Mutagenetix > Incidental Mutation

Incidental Mutation 'R4718:Papola'

500037

Institutional Source

Beutler Lab

Gene Symbol

Papola

Ensembl Gene

ENSMUSG00000021111

Gene Name

poly (A) polymerase alpha

Synonyms

PapIII, Plap

MMRRC Submission

041985-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105750953-105805203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105786707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 466 (T466I)

Ref Sequence

ENSEMBL: ENSMUSP00000126275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021535] [ENSMUST00000109901] [ENSMUST00000163473] [ENSMUST00000166329] [ENSMUST00000168186] [ENSMUST00000170002] [ENSMUST00000169938]

AlphaFold

Q61183

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021535
AA Change: T466I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: T466I

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	365	1.5e-111	PFAM
Pfam:NTP_transf_2	75	175	2.4e-11	PFAM
Pfam:PAP_RNA-bind	366	508	8.9e-38	PFAM
low complexity region	518	534	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	605	622	N/A	INTRINSIC
low complexity region	646	668	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109901
AA Change: T466I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: T466I

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:PAP_central	21	364	4.1e-120	PFAM
Pfam:NTP_transf_2	82	175	8.1e-16	PFAM
Pfam:PAP_RNA-bind	366	435	4.1e-21	PFAM
low complexity region	518	534	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	605	622	N/A	INTRINSIC
low complexity region	646	668	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163473
AA Change: T466I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: T466I

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	365	9.2e-112	PFAM
Pfam:NTP_transf_2	75	175	3.3e-11	PFAM
Pfam:PAP_RNA-bind	366	508	4.6e-38	PFAM
low complexity region	518	534	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	605	622	N/A	INTRINSIC
low complexity region	646	667	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000164798
AA Change: T137I

SMART Domains

Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: T137I

Domain	Start	End	E-Value	Type
Pfam:PAP_central	1	36	5.3e-8	PFAM
Pfam:PAP_RNA-bind	38	106	8.5e-22	PFAM
low complexity region	190	206	N/A	INTRINSIC
low complexity region	254	265	N/A	INTRINSIC
low complexity region	276	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166329

SMART Domains

Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	99	4.8e-17	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000166471
AA Change: T154I

SMART Domains

Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: T154I

Domain	Start	End	E-Value	Type
Pfam:PAP_central	1	53	9.5e-21	PFAM
Pfam:PAP_RNA-bind	55	123	1.3e-21	PFAM
low complexity region	207	223	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	294	311	N/A	INTRINSIC
low complexity region	335	357	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168186
AA Change: T466I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: T466I

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	365	1.1e-111	PFAM
Pfam:NTP_transf_2	75	175	3.6e-11	PFAM
Pfam:PAP_RNA-bind	366	508	5e-38	PFAM
low complexity region	518	534	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	605	622	N/A	INTRINSIC
low complexity region	646	668	N/A	INTRINSIC
low complexity region	698	712	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170002
AA Change: T466I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: T466I

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	365	1e-111	PFAM
Pfam:NTP_transf_2	75	175	3.5e-11	PFAM
Pfam:PAP_RNA-bind	366	508	4.8e-38	PFAM
low complexity region	518	534	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC
low complexity region	605	622	N/A	INTRINSIC
low complexity region	646	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169938

SMART Domains

Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	157	4.5e-17	PFAM
Pfam:NTP_transf_2	74	166	2.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170189

