Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Papola'

25778

Institutional Source

Beutler Lab

Gene Symbol

Papola

Ensembl Gene

ENSMUSG00000021111

Gene Name

poly (A) polymerase alpha

Synonyms

PapIII, Plap

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105750953-105805203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105773452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 157 (I157N)

Ref Sequence

ENSEMBL: ENSMUSP00000126275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021535] [ENSMUST00000109901] [ENSMUST00000163473] [ENSMUST00000164326] [ENSMUST00000166329] [ENSMUST00000166735] [ENSMUST00000169938] [ENSMUST00000168186] [ENSMUST00000170002] [ENSMUST00000170540]

AlphaFold

Q61183

Predicted Effect

probably damaging
Transcript: ENSMUST00000021535
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: I157N

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

probably damaging
Transcript: ENSMUST00000109901
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: I157N

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

probably damaging
Transcript: ENSMUST00000163473
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: I157N

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

noncoding transcript
Transcript: ENSMUST00000163805

Predicted Effect

probably benign
Transcript: ENSMUST00000164326

SMART Domains

Protein: ENSMUSP00000125818
Gene: ENSMUSG00000021111

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	64	9.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165584

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

probably damaging
Transcript: ENSMUST00000166735
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: I157N

Domain	Start	End	E-Value	Type
Pfam:PAP_central	17	283	9.4e-73	PFAM
Pfam:NTP_transf_2	72	175	5.7e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169938
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
AA Change: I157N

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

probably damaging
Transcript: ENSMUST00000168186
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: I157N

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

probably damaging
Transcript: ENSMUST00000170002
AA Change: I157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: I157N

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

noncoding transcript
Transcript: ENSMUST00000170831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166498

