Incidental Mutation 'R5831:Papola'
ID 449327
Institutional Source Beutler Lab
Gene Symbol Papola
Ensembl Gene ENSMUSG00000021111
Gene Name poly (A) polymerase alpha
Synonyms PapIII, Plap
MMRRC Submission 043220-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R5831 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 105750953-105805203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105789859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 482 (K482E)
Ref Sequence ENSEMBL: ENSMUSP00000105527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021535] [ENSMUST00000109901] [ENSMUST00000163473] [ENSMUST00000166329] [ENSMUST00000168186] [ENSMUST00000170002] [ENSMUST00000169938]
AlphaFold Q61183
Predicted Effect probably benign
Transcript: ENSMUST00000021535
AA Change: K482E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: K482E

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 benign
Transcript: ENSMUST00000109901
AA Change: K482E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: K482E

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 benign
Transcript: ENSMUST00000163473
AA Change: K482E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: K482E

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 unknown
Transcript: ENSMUST00000164798
AA Change: K153E
SMART Domains Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: K153E

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 benign
Transcript: ENSMUST00000166329
SMART Domains Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 17 99 4.8e-17 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000166471
AA Change: K170E
SMART Domains Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: K170E

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
Predicted Effect probably benign
Transcript: ENSMUST00000168186
AA Change: K482E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: K482E

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 probably benign
Transcript: ENSMUST00000170002
AA Change: K482E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: K482E

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 noncoding transcript
Transcript: ENSMUST00000170189
Predicted Effect probably benign
Transcript: ENSMUST00000169524
SMART Domains Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 1 95 5e-58 PFAM
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.6%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,517,777 (GRCm39) K4460* probably null Het
Adam21 A G 12: 81,605,875 (GRCm39) V629A probably benign Het
Adamts5 C T 16: 85,665,006 (GRCm39) V653I probably damaging Het
Adarb2 G A 13: 8,609,169 (GRCm39) A44T probably benign Het
Ank2 T C 3: 127,132,808 (GRCm39) probably benign Het
Arhgap21 T C 2: 20,868,024 (GRCm39) Y833C probably damaging Het
Brwd1 A G 16: 95,820,636 (GRCm39) S1297P probably damaging Het
Cdc25b G T 2: 131,029,301 (GRCm39) probably null Het
Ciart A T 3: 95,786,214 (GRCm39) V287D probably damaging Het
Csf2ra A G 19: 61,213,650 (GRCm39) F353S probably damaging Het
D630045J12Rik C T 6: 38,119,592 (GRCm39) E1717K possibly damaging Het
Dhcr24 A G 4: 106,421,611 (GRCm39) K82R probably benign Het
Dnah9 T A 11: 65,998,947 (GRCm39) T1034S probably benign Het
Dock6 T C 9: 21,714,332 (GRCm39) E1837G probably damaging Het
Eeig2 A T 3: 108,900,019 (GRCm39) S110T possibly damaging Het
Flg2 G A 3: 93,107,541 (GRCm39) V9I probably damaging Het
Hif1a A T 12: 73,988,918 (GRCm39) T602S probably benign Het
Hip1 T C 5: 135,440,117 (GRCm39) E1015G probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irgq C A 7: 24,232,763 (GRCm39) F201L probably damaging Het
Isoc2b C A 7: 4,854,023 (GRCm39) L116F probably null Het
Loxl3 A T 6: 83,025,999 (GRCm39) T416S probably benign Het
Map3k13 A G 16: 21,746,798 (GRCm39) *960W probably null Het
Morn1 A G 4: 155,185,733 (GRCm39) H183R probably benign Het
Mrc1 A T 2: 14,313,523 (GRCm39) N918I probably damaging Het
Nfxl1 A G 5: 72,679,540 (GRCm39) V763A probably benign Het
Or11g1 A G 14: 50,651,439 (GRCm39) probably null Het
Or4c100 G A 2: 88,356,824 (GRCm39) W299* probably null Het
Pck1 C T 2: 172,998,792 (GRCm39) T350I probably damaging Het
Peli2 G A 14: 48,405,727 (GRCm39) A51T probably damaging Het
Preb T C 5: 31,116,208 (GRCm39) H133R probably benign Het
Rpl36-ps4 T C 17: 88,228,685 (GRCm39) V73A probably benign Het
Scaf11 G A 15: 96,314,962 (GRCm39) P1240L probably benign Het
Selenom G T 11: 3,466,882 (GRCm39) E81* probably null Het
Serpinb1c T C 13: 33,081,081 (GRCm39) M1V probably null Het
Tanc1 T C 2: 59,615,685 (GRCm39) S231P possibly damaging Het
Trappc10 C T 10: 78,045,260 (GRCm39) R476Q probably damaging Het
Twf2 T A 9: 106,091,386 (GRCm39) D200E probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn2r71 G A 7: 85,272,922 (GRCm39) D579N probably benign Het
Vrtn A T 12: 84,695,349 (GRCm39) E33V 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
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
Predicted Primers PCR Primer
(F):5'- ATTGCATCCGACTAGGGACAG -3'
(R):5'- GACAATGAGAACACGGTCTCTCAC -3'

Sequencing Primer
(F):5'- CAGGCGGTGGGAAAGGTTC -3'
(R):5'- ACAAGTCTGTCAGATGCTGTC -3'
Posted On 2016-12-20