Mutagenetix > Incidental Mutation

Incidental Mutation 'R5372:Papola'

428813

Institutional Source

Beutler Lab

Gene Symbol

Papola

Ensembl Gene

ENSMUSG00000021111

Gene Name

poly (A) polymerase alpha

Synonyms

PapIII, Plap

MMRRC Submission

042948-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R5372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105750953-105805203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105793309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 543 (K543R)

Ref Sequence

ENSEMBL: ENSMUSP00000105527 (fasta)

Gene Model

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

AlphaFold

Q61183

Predicted Effect

probably benign
Transcript: ENSMUST00000021535
AA Change: K543R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: K543R

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 benign
Transcript: ENSMUST00000109901
AA Change: K543R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: K543R

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 benign
Transcript: ENSMUST00000163473
AA Change: K543R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: K543R

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: K214R

SMART Domains

Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: K214R

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: K231R

SMART Domains

Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: K231R

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

probably benign
Transcript: ENSMUST00000168186
AA Change: K543R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: K543R

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 benign
Transcript: ENSMUST00000170002
AA Change: K543R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: K543R

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: ENSMUST00000172089

SMART Domains

Protein: ENSMUSP00000131729
Gene: ENSMUSG00000021111

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
low complexity region	55	77	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

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (89/93)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,848,988 (GRCm39)	D108E	probably damaging	Het
Abhd12b	A	G	12: 70,227,800 (GRCm39)	D194G	probably damaging	Het
Adck5	A	G	15: 76,478,707 (GRCm39)		probably benign	Het
Adgrb3	C	T	1: 25,167,940 (GRCm39)	V792I	probably benign	Het
Anxa8	G	A	14: 33,815,868 (GRCm39)	V174M	probably damaging	Het
Apol9b	A	T	15: 77,619,920 (GRCm39)	R239W	probably benign	Het
Arhgap26	A	G	18: 38,775,509 (GRCm39)		noncoding transcript	Het
Atrnl1	A	G	19: 57,743,968 (GRCm39)	Y1190C	probably benign	Het
Brinp3	T	G	1: 146,707,464 (GRCm39)	L376R	probably damaging	Het
Btbd2	A	T	10: 80,484,475 (GRCm39)	M132K	probably damaging	Het
C130073F10Rik	A	T	4: 101,747,684 (GRCm39)	I115K	probably damaging	Het
C1ra	T	A	6: 124,498,584 (GRCm39)	Y426N	probably damaging	Het
Cacna1b	A	T	2: 24,623,971 (GRCm39)	V203E	probably damaging	Het
Catsperg1	T	A	7: 28,910,137 (GRCm39)	D68V	probably benign	Het
Ccdc158	A	C	5: 92,780,419 (GRCm39)	S885A	possibly damaging	Het
Cdc42bpa	T	C	1: 179,892,544 (GRCm39)	V236A	probably damaging	Het
Cdca7	A	T	2: 72,312,793 (GRCm39)	E176D	probably damaging	Het
Cdk17	A	G	10: 93,061,901 (GRCm39)	D211G	probably benign	Het
Clca3a2	A	C	3: 144,503,286 (GRCm39)	M888R	probably benign	Het
