Incidental Mutation 'R5420:Papola'
ID 428006
Institutional Source Beutler Lab
Gene Symbol Papola
Ensembl Gene ENSMUSG00000021111
Gene Name poly (A) polymerase alpha
Synonyms PapIII, Plap
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 105750953-105805203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105772754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 114 (I114V)
Ref Sequence ENSEMBL: ENSMUSP00000130687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021535] [ENSMUST00000109901] [ENSMUST00000163473] [ENSMUST00000164326] [ENSMUST00000166735] [ENSMUST00000168186] [ENSMUST00000169938] [ENSMUST00000170002] [ENSMUST00000170540] [ENSMUST00000166329]
AlphaFold Q61183
Predicted Effect possibly damaging
Transcript: ENSMUST00000021535
AA Change: I114V

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: I114V

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 possibly damaging
Transcript: ENSMUST00000109901
AA Change: I114V

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: I114V

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 possibly damaging
Transcript: ENSMUST00000163473
AA Change: I114V

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: I114V

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 noncoding transcript
Transcript: ENSMUST00000166498
Predicted Effect probably benign
Transcript: ENSMUST00000166735
AA Change: I114V

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: I114V

DomainStartEndE-ValueType
Pfam:PAP_central 17 283 9.4e-73 PFAM
Pfam:NTP_transf_2 72 175 5.7e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168186
AA Change: I114V

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: I114V

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 possibly damaging
Transcript: ENSMUST00000169938
AA Change: I114V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
AA Change: I114V

DomainStartEndE-ValueType
Pfam:PAP_central 17 157 4.5e-17 PFAM
Pfam:NTP_transf_2 74 166 2.3e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170002
AA Change: I114V

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: I114V

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: ENSMUST00000172040
Predicted Effect probably benign
Transcript: ENSMUST00000170540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170831
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: ENSMUST00000169524
SMART Domains Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111

DomainStartEndE-ValueType
Pfam:PAP_central 1 95 5e-58 PFAM
Meta Mutation Damage Score 0.8016 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R 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
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
Predicted Primers PCR Primer
(F):5'- ATGTCTGAAGAAAATCATGCCC -3'
(R):5'- GCTCAATTAAATGATTCCTCCACC -3'

Sequencing Primer
(F):5'- CATGCCCATTAGTTAGCAGTATC -3'
(R):5'- GATTCCTCCACCAGTAAATACATTTC -3'
Posted On 2016-09-01