Incidental Mutation 'R6048:Papolg'
ID 483402
Institutional Source Beutler Lab
Gene Symbol Papolg
Ensembl Gene ENSMUSG00000020273
Gene Name poly(A) polymerase gamma
Synonyms 9630006B20Rik
MMRRC Submission 044216-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R6048 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 23812646-23845253 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 23841815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 36 (I36S)
Ref Sequence ENSEMBL: ENSMUSP00000020513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020513] [ENSMUST00000102863]
AlphaFold Q6PCL9
Predicted Effect probably benign
Transcript: ENSMUST00000020513
AA Change: I36S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: I36S

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 benign
Transcript: ENSMUST00000102863
AA Change: I36S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273
AA Change: I36S

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
Meta Mutation Damage Score 0.0740 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (60/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 T C 9: 71,169,049 (GRCm39) I177T probably damaging Het
Aopep T A 13: 63,388,139 (GRCm39) F39L probably damaging Het
Arl4c A G 1: 88,629,350 (GRCm39) S13P possibly damaging Het
Bst1 G T 5: 43,976,306 (GRCm39) probably benign Het
Carmil3 G A 14: 55,741,302 (GRCm39) R1029Q probably benign Het
Cflar A G 1: 58,780,202 (GRCm39) T269A probably benign Het
Clcnka T A 4: 141,121,798 (GRCm39) Y236F probably damaging Het
Clmp T A 9: 40,682,405 (GRCm39) I63N probably damaging Het
Cln6 T C 9: 62,751,908 (GRCm39) L44P probably damaging Het
Col5a3 C T 9: 20,718,915 (GRCm39) A280T unknown Het
Dact2 A G 17: 14,417,567 (GRCm39) L211P probably damaging Het
Dclk2 G T 3: 86,813,272 (GRCm39) Q225K probably damaging Het
Ddx60 T C 8: 62,453,616 (GRCm39) F1245S probably benign Het
Efcab3 A G 11: 104,835,259 (GRCm39) K3540E unknown Het
Eif3i T C 4: 129,487,145 (GRCm39) N240S probably benign Het
Enpp1 T C 10: 24,536,152 (GRCm39) Y416C probably damaging Het
Epb42 T A 2: 120,854,889 (GRCm39) R565S probably benign Het
Eral1 G A 11: 77,966,609 (GRCm39) P217L probably benign Het
Fbxl16 A G 17: 26,035,967 (GRCm39) Y188C probably benign Het
Fgd3 G A 13: 49,427,224 (GRCm39) P503S probably benign Het
Frem3 T C 8: 81,340,062 (GRCm39) L785P probably benign Het
Gadl1 A G 9: 115,835,769 (GRCm39) probably null Het
Gm10787 C T 10: 76,857,676 (GRCm39) noncoding transcript Het
Gm6563 A G 19: 23,653,246 (GRCm39) K12R probably benign Het
Grm5 T C 7: 87,675,758 (GRCm39) L424P probably damaging Het
H2ac11 A G 13: 22,227,006 (GRCm39) V31A probably benign Het
Il17re T C 6: 113,447,069 (GRCm39) S607P possibly damaging Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih1 A G 14: 30,651,780 (GRCm39) M854T possibly damaging Het
Kif1b A G 4: 149,348,086 (GRCm39) L315P probably damaging Het
Ms4a6b T C 19: 11,497,734 (GRCm39) V11A possibly damaging Het
Mxd1 C A 6: 86,627,966 (GRCm39) D191Y probably damaging Het
Nol8 T A 13: 49,807,160 (GRCm39) probably null Het
Ntn4 T A 10: 93,543,128 (GRCm39) probably null Het
Nxph1 A T 6: 9,247,103 (GRCm39) T25S probably benign Het
Or1n1 A G 2: 36,749,853 (GRCm39) V169A probably benign Het
Or2bd2 A C 7: 6,443,354 (GRCm39) T152P possibly damaging Het
Or3a1 A T 11: 74,225,961 (GRCm39) I32K probably benign Het
Or51f1d A G 7: 102,700,526 (GRCm39) N7S probably benign Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c219 A G 10: 129,781,695 (GRCm39) F79L possibly damaging Het
Oxsm T A 14: 16,242,308 (GRCm38) M154L possibly damaging Het
Pde3b T A 7: 114,107,502 (GRCm39) H544Q probably benign Het
Pdzd2 A T 15: 12,592,656 (GRCm39) probably null Het
Prkce C A 17: 86,800,775 (GRCm39) P397Q probably benign Het
