Incidental Mutation 'R6413:Papola'
ID 514826
Institutional Source Beutler Lab
Gene Symbol Papola
Ensembl Gene ENSMUSG00000021111
Gene Name poly (A) polymerase alpha
Synonyms PapIII, Plap
MMRRC Submission 044555-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R6413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 105750953-105805203 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 105772763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021535] [ENSMUST00000109901] [ENSMUST00000163473] [ENSMUST00000164326] [ENSMUST00000166329] [ENSMUST00000166735] [ENSMUST00000168186] [ENSMUST00000169938] [ENSMUST00000170002] [ENSMUST00000170540]
AlphaFold Q61183
Predicted Effect silent
Transcript: ENSMUST00000021535
SMART Domains Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111

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 silent
Transcript: ENSMUST00000109901
SMART Domains Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111

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 silent
Transcript: ENSMUST00000163473
SMART Domains Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111

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 noncoding transcript
Transcript: ENSMUST00000165584
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 noncoding transcript
Transcript: ENSMUST00000166498
Predicted Effect silent
Transcript: ENSMUST00000166735
SMART Domains Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 17 283 9.4e-73 PFAM
Pfam:NTP_transf_2 72 175 5.7e-12 PFAM
Predicted Effect silent
Transcript: ENSMUST00000168186
SMART Domains Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111

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 silent
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 silent
Transcript: ENSMUST00000170002
SMART Domains Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111

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 benign
Transcript: ENSMUST00000170540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172040
Predicted Effect probably benign
Transcript: ENSMUST00000169524
SMART Domains Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 1 95 5e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170831
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (37/37)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,624,647 (GRCm39) probably benign Het
Agtpbp1 A G 13: 59,647,834 (GRCm39) V662A possibly damaging Het
Ambra1 T G 2: 91,599,429 (GRCm39) V183G possibly damaging Het
Amdhd2 A G 17: 24,377,290 (GRCm39) S208P probably damaging Het
Ankdd1a C T 9: 65,417,654 (GRCm39) V133I probably benign Het
Ankrd35 A G 3: 96,592,129 (GRCm39) K805R probably damaging Het
Arhgap28 T C 17: 68,182,583 (GRCm39) Q270R probably benign Het
Cabp2 G A 19: 4,135,698 (GRCm39) probably null Het
Ccnt1 A G 15: 98,441,850 (GRCm39) S473P probably benign Het
Cenpt G A 8: 106,572,973 (GRCm39) P373S possibly damaging Het
Cyp3a44 T A 5: 145,731,254 (GRCm39) D182V probably damaging Het
Ddx54 A G 5: 120,765,127 (GRCm39) T799A probably benign Het
Dtna T A 18: 23,755,071 (GRCm39) D464E probably damaging Het
E030025P04Rik T C 11: 109,030,425 (GRCm39) Y154C unknown Het
Ephb2 C A 4: 136,498,433 (GRCm39) E215D probably benign Het
Eya4 T C 10: 22,992,724 (GRCm39) D445G probably damaging Het
Flg2 A T 3: 93,127,683 (GRCm39) L2198F unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klhl22 T C 16: 17,607,181 (GRCm39) F496L probably benign Het
Numa1 A T 7: 101,639,778 (GRCm39) probably null Het
Phldb1 T C 9: 44,607,440 (GRCm39) E1255G probably damaging Het
Rgs8 A T 1: 153,568,619 (GRCm39) D168V probably damaging Het
Rlf A G 4: 121,004,522 (GRCm39) V1486A probably damaging Het
Rpa2 G T 4: 132,501,156 (GRCm39) A118S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina1f T A 12: 103,659,953 (GRCm39) I110F probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Sh2b3 A G 5: 121,966,986 (GRCm39) Y43H probably damaging Het
Shank2 A G 7: 143,963,955 (GRCm39) E514G probably damaging Het
Slc44a5 T C 3: 153,963,387 (GRCm39) F388S probably benign Het
Spmip6 A T 4: 41,505,135 (GRCm39) V196D possibly damaging Het
Tmem176b T C 6: 48,815,266 (GRCm39) N9S possibly damaging Het
Trip11 T A 12: 101,851,790 (GRCm39) Q758L probably benign Het
Trrap T A 5: 144,720,856 (GRCm39) I231N possibly damaging Het
Ttn A T 2: 76,730,397 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,870,973 (GRCm39) N770S probably damaging Het
Vmn2r73 A T 7: 85,519,544 (GRCm39) Y471* probably null Het
Vmn2r8 T G 5: 108,949,589 (GRCm39) E419D probably benign Het
Wdfy4 C A 14: 32,689,604 (GRCm39) L2818F probably damaging Het
Zfhx4 A T 3: 5,308,205 (GRCm39) Y477F 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
IGL02608:Papola APN 12 105,775,818 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers
Posted On 2018-05-04