Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Papolg'

565808

Institutional Source

Beutler Lab

Gene Symbol

Papolg

Ensembl Gene

ENSMUSG00000020273

Gene Name

poly(A) polymerase gamma

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23862646-23895253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23867394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 601 (V601A)

Ref Sequence

ENSEMBL: ENSMUSP00000020513 (fasta)

Gene Model

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

AlphaFold

Q6PCL9

Predicted Effect

not run
Transcript: ENSMUST00000020513
AA Change: V601A

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: V601A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	Het

Other mutations in Papolg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Papolg	APN	11	23876377	missense	possibly damaging	0.93
IGL01016:Papolg	APN	11	23885570	missense	possibly damaging	0.58
IGL01394:Papolg	APN	11	23867235	missense	probably benign
IGL01710:Papolg	APN	11	23864026	missense	probably damaging	0.99
IGL01786:Papolg	APN	11	23874488	missense	probably damaging	1.00
IGL02008:Papolg	APN	11	23879898	missense	probably damaging	1.00
IGL02127:Papolg	APN	11	23870870	unclassified	probably benign
IGL02329:Papolg	APN	11	23891869	missense	probably damaging	0.98
IGL02535:Papolg	APN	11	23890245	missense	probably benign	0.00
IGL02588:Papolg	APN	11	23890252	missense	probably damaging	1.00
IGL03058:Papolg	APN	11	23895029	missense	probably benign	0.00
IGL03301:Papolg	APN	11	23874503	missense	probably benign	0.05
Runningback	UTSW	11	23873919	splice site	probably null
R0124:Papolg	UTSW	11	23867535	missense	probably benign	0.21
R0369:Papolg	UTSW	11	23872425	critical splice donor site	probably null
R0454:Papolg	UTSW	11	23879868	splice site	probably null
R0743:Papolg	UTSW	11	23870818	splice site	probably null
R0931:Papolg	UTSW	11	23882257	missense	probably damaging	0.96
R1856:Papolg	UTSW	11	23867379	missense	probably benign	0.06
R1940:Papolg	UTSW	11	23867279	missense	probably benign	0.00
R2239:Papolg	UTSW	11	23876378	missense	probably damaging	0.99
R3802:Papolg	UTSW	11	23876449	missense	probably damaging	1.00
R4275:Papolg	UTSW	11	23868378	missense	probably benign
R4989:Papolg	UTSW	11	23873919	splice site	probably null
R5074:Papolg	UTSW	11	23867331	missense	possibly damaging	0.78
R5122:Papolg	UTSW	11	23867501	critical splice donor site	probably null
R6048:Papolg	UTSW	11	23891815	missense	probably benign	0.04
R6365:Papolg	UTSW	11	23882290	missense	probably damaging	1.00
R6577:Papolg	UTSW	11	23879857	critical splice donor site	probably benign
R7117:Papolg	UTSW	11	23895207	start gained	probably benign
R7372:Papolg	UTSW	11	23866439	missense	probably benign	0.16
R7761:Papolg	UTSW	11	23891884	missense	probably benign	0.05
R8503:Papolg	UTSW	11	23870292	missense	probably benign	0.01
R9212:Papolg	UTSW	11	23873817	missense	probably benign

Predicted Primers

Posted On

2019-06-26