Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Papolg'

21230

Institutional Source

Beutler Lab

Gene Symbol

Papolg

Ensembl Gene

ENSMUSG00000020273

Gene Name

poly(A) polymerase gamma

Synonyms

9630006B20Rik

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R0124 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

23812646-23845253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23817535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 582 (A582T)

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: A582T

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: A582T

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

unknown
Transcript: ENSMUST00000145013
AA Change: A113T

SMART Domains

Protein: ENSMUSP00000115518
Gene: ENSMUSG00000020273
AA Change: A113T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150711

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,656 (GRCm39)	T194A	probably benign	Het
Afap1	C	T	5: 36,102,553 (GRCm39)	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,449,698 (GRCm39)	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,389,605 (GRCm39)	T1717I	probably damaging	Het
Atad2b	A	G	12: 5,002,676 (GRCm39)	K348R	probably benign	Het
Bcl3	C	T	7: 19,543,576 (GRCm39)	V5M	probably damaging	Het
C2cd3	A	G	7: 100,118,725 (GRCm39)	E2321G	probably benign	Het
Casq1	C	T	1: 172,037,992 (GRCm39)	V380M	probably damaging	Het
Cd209e	T	A	8: 3,901,274 (GRCm39)	T127S	probably benign	Het
Cdh23	G	T	10: 60,143,835 (GRCm39)	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,410 (GRCm39)	L750P	probably damaging	Het
Cdk12	T	C	11: 98,102,073 (GRCm39)		probably benign	Het
Ces5a	T	C	8: 94,255,183 (GRCm39)	E170G	probably damaging	Het
Clec4f	A	G	6: 83,629,335 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,565,539 (GRCm39)	N264S	unknown	Het
Col2a1	T	A	15: 97,896,743 (GRCm39)	I43F	unknown	Het
Col4a2	A	G	8: 11,458,871 (GRCm39)		probably benign	Het
Csmd3	T	A	15: 47,454,112 (GRCm39)	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,982,546 (GRCm39)	L128P	probably damaging	Het
Dennd2b	A	G	7: 109,141,718 (GRCm39)	S132P	possibly damaging	Het
Dysf	A	G	6: 84,042,084 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,472,867 (GRCm39)	V225A	probably benign	Het
Eml1	A	G	12: 108,475,437 (GRCm39)	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,561,370 (GRCm39)	K64*	probably null	Het
Fat2	A	G	11: 55,174,504 (GRCm39)	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,520,583 (GRCm39)	H259N	probably benign	Het
Gm10764	A	T	10: 87,126,610 (GRCm39)	T6S	unknown	Het
Gm14412	A	G	2: 177,007,705 (GRCm39)		probably benign	Het
Heatr5b	A	T	17: 79,133,646 (GRCm39)		probably benign	Het
Hid1	T	C	11: 115,247,649 (GRCm39)	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,708,142 (GRCm39)		probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Lrriq1	C	T	10: 103,006,281 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,722,506 (GRCm39)	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,297 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,215,056 (GRCm39)	E1253G	probably damaging	Het
Nomo1	G	T	7: 45,732,652 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,268 (GRCm39)	I46F	possibly damaging	Het
Or4c116	A	T	2: 88,942,088 (GRCm39)	I256K	possibly damaging	Het
Or8a1b	A	G	9: 37,622,759 (GRCm39)	V272A	possibly damaging	Het
Plekhm3	C	T	1: 64,960,910 (GRCm39)	E449K	probably damaging	Het
Pole	T	G	5: 110,451,858 (GRCm39)	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,640,822 (GRCm39)		probably benign	Het
Pramel17	A	G	4: 101,692,570 (GRCm39)	*477Q	probably null	Het
Pros1	A	G	16: 62,734,309 (GRCm39)	T372A	possibly damaging	Het
Scara3	A	T	14: 66,168,670 (GRCm39)	S316T	probably benign	Het
Stau2	C	T	1: 16,533,352 (GRCm39)	A61T	probably damaging	Het
Stx3	T	C	19: 11,769,163 (GRCm39)	E54G	possibly damaging	Het
Sun1	T	C	5: 139,232,434 (GRCm39)		probably benign	Het
Swt1	A	T	1: 151,267,280 (GRCm39)	C634S	probably damaging	Het
Syt6	A	G	3: 103,494,842 (GRCm39)	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,870,887 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,481,640 (GRCm39)		probably null	Het
Ttc39d	T	C	17: 80,524,375 (GRCm39)	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,192,233 (GRCm39)	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,674 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,088,526 (GRCm39)	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,501,823 (GRCm39)	F63L	probably benign	Het
Zfp142	A	G	1: 74,607,782 (GRCm39)	Y1561H	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
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
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'- CAATCAAGCAGACTTCAGACCTCAGTG -3'
(R):5'- GGTTGCCCCATGATTAAGAACTTACGG -3'

Sequencing Primer
(F):5'- TacaaaacaaaacaaaacaaaaGGC -3'
(R):5'- TTAAGAACTTACGGAGTCGTGC -3'

Posted On

2013-04-11