Mutagenetix > Incidental Mutation

Incidental Mutation 'R4989:Papolg'

386058

Institutional Source

Beutler Lab

Gene Symbol

Papolg

Ensembl Gene

ENSMUSG00000020273

Gene Name

poly(A) polymerase gamma

Synonyms

9630006B20Rik

MMRRC Submission

042583-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R4989 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

23812646-23845253 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 23823919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020513] [ENSMUST00000020513] [ENSMUST00000102863] [ENSMUST00000102863]

AlphaFold

Q6PCL9

Predicted Effect

probably null
Transcript: ENSMUST00000020513

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000020513

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000102863

SMART Domains

Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000102863

SMART Domains

Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acot6	A	G	12: 84,155,789 (GRCm39)	K246E	probably benign	Het
Actl11	T	A	9: 107,808,615 (GRCm39)	H979Q	probably damaging	Het
Adal	T	A	2: 120,986,030 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,087,840 (GRCm39)	V596I	probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank1	T	C	8: 23,631,134 (GRCm39)		probably benign	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,763,217 (GRCm39)	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,395,242 (GRCm39)	K217R	probably damaging	Het
Ankrd45	T	C	1: 160,982,876 (GRCm39)	V129A	probably damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,247,806 (GRCm39)	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,764,649 (GRCm39)		probably benign	Het
Auh	A	G	13: 52,995,065 (GRCm39)	S167P	probably damaging	Het
Bach1	A	T	16: 87,515,888 (GRCm39)	K143I	possibly damaging	Het
Bbx	T	A	16: 50,045,101 (GRCm39)	T487S	probably damaging	Het
Bche	T	G	3: 73,609,177 (GRCm39)	D83A	probably benign	Het
Bri3bp	G	T	5: 125,518,760 (GRCm39)		probably benign	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 179,965,366 (GRCm39)	T1028A	probably damaging	Het
Ceacam23	A	G	7: 17,639,143 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,319,945 (GRCm39)	I956V	possibly damaging	Het
Cep95	A	T	11: 106,707,480 (GRCm39)		probably null	Het
Cic	G	T	7: 24,986,535 (GRCm39)	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,650,025 (GRCm39)	Y223H	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Ctsm	A	G	13: 61,686,776 (GRCm39)	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,474,722 (GRCm39)	V119A	probably damaging	Het
Drosha	T	A	15: 12,935,093 (GRCm39)	M1336K	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Erich3	C	T	3: 154,454,025 (GRCm39)	T597I	possibly damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fcgrt	C	T	7: 44,751,372 (GRCm39)	G192D	probably benign	Het
Fras1	A	G	5: 96,798,541 (GRCm39)	E1184G	possibly damaging	Het
Garre1	A	C	7: 33,945,225 (GRCm39)	Y552D	probably damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gvin-ps5	A	T	7: 105,928,664 (GRCm39)		noncoding transcript	Het
Hadh	A	T	3: 131,029,197 (GRCm39)	L274*	probably null	Het
Hus1	T	C	11: 8,956,027 (GRCm39)	S169G	probably damaging	Het
Hydin	A	T	8: 111,290,554 (GRCm39)	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,945,768 (GRCm39)	E28D	probably benign	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Krit1	A	T	5: 3,872,238 (GRCm39)	N421I	probably damaging	Het
Lamb1	A	G	12: 31,376,677 (GRCm39)	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,347,565 (GRCm39)	F3043L	unknown	Het
Lrrc46	A	T	11: 96,931,765 (GRCm39)	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,471,303 (GRCm39)	S197I	probably damaging	Het
Mrps35	A	C	6: 146,961,645 (GRCm39)	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,220,894 (GRCm39)		probably benign	Het
Ncf1	A	C	5: 134,252,267 (GRCm39)	D261E	probably damaging	Het
Notch1	C	T	2: 26,371,193 (GRCm39)	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,928,274 (GRCm39)		probably benign	Het
Or13a18	C	A	7: 140,190,304 (GRCm39)	A75E	possibly damaging	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Or5k3	T	C	16: 58,969,981 (GRCm39)	L256P	probably damaging	Het
Or5v1	G	T	17: 37,810,017 (GRCm39)	L158F	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pakap	T	A	4: 57,856,552 (GRCm39)	V668E	probably benign	Het
Pgk2	A	G	17: 40,518,402 (GRCm39)	V342A	probably damaging	Het
Phf2	G	A	13: 48,961,320 (GRCm39)	A790V	unknown	Het
Prkdc	T	C	16: 15,491,861 (GRCm39)	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,343,072 (GRCm39)	I86T	possibly damaging	Het
Prss8	G	T	7: 127,525,635 (GRCm39)	Q295K	probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rpl41	G	T	10: 128,384,652 (GRCm39)		probably null	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Serpini1	T	A	3: 75,521,795 (GRCm39)	N95K	probably benign	Het
Sfxn1	A	T	13: 54,242,933 (GRCm39)	T64S	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,660,509 (GRCm39)	K296N	probably benign	Het
Slc37a1	A	G	17: 31,541,120 (GRCm39)	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,413,800 (GRCm39)	N976S	probably benign	Het
Smarcal1	T	C	1: 72,672,019 (GRCm39)	S847P	possibly damaging	Het
Smg1	A	T	7: 117,757,323 (GRCm39)		probably benign	Het
Smg1	C	T	7: 117,807,274 (GRCm39)	A168T	probably benign	Het
Sptlc1	A	G	13: 53,505,692 (GRCm39)	I242T	probably damaging	Het
St8sia2	T	C	7: 73,616,709 (GRCm39)	I89V	possibly damaging	Het
Supt20	A	T	3: 54,602,555 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,076,457 (GRCm39)	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525 (GRCm39)		probably benign	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmbim6	C	A	15: 99,299,950 (GRCm39)	S22*	probably null	Het
Tmc2	A	T	2: 130,043,961 (GRCm39)	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872 (GRCm39)	S142G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt6	T	C	2: 132,650,191 (GRCm39)	R349G	possibly damaging	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,605,122 (GRCm39)	V16555I	probably benign	Het
Tut4	T	A	4: 108,384,042 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Vmn1r17	A	C	6: 57,337,460 (GRCm39)	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,659,622 (GRCm39)	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vwa5a	A	G	9: 38,633,926 (GRCm39)	E43G	probably benign	Het
Wdr86	C	T	5: 24,917,843 (GRCm39)		probably null	Het
Wdsub1	A	T	2: 59,700,758 (GRCm39)		probably benign	Het
Zcchc7	T	C	4: 44,931,039 (GRCm39)	L76P	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp263	T	C	16: 3,566,992 (GRCm39)	C148R	probably damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het

Other mutations in Papolg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6048:Papolg	UTSW	11	23,841,815 (GRCm39)	missense	probably benign	0.04
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'- ATCTTGGGAATATGTAAGGGACAAC -3'
(R):5'- AGCAGATAATTCTCACATAGCTTCC -3'

Sequencing Primer
(F):5'- CAGGGCCAAGCATATTTACCTTG -3'
(R):5'- GCTTTACTGAGGAAAAATTCTGCAG -3'

Posted On

2016-05-10