW 12 105,772,763 (GRCm39) start gained probably benign
R6490:Papola UTSW 12 105,771,196 (GRCm39) missense probably benign 0.40
R6649:Papola UTSW 12 105,778,566 (GRCm39) missense possibly damaging 0.72
R6891:Papola UTSW 12 105,775,950 (GRCm39) unclassified probably benign
R7147:Papola UTSW 12 105,774,897 (GRCm39) start gained probably benign
R7177:Papola UTSW 12 105,775,790 (GRCm39) missense possibly damaging 0.95
R7178:Papola UTSW 12 105,773,443 (GRCm39) missense probably damaging 1.00
R7256:Papola UTSW 12 105,775,604 (GRCm39) missense probably damaging 0.99
R7583:Papola UTSW 12 105,777,304 (GRCm39) missense probably damaging 1.00
R8093:Papola UTSW 12 105,775,836 (GRCm39) missense probably damaging 0.96
R8945:Papola UTSW 12 105,775,946 (GRCm39) unclassified probably benign
R9177:Papola UTSW 12 105,766,032 (GRCm39) missense probably benign 0.00
R9249:Papola UTSW 12 105,799,403 (GRCm39) missense probably benign 0.00
R9268:Papola UTSW 12 105,766,032 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16