Predicted Effect

probably benign
Transcript: ENSMUST00000169524

SMART Domains

Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111

Domain	Start	End	E-Value	Type
Pfam:PAP_central	1	95	5e-58	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,001,615 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,172,826 (GRCm39)	Y147F	probably damaging	Het
Alg12	A	T	15: 88,690,256 (GRCm39)	Y413N	probably damaging	Het
Arrdc3	A	T	13: 81,031,986 (GRCm39)	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,066,922 (GRCm39)	K1017E	probably damaging	Het
Bmal1	A	T	7: 112,902,568 (GRCm39)	I399F	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,206,107 (GRCm39)	Y47*	probably null	Het
Crat	A	T	2: 30,298,176 (GRCm39)	Y174*	probably null	Het
Csmd3	G	T	15: 47,561,546 (GRCm39)	Y2254*	probably null	Het
Cyld	T	A	8: 89,468,933 (GRCm39)	I568N	probably damaging	Het
Dapl1	T	C	2: 59,315,072 (GRCm39)	V7A	probably benign	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah9	A	G	11: 65,976,299 (GRCm39)	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,133,061 (GRCm39)	D114N	probably benign	Het
Dsg1b	A	G	18: 20,530,986 (GRCm39)	N446D	probably damaging	Het
Dthd1	T	A	5: 62,976,136 (GRCm39)	V270E	probably damaging	Het
F2rl3	A	C	8: 73,489,536 (GRCm39)	R254S	possibly damaging	Het
Fgfr2	A	G	7: 129,863,518 (GRCm39)	S24P	probably damaging	Het
Fpr2	T	C	17: 18,113,598 (GRCm39)	V198A	probably benign	Het
Gbp2b	G	A	3: 142,304,756 (GRCm39)	G64D	probably damaging	Het
Gbp9	T	G	5: 105,231,624 (GRCm39)	N321H	probably damaging	Het
Gk2	T	A	5: 97,603,725 (GRCm39)	Y371F	probably benign	Het
Gm10382	T	C	5: 125,466,462 (GRCm39)		probably benign	Het
Gpatch3	A	G	4: 133,309,855 (GRCm39)	D396G	probably benign	Het
Heatr5a	A	C	12: 51,962,946 (GRCm39)	L985V	possibly damaging	Het
Homer1	T	A	13: 93,528,272 (GRCm39)	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,607,692 (GRCm39)	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,876,089 (GRCm39)	I5M	possibly damaging	Het
Ints7	T	A	1: 191,315,389 (GRCm39)	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,776,603 (GRCm39)		probably null	Het
Junb	G	A	8: 85,705,061 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,020,992 (GRCm39)	N116S	probably benign	Het
Lrguk	A	G	6: 34,006,431 (GRCm39)	T14A	probably benign	Het
Lrrcc1	T	A	3: 14,601,092 (GRCm39)	H41Q	probably damaging	Het
Ltb	C	A	17: 35,414,313 (GRCm39)		probably null	Het
Mapk7	A	G	11: 61,380,080 (GRCm39)	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,146,414 (GRCm39)	H208L	possibly damaging	Het
Megf9	A	T	4: 70,367,015 (GRCm39)	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,224,467 (GRCm39)	V227A	probably damaging	Het
Mospd3	G	A	5: 137,597,915 (GRCm39)	T151M	probably benign	Het
Mpl	A	G	4: 118,313,921 (GRCm39)	S115P	probably benign	Het
Myo6	C	A	9: 80,153,799 (GRCm39)	D258E	probably benign	Het
N4bp2	G	A	5: 65,960,806 (GRCm39)	M492I	probably damaging	Het
Ndst3	G	A	3: 123,465,915 (GRCm39)	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,601,082 (GRCm39)	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,342,803 (GRCm39)	T281A	probably benign	Het
Nmur1	A	G	1: 86,315,463 (GRCm39)	V157A	probably damaging	Het
Obscn	A	T	11: 58,912,780 (GRCm39)	F6992L	probably damaging	Het
Ocm	G	T	5: 143,961,375 (GRCm39)	P22Q	possibly damaging	Het
Or5be3	T	C	2: 86,864,239 (GRCm39)	T109A	probably damaging	Het
Osbp2	C	A	11: 3,661,793 (GRCm39)	C753F	probably damaging	Het
Pabpc2	A	G	18: 39,907,556 (GRCm39)	T274A	probably benign	Het
Pamr1	T	A	2: 102,472,681 (GRCm39)	I660N	probably damaging	Het
Pask	T	C	1: 93,249,918 (GRCm39)	E494G	possibly damaging	Het
Pck1	A	T	2: 172,997,014 (GRCm39)	I219F	probably damaging	Het
Pgm3	T	C	9: 86,452,448 (GRCm39)	E4G	probably benign	Het
Pgs1	A	G	11: 117,896,709 (GRCm39)	H462R	probably damaging	Het
Phlpp2	T	A	8: 110,667,452 (GRCm39)	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,151,452 (GRCm39)	G3815W	probably damaging	Het
Plin4	T	A	17: 56,413,981 (GRCm39)	I215F	possibly damaging	Het
Plod1	T	G	4: 148,000,701 (GRCm39)		probably benign	Het
Ppfia2	T	C	10: 106,694,146 (GRCm39)	S707P	probably damaging	Het
Psmd12	A	G	11: 107,377,259 (GRCm39)	Q86R	probably benign	Het
Rasgrf2	C	A	13: 92,138,716 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,812,641 (GRCm39)	S926P	possibly damaging	Het
Rras2	A	T	7: 113,649,584 (GRCm39)	I160N	probably benign	Het
Slc27a6	A	T	18: 58,738,138 (GRCm39)	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,685,422 (GRCm39)	E239G	unknown	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Sptan1	A	G	2: 29,921,074 (GRCm39)	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,104,297 (GRCm39)	H136N	probably damaging	Het
Stau2	T	C	1: 16,416,269 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,624,495 (GRCm39)	D1818E	probably benign	Het
Tet1	T	A	10: 62,649,591 (GRCm39)	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,412,463 (GRCm39)	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,768,610 (GRCm39)	H59Q	probably benign	Het
Usp53	T	C	3: 122,727,631 (GRCm39)	I984V	probably benign	Het
Wdfy4	A	G	14: 32,867,273 (GRCm39)	I403T	probably benign	Het
Yars2	T	A	16: 16,127,204 (GRCm39)	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521 (GRCm39)	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,739,603 (GRCm39)	V478D	possibly damaging	Het