Ralgapa2 T C 2: 146,276,765 (GRCm39) S492G possibly damaging Het
Rnf216 A G 5: 143,054,659 (GRCm39) Y630H probably damaging Het
Ruvbl1 C T 6: 88,459,973 (GRCm39) T211I possibly damaging Het
Scyl2 A T 10: 89,481,348 (GRCm39) D666E probably benign Het
Sertad2 A G 11: 20,598,436 (GRCm39) T211A probably benign Het
Sipa1l1 A T 12: 82,487,643 (GRCm39) Q1639L probably benign Het
Snx5 T C 2: 144,101,073 (GRCm39) D98G probably damaging Het
Sorcs2 G T 5: 36,185,332 (GRCm39) probably null Het
Spmip2 T C 3: 79,313,192 (GRCm39) S89P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tmem132d A G 5: 128,346,181 (GRCm39) S114P probably benign Het
Tns2 G A 15: 102,019,846 (GRCm39) G579R probably damaging Het
Usp37 A T 1: 74,517,295 (GRCm39) probably null Het
Vmn1r79 T C 7: 11,910,448 (GRCm39) I110T probably damaging Het
Vps37a C T 8: 40,981,363 (GRCm39) L69F probably damaging Het
Xirp2 T A 2: 67,338,587 (GRCm39) I276N possibly damaging Het
Zfp946 G A 17: 22,673,821 (GRCm39) E192K probably benign Het
Other mutations in Papolg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Papolg APN 11 23,826,377 (GRCm39) missense possibly damaging 0.93
IGL01016:Papolg APN 11 23,835,570 (GRCm39) missense possibly damaging 0.58
IGL01394:Papolg APN 11 23,817,235 (GRCm39) missense probably benign
IGL01710:Papolg APN 11 23,814,026 (GRCm39) missense probably damaging 0.99
IGL01786:Papolg APN 11 23,824,488 (GRCm39) missense probably damaging 1.00
IGL02008:Papolg APN 11 23,829,898 (GRCm39) missense probably damaging 1.00
IGL02127:Papolg APN 11 23,820,870 (GRCm39) unclassified probably benign
IGL02329:Papolg APN 11 23,841,869 (GRCm39) missense probably damaging 0.98
IGL02535:Papolg APN 11 23,840,245 (GRCm39) missense probably benign 0.00
IGL02588:Papolg APN 11 23,840,252 (GRCm39) missense probably damaging 1.00
IGL03058:Papolg APN 11 23,845,029 (GRCm39) missense probably benign 0.00
IGL03301:Papolg APN 11 23,824,503 (GRCm39) missense probably benign 0.05
Runningback UTSW 11 23,823,919 (GRCm39) splice site probably null
R0124:Papolg UTSW 11 23,817,535 (GRCm39) missense probably benign 0.21
R0369:Papolg UTSW 11 23,822,425 (GRCm39) critical splice donor site probably null
R0454:Papolg UTSW 11 23,829,868 (GRCm39) splice site probably null
R0743:Papolg UTSW 11 23,820,818 (GRCm39) splice site probably null
R0931:Papolg UTSW 11 23,832,257 (GRCm39) missense probably damaging 0.96
R1856:Papolg UTSW 11 23,817,379 (GRCm39) missense probably benign 0.06
R1940:Papolg UTSW 11 23,817,279 (GRCm39) missense probably benign 0.00
R2239:Papolg UTSW 11 23,826,378 (GRCm39) missense probably damaging 0.99
R3802:Papolg UTSW 11 23,826,449 (GRCm39) missense probably damaging 1.00
R4275:Papolg UTSW 11 23,818,378 (GRCm39) missense probably benign
R4989:Papolg UTSW 11 23,823,919 (GRCm39) splice site probably null
R5074:Papolg UTSW 11 23,817,331 (GRCm39) missense possibly damaging 0.78
R5122:Papolg UTSW 11 23,817,501 (GRCm39) critical splice donor site probably null
R6365:Papolg UTSW 11 23,832,290 (GRCm39) missense probably damaging 1.00
R6577:Papolg UTSW 11 23,829,857 (GRCm39) critical splice donor site probably benign
R7117:Papolg UTSW 11 23,845,207 (GRCm39) start gained probably benign
R7283:Papolg UTSW 11 23,817,394 (GRCm39) missense not run
R7372:Papolg UTSW 11 23,816,439 (GRCm39) missense probably benign 0.16
R7761:Papolg UTSW 11 23,841,884 (GRCm39) missense probably benign 0.05
R8503:Papolg UTSW 11 23,820,292 (GRCm39) missense probably benign 0.01
R9212:Papolg UTSW 11 23,823,817 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCCACTAGTACTCAGTCATGC -3'
(R):5'- GACAGAATACCCGCCTTTCC -3'

Sequencing Primer
(F):5'- CCACTAGTACTCAGTCATGCTTAAC -3'
(R):5'- TGTTCCTCAAACTTTTAAGTGGC -3'
Posted On 2017-07-14