Mutagenetix > Incidental Mutation

Incidental Mutation 'R7372:Papolg'

572169

Institutional Source

Beutler Lab

Gene Symbol

Papolg

Ensembl Gene

ENSMUSG00000020273

Gene Name

poly(A) polymerase gamma

Synonyms

9630006B20Rik

MMRRC Submission

045455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R7372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23812646-23845253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23816439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 698 (I698T)

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: I698T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: I698T

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 benign
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

SMART Domains

Protein: ENSMUSP00000115518
Gene: ENSMUSG00000020273
AA Change: I229T

Domain	Start	End	E-Value	Type
SCOP:d1f5aa1	2	29	3e-10	SMART
PDB:4LT6\|B	2	38	4e-16	PDB

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,450,189 (GRCm39)	V119M	probably damaging	Het
Acss2	T	C	2: 155,399,100 (GRCm39)	V454A	probably damaging	Het
Adam6b	T	A	12: 113,453,784 (GRCm39)	D200E	probably benign	Het
Adarb1	T	A	10: 77,131,712 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,924,078 (GRCm39)	V1281A	possibly damaging	Het
Brdt	A	G	5: 107,518,160 (GRCm39)	E761G	possibly damaging	Het
Bsn	A	T	9: 107,987,718 (GRCm39)	I2678N	unknown	Het
C2cd2	A	T	16: 97,676,580 (GRCm39)	C136S		Het
Camk4	A	G	18: 33,318,178 (GRCm39)	D445G	probably benign	Het
Cckar	T	C	5: 53,864,624 (GRCm39)	T26A	probably damaging	Het
Cd209a	T	A	8: 3,798,857 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,056 (GRCm39)	F379S	probably benign	Het
Crhr1	A	G	11: 104,054,719 (GRCm39)		probably null	Het
Cryzl1	T	C	16: 91,509,085 (GRCm39)	E72G	probably benign	Het
Ctnnal1	T	A	4: 56,826,285 (GRCm39)	E526V	possibly damaging	Het
Cyp3a41a	T	C	5: 145,650,374 (GRCm39)	I90V	possibly damaging	Het
Dek	T	C	13: 47,259,053 (GRCm39)	E51G	unknown	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Evc2	T	A	5: 37,544,477 (GRCm39)	V742E	probably damaging	Het
Fat4	G	A	3: 38,944,358 (GRCm39)	V1084M	probably damaging	Het
Fscb	G	A	12: 64,518,598 (GRCm39)	T956I	unknown	Het
Glipr2	T	C	4: 43,968,184 (GRCm39)	L29P	probably damaging	Het
Gm19402	A	T	10: 77,526,261 (GRCm39)	S111T	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,738,843 (GRCm39)	K115E	probably benign	Het
Gpn1	T	A	5: 31,658,465 (GRCm39)	F147I	probably damaging	Het
Gsdmd	T	A	15: 75,737,618 (GRCm39)	L232H	probably benign	Het
Helz2	A	G	2: 180,880,216 (GRCm39)	V500A	possibly damaging	Het
Hemk1	T	C	9: 107,214,267 (GRCm39)	E55G	probably benign	Het
Hs2st1	A	T	3: 144,141,221 (GRCm39)		probably null	Het
Ighv1-63	A	G	12: 115,459,486 (GRCm39)	V37A	probably damaging	Het
Iqsec3	C	A	6: 121,360,991 (GRCm39)	E956*	probably null	Het
Kcnh8	T	A	17: 53,201,129 (GRCm39)	I521K	probably damaging	Het
Kif3c	T	A	12: 3,437,592 (GRCm39)	M531K	probably benign	Het
Kif5c	T	A	2: 49,648,671 (GRCm39)		probably null	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lcor	T	C	19: 41,573,945 (GRCm39)	L900P	probably damaging	Het
Lrrc32	A	G	7: 98,149,014 (GRCm39)	D598G	probably benign	Het
Mug2	T	C	6: 122,060,425 (GRCm39)	V1387A	possibly damaging	Het
Nin	T	A	12: 70,102,803 (GRCm39)	E275V		Het
Or5p68	A	G	7: 107,945,703 (GRCm39)	F162L	probably benign	Het
Pcdhb20	A	G	18: 37,639,840 (GRCm39)	N789D	probably benign	Het
Pik3cg	C	T	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnn	T	A	12: 59,115,765 (GRCm39)	D135E	probably damaging	Het
Pold1	C	A	7: 44,192,847 (GRCm39)	R5L	possibly damaging	Het
Prl8a1	A	T	13: 27,758,089 (GRCm39)	F207I	probably damaging	Het
Prr11	A	G	11: 86,989,600 (GRCm39)	V257A	probably benign	Het
Prtg	C	T	9: 72,758,848 (GRCm39)	R401*	probably null	Het
Rasgrp1	A	G	2: 117,115,635 (GRCm39)	M651T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Snx13	A	T	12: 35,128,950 (GRCm39)	I23L	probably benign	Het
Snx7	A	G	3: 117,576,000 (GRCm39)	L429P	probably damaging	Het
Spta1	C	T	1: 174,025,201 (GRCm39)	Q689*	probably null	Het
Spty2d1	T	C	7: 46,648,692 (GRCm39)	D79G	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,515 (GRCm39)		probably null	Het
Tnxb	T	C	17: 34,936,228 (GRCm39)	F2722L	possibly damaging	Het
Tppp2	C	T	14: 52,156,865 (GRCm39)	R81C	probably benign	Het
Trim6	G	T	7: 103,881,843 (GRCm39)	A391S	probably benign	Het
Trim69	A	C	2: 122,009,064 (GRCm39)	T375P	possibly damaging	Het
Trim72	A	G	7: 127,603,858 (GRCm39)	N68S	possibly damaging	Het
Trrap	G	A	5: 144,726,208 (GRCm39)	V386I	probably benign	Het
Ttn	T	C	2: 76,778,275 (GRCm39)	I1371V	unknown	Het
Usp17lb	A	T	7: 104,490,913 (GRCm39)		probably null	Het
Vmn2r20	A	T	6: 123,362,468 (GRCm39)	L772Q	probably damaging	Het
Ypel3	A	G	7: 126,379,200 (GRCm39)	E91G	probably benign	Het
Zbtb21	C	T	16: 97,751,569 (GRCm39)	E905K	possibly damaging	Het
Zfp189	T	A	4: 49,530,417 (GRCm39)	C507S	possibly 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
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
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
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'- CCTGTCTCTCAGAACAAGGAC -3'
(R):5'- TGGCGTTGTCTCAAACATGAG -3'

Sequencing Primer
(F):5'- TGTCTCTCAGAACAAGGACATAATC -3'
(R):5'- GCGTTGTCTCAAACATGAGCTTAAAG -3'

Posted On

2019-09-13