Other mutations in Papola

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Papola	APN	12	105,775,856 (GRCm39)	nonsense	probably null
IGL02197:Papola	APN	12	105,795,442 (GRCm39)	missense	possibly damaging	0.90
IGL02511:Papola	APN	12	105,775,604 (GRCm39)	missense	probably damaging	0.99
IGL02608:Papola	APN	12	105,775,818 (GRCm39)	missense	probably damaging	1.00
IGL03081:Papola	APN	12	105,785,114 (GRCm39)	missense	probably damaging	1.00
IGL03378:Papola	APN	12	105,775,692 (GRCm39)	critical splice donor site	probably null
IGL03401:Papola	APN	12	105,795,381 (GRCm39)	missense	probably benign	0.19
R0027:Papola	UTSW	12	105,799,395 (GRCm39)	missense	probably benign	0.12
R0027:Papola	UTSW	12	105,799,395 (GRCm39)	missense	probably benign	0.12
R0325:Papola	UTSW	12	105,773,452 (GRCm39)	missense	probably damaging	1.00
R0372:Papola	UTSW	12	105,785,097 (GRCm39)	missense	probably benign	0.05
R1553:Papola	UTSW	12	105,786,669 (GRCm39)	missense	probably benign	0.30
R1746:Papola	UTSW	12	105,773,468 (GRCm39)	missense	probably benign	0.12
R1954:Papola	UTSW	12	105,794,532 (GRCm39)	splice site	probably null
R2424:Papola	UTSW	12	105,793,311 (GRCm39)	missense	probably benign	0.02
R4133:Papola	UTSW	12	105,765,917 (GRCm39)	missense	possibly damaging	0.83
R4156:Papola	UTSW	12	105,767,010 (GRCm39)	critical splice donor site	probably null
R4814:Papola	UTSW	12	105,765,912 (GRCm39)	missense	probably damaging	1.00
R5115:Papola	UTSW	12	105,793,219 (GRCm39)	missense	probably benign	0.08
R5237:Papola	UTSW	12	105,793,219 (GRCm39)	missense	probably benign	0.08
R5372:Papola	UTSW	12	105,793,309 (GRCm39)	missense	probably benign	0.00
R5420:Papola	UTSW	12	105,772,754 (GRCm39)	missense	possibly damaging	0.95
R5430:Papola	UTSW	12	105,775,843 (GRCm39)	missense	probably damaging	1.00
R5831:Papola	UTSW	12	105,789,859 (GRCm39)	missense	probably benign	0.01
R5944:Papola	UTSW	12	105,778,644 (GRCm39)	missense	possibly damaging	0.87
R5956:Papola	UTSW	12	105,777,300 (GRCm39)	missense	probably damaging	1.00
R6143:Papola	UTSW	12	105,793,219 (GRCm39)	missense	probably benign	0.08
R6193:Papola	UTSW	12	105,786,605 (GRCm39)	missense	probably benign	0.42
R6413:Papola	UTSW	12	105,772,763 (GRCm39)	start gained	probably benign
R6490:Papola	UTSW	12	105,771,196 (GRCm39)	missense	probably benign	0.40
R6649:Papola	UTSW	12	105,778,566 (GRCm39)	missense	possibly damaging	0.72
R6891:Papola	UTSW	12	105,775,950 (GRCm39)	unclassified	probably benign
R7147:Papola	UTSW	12	105,774,897 (GRCm39)	start gained	probably benign
R7177:Papola	UTSW	12	105,775,790 (GRCm39)	missense	possibly damaging	0.95
R7178:Papola	UTSW	12	105,773,443 (GRCm39)	missense	probably damaging	1.00
R7256:Papola	UTSW	12	105,775,604 (GRCm39)	missense	probably damaging	0.99
R7583:Papola	UTSW	12	105,777,304 (GRCm39)	missense	probably damaging	1.00
R8093:Papola	UTSW	12	105,775,836 (GRCm39)	missense	probably damaging	0.96
R8945:Papola	UTSW	12	105,775,946 (GRCm39)	unclassified	probably benign
R9177:Papola	UTSW	12	105,766,032 (GRCm39)	missense	probably benign	0.00
R9249:Papola	UTSW	12	105,799,403 (GRCm39)	missense	probably benign	0.00
R9268:Papola	UTSW	12	105,766,032 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGTCAACTCATCAACAGC -3'
(R):5'- CAAGATGACTGAAATAGGCTGTTTG -3'

Sequencing Primer
(F):5'- TGTCAACTCATCAACAGCCTTGC -3'
(R):5'- GGCTGTTTGTCTCAAATTACAGAC -3'

Posted On

2017-11-30