Predicted Effect

probably benign
Transcript: ENSMUST00000170540

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: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Adcyap1	A	G	17: 93,510,260 (GRCm39)	D96G	probably benign	Het
Adgrv1	C	T	13: 81,688,134 (GRCm39)	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,173,868 (GRCm39)	N180K	probably benign	Het
Ahdc1	G	T	4: 132,790,030 (GRCm39)	A424S	unknown	Het
Alpk3	G	A	7: 80,717,701 (GRCm39)	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,537,987 (GRCm39)	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,518,467 (GRCm39)	L124F	probably benign	Het
Bub1	A	T	2: 127,643,314 (GRCm39)	L1010*	probably null	Het
Cd300c	C	A	11: 114,850,411 (GRCm39)	E131*	probably null	Het
Cep135	A	G	5: 76,763,590 (GRCm39)	K527E	probably damaging	Het
Cfd	G	T	10: 79,727,592 (GRCm39)	E89*	probably null	Het
Crb1	A	C	1: 139,168,904 (GRCm39)	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,277 (GRCm39)	S147C	unknown	Het
Ddx60	A	T	8: 62,436,889 (GRCm39)	E946D	probably benign	Het
Dmrt1	G	A	19: 25,523,371 (GRCm39)	E241K	probably benign	Het
Dnah11	C	G	12: 117,976,074 (GRCm39)	V2782L	probably benign	Het
Dzip1	T	C	14: 119,146,969 (GRCm39)	I313M	probably damaging	Het
Egln3	T	C	12: 54,250,298 (GRCm39)	E17G	probably benign	Het
Eif3d	A	G	15: 77,852,420 (GRCm39)	V42A	probably damaging	Het
Elapor1	A	G	3: 108,368,567 (GRCm39)	L808P	probably damaging	Het
Eogt	C	A	6: 97,090,916 (GRCm39)	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Fmn2	T	A	1: 174,437,520 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,521,579 (GRCm39)	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,415,278 (GRCm39)	L116P	probably damaging	Het
Galnt6	A	T	15: 100,591,352 (GRCm39)		probably null	Het
Glmp	G	A	3: 88,232,391 (GRCm39)	M1I	probably null	Het
Gm5478	T	C	15: 101,552,761 (GRCm39)	D79G	probably damaging	Het
Gnb1	T	G	4: 155,636,140 (GRCm39)	D153E	probably benign	Het
Grik2	T	C	10: 49,116,821 (GRCm39)	I86V	probably damaging	Het
Hdac3	C	T	18: 38,074,005 (GRCm39)		probably null	Het
Hdgfl2	G	A	17: 56,406,181 (GRCm39)	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,473,180 (GRCm39)	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,401,678 (GRCm39)	W476R	probably benign	Het
Jag1	A	G	2: 136,937,365 (GRCm39)		probably null	Het
Kars1	T	C	8: 112,734,848 (GRCm39)	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,682 (GRCm39)	I129V	probably damaging	Het
Lama3	A	C	18: 12,615,183 (GRCm39)	D1369A	probably damaging	Het
Lars1	A	T	18: 42,383,967 (GRCm39)	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,854,274 (GRCm39)	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,741,723 (GRCm39)	D3068G	probably damaging	Het
Med12l	A	G	3: 58,984,480 (GRCm39)	T462A	possibly damaging	Het
Megf9	T	A	4: 70,374,178 (GRCm39)	D286V	probably damaging	Het
Meox1	T	A	11: 101,770,227 (GRCm39)	S167C	probably damaging	Het
Mier2	C	T	10: 79,378,430 (GRCm39)		probably null	Het
Mrps2	C	A	2: 28,359,791 (GRCm39)	T216K	probably damaging	Het
Mto1	A	T	9: 78,360,286 (GRCm39)	D258V	probably damaging	Het
Mug1	A	T	6: 121,826,801 (GRCm39)	H208L	probably benign	Het
Myo15b	T	A	11: 115,775,091 (GRCm39)	I751N	probably damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg4	T	A	8: 96,437,563 (GRCm39)	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,325,476 (GRCm39)	M973R	probably benign	Het
Nxph4	C	T	10: 127,362,780 (GRCm39)	R37H	probably damaging	Het
Oas1e	A	G	5: 120,933,460 (GRCm39)	I35T	probably damaging	Het
Oc90	C	T	15: 65,769,514 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Or52d3	A	T	7: 104,229,567 (GRCm39)	D238V	probably damaging	Het
Or8j3	G	A	2: 86,029,055 (GRCm39)	L14F	possibly damaging	Het
Or8k30	A	T	2: 86,339,549 (GRCm39)	T249S	probably benign	Het
Or9a7	A	T	6: 40,521,057 (GRCm39)	N285K	possibly damaging	Het
Pcyox1l	G	C	18: 61,830,964 (GRCm39)	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,703,752 (GRCm39)	N728S	probably benign	Het
Pkp4	A	G	2: 59,148,873 (GRCm39)	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Poln	C	T	5: 34,307,108 (GRCm39)	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,640,900 (GRCm39)	A484T	probably benign	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Pramel28	A	T	4: 143,693,310 (GRCm39)	V56E	probably damaging	Het
Prex2	G	A	1: 11,270,281 (GRCm39)		probably null	Het
Prrc2b	G	T	2: 32,089,103 (GRCm39)	W403L	probably damaging	Het
Pter	A	T	2: 13,005,748 (GRCm39)	K307M	probably damaging	Het
Ptpn5	G	A	7: 46,740,506 (GRCm39)	S99L	probably benign	Het
Ptpn5	A	C	7: 46,740,507 (GRCm39)	S99A	probably benign	Het
Rpap1	A	C	2: 119,602,321 (GRCm39)	H674Q	probably benign	Het
Rph3a	A	T	5: 121,081,127 (GRCm39)	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,734,588 (GRCm39)	E25D	probably benign	Het
Septin9	T	G	11: 117,247,458 (GRCm39)	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,055,856 (GRCm39)	D680G	probably benign	Het
Sgo2b	A	T	8: 64,381,410 (GRCm39)	I474N	probably benign	Het
Sgsm1	A	T	5: 113,436,701 (GRCm39)	I43N	probably damaging	Het
Shprh	G	A	10: 11,045,853 (GRCm39)	M891I	probably benign	Het
Skic2	A	T	17: 35,063,791 (GRCm39)	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,321,108 (GRCm39)	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,640,941 (GRCm39)	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,927,688 (GRCm39)	D296G	probably benign	Het
Sncaip	A	G	18: 53,038,881 (GRCm39)	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,301,480 (GRCm39)		probably null	Het
Spata16	A	G	3: 26,721,605 (GRCm39)	E42G	probably damaging	Het
Spata31e2	G	T	1: 26,724,347 (GRCm39)	Q278K	possibly damaging	Het
Syne2	A	T	12: 76,009,415 (GRCm39)	M2440L	probably benign	Het
Taf7l2	T	C	10: 115,949,474 (GRCm39)	I17M	probably damaging	Het
Tead2	A	G	7: 44,875,179 (GRCm39)	E232G	probably damaging	Het
Tmf1	T	G	6: 97,153,465 (GRCm39)	T203P	possibly damaging	Het
Trrap	C	A	5: 144,753,205 (GRCm39)	H1843Q	probably benign	Het
Unc79	C	A	12: 103,137,903 (GRCm39)	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,550,040 (GRCm39)	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,298,764 (GRCm39)	L46P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,773 (GRCm39)	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,639,961 (GRCm39)	V403A	probably damaging	Het
Zfp42	T	C	8: 43,748,988 (GRCm39)	E171G	probably damaging	Het
Zfp64	A	T	2: 168,767,960 (GRCm39)	S551T	probably benign	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
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
R4718:Papola	UTSW	12	105,786,707 (GRCm39)	missense	possibly damaging	0.72
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'- ACACAGTGTGAACAGCCACATTTCC -3'
(R):5'- TGCAGTAGCCTCAGTCCTAAGTCC -3'

Sequencing Primer
(F):5'- tggaaagtagaggcaggagg -3'
(R):5'- CCACTTCCGCTTAAAGAGTTAG -3'

Posted On

2013-04-16