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

9630006B20Rik

MMRRC Submission

045361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23812646-23845253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23817394 bp (GRCm39)

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
4833439L19Rik	A	G	13: 54,700,504 (GRCm39)	V278A	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abce1	C	A	8: 80,411,885 (GRCm39)	G592*	probably null	Het
Acad10	A	C	5: 121,787,538 (GRCm39)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,253,563 (GRCm39)	I672V	not run	Het
Adgrb1	A	T	15: 74,452,512 (GRCm39)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,768,955 (GRCm39)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,537,469 (GRCm39)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,652 (GRCm39)	T33I	probably damaging	Het
Bicra	T	C	7: 15,706,425 (GRCm39)	T1339A	probably damaging	Het
Bltp2	A	G	11: 78,165,654 (GRCm39)	Q1346R	probably damaging	Het
Cacna1s	A	G	1: 136,001,446 (GRCm39)	Y299C	probably damaging	Het
Clip1	A	C	5: 123,751,857 (GRCm39)	C641W		Het
Clip3	T	C	7: 30,005,237 (GRCm39)	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,191,144 (GRCm39)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,466,339 (GRCm39)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,903,818 (GRCm39)	N280I	probably benign	Het
Diaph3	A	G	14: 87,104,020 (GRCm39)	F788S	probably damaging	Het
Drc7	A	G	8: 95,798,207 (GRCm39)	N484S	probably damaging	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fat4	A	T	3: 38,943,842 (GRCm39)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,649,673 (GRCm39)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,812,061 (GRCm39)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm39)		probably null	Het
Ipo8	T	A	6: 148,725,979 (GRCm39)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,100,693 (GRCm39)	M1T	probably null	Het
Klrb1c	A	T	6: 128,761,220 (GRCm39)	C136S	probably benign	Het
Morn2	A	G	17: 80,604,688 (GRCm39)	E48G	probably damaging	Het
Myh1	A	T	11: 67,092,670 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,686,393 (GRCm39)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,765,741 (GRCm39)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,343,352 (GRCm39)	R76*	probably null	Het
Or1e1f	T	C	11: 73,855,634 (GRCm39)	S67P	probably damaging	Het
Or52n1	G	T	7: 104,382,800 (GRCm39)	T257K	probably damaging	Het
Or5h22	A	T	16: 58,894,555 (GRCm39)	M296K	probably benign	Het
Or7e176	A	C	9: 20,171,555 (GRCm39)	I140L	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Pde4dip	T	C	3: 97,666,198 (GRCm39)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,017,741 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,366,676 (GRCm39)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,546,401 (GRCm39)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,327,191 (GRCm39)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,231,471 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,535,628 (GRCm39)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm39)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,610,261 (GRCm39)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,263,342 (GRCm39)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,354,469 (GRCm39)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,449,892 (GRCm39)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm39)	G240R	probably damaging	Het
Scn10a	A	G	9: 119,493,845 (GRCm39)		probably null	Het
Serpina16	A	C	12: 103,638,691 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,039,831 (GRCm39)	M290L		Het
Slc6a4	A	T	11: 76,901,522 (GRCm39)	M86L	probably benign	Het
Spag7	A	T	11: 70,556,139 (GRCm39)	V46E	probably benign	Het
Spata31h1	G	A	10: 82,127,131 (GRCm39)	R1960W	possibly damaging	Het
Sptlc1	T	C	13: 53,498,914 (GRCm39)	I271V	probably benign	Het
Stk17b	A	C	1: 53,796,674 (GRCm39)	H364Q	probably benign	Het
Strc	T	C	2: 121,209,933 (GRCm39)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,705,026 (GRCm39)	D148V	probably damaging	Het
Tirap	G	A	9: 35,100,225 (GRCm39)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem51	T	A	4: 141,759,094 (GRCm39)	D218V	probably damaging	Het
Trim40	A	T	17: 37,193,554 (GRCm39)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,039,062 (GRCm39)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,002,914 (GRCm39)	L108P	probably damaging	Het
Washc2	C	A	6: 116,204,379 (GRCm39)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,502,137 (GRCm39)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm39)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,273,493 (GRCm39)	A724G	unknown	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
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

Posted On

2019-06-26