Clcn7	T	A	17: 25,376,153 (GRCm39)	M568K	possibly damaging	Het
Clip1	G	T	5: 123,768,303 (GRCm39)	N811K	probably benign	Het
Col12a1	T	A	9: 79,585,648 (GRCm39)	Y1243F	probably damaging	Het
Dctn1	T	A	6: 83,167,192 (GRCm39)	D315E	probably damaging	Het
Dgcr2	T	C	16: 17,690,508 (GRCm39)	T41A	probably benign	Het
Dync2h1	G	A	9: 7,176,962 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,521,031 (GRCm39)	I1264V	unknown	Het
Fam167b	A	T	4: 129,472,092 (GRCm39)	L26Q	possibly damaging	Het
Fam178b	T	A	1: 36,603,929 (GRCm39)	I457F	possibly damaging	Het
Fgd4	A	T	16: 16,302,155 (GRCm39)	N133K	probably benign	Het
Fndc1	C	G	17: 7,984,042 (GRCm39)	V1295L	unknown	Het
Gad2	A	T	2: 22,580,255 (GRCm39)	D552V	possibly damaging	Het
Hars2	T	C	18: 36,923,534 (GRCm39)	Y361H	possibly damaging	Het
Heca	T	A	10: 17,790,887 (GRCm39)	S390C	probably damaging	Het
Hephl1	G	T	9: 15,009,195 (GRCm39)	Y132*	probably null	Het
Hormad1	T	A	3: 95,483,735 (GRCm39)	D182E	probably damaging	Het
Ifna15	G	A	4: 88,476,338 (GRCm39)	P49S	probably damaging	Het
Khsrp	T	C	17: 57,331,292 (GRCm39)	T429A	possibly damaging	Het
Magi2	A	G	5: 20,907,108 (GRCm39)	Q1094R	possibly damaging	Het
Map3k11	T	A	19: 5,740,990 (GRCm39)	I239K	probably damaging	Het
Mtus2	A	G	5: 148,250,222 (GRCm39)	T1319A	probably damaging	Het
Nup54	A	G	5: 92,565,716 (GRCm39)	I406T	probably damaging	Het
Nxpe2	T	C	9: 48,250,819 (GRCm39)	T43A	possibly damaging	Het
Nynrin	A	G	14: 56,105,948 (GRCm39)	E889G	probably benign	Het
Opa1	A	C	16: 29,404,937 (GRCm39)	H45P	probably benign	Het
Or14c44	T	A	7: 86,062,176 (GRCm39)	I202N	possibly damaging	Het
Or4f60	A	G	2: 111,902,454 (GRCm39)	I158T	probably benign	Het
Or56b2j	A	G	7: 104,353,002 (GRCm39)	D76G	probably benign	Het
Or8a1b	T	C	9: 37,623,234 (GRCm39)	M114V	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Plcxd3	G	A	15: 4,604,270 (GRCm39)	V293I	probably benign	Het
Polr2g	T	C	19: 8,774,667 (GRCm39)	Y72C	probably damaging	Het
Ppp1r21	A	G	17: 88,858,103 (GRCm39)	K205E	probably benign	Het
Ptpre	A	G	7: 135,255,669 (GRCm39)	K53E	possibly damaging	Het
Rasal3	T	C	17: 32,610,318 (GRCm39)	K990E	probably benign	Het
Rgs3	A	T	4: 62,570,934 (GRCm39)		probably benign	Het
Rhd	A	G	4: 134,611,943 (GRCm39)	T254A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scube3	G	T	17: 28,371,456 (GRCm39)	C57F	probably damaging	Het
Sh2d5	A	G	4: 137,982,010 (GRCm39)	D57G	possibly damaging	Het
Slc12a6	T	A	2: 112,177,705 (GRCm39)	L608*	probably null	Het
Slk	A	T	19: 47,613,832 (GRCm39)	N896I	probably damaging	Het
Smc6	A	G	12: 11,332,431 (GRCm39)	D211G	probably damaging	Het
Sox6	A	T	7: 115,149,386 (GRCm39)	Y371*	probably null	Het
Srcap	G	A	7: 127,156,785 (GRCm39)		probably null	Het
Stard5	T	A	7: 83,282,428 (GRCm39)	D80E	probably damaging	Het
Supv3l1	C	T	10: 62,268,136 (GRCm39)	V570M	probably damaging	Het
Syt7	G	T	19: 10,403,985 (GRCm39)	V180L	probably damaging	Het
Tacc2	T	A	7: 130,224,990 (GRCm39)	H558Q	probably benign	Het
Tas2r120	T	A	6: 132,634,446 (GRCm39)	M176K	possibly damaging	Het
Tmem135	A	T	7: 88,814,382 (GRCm39)		probably null	Het
Trim35	T	C	14: 66,534,715 (GRCm39)	V66A	possibly damaging	Het
Tspan12	A	G	6: 21,772,698 (GRCm39)	S284P	probably benign	Het
Ttll3	A	T	6: 113,378,382 (GRCm39)	K257*	probably null	Het
Uggt1	C	A	1: 36,283,141 (GRCm39)		probably benign	Het
Vmn2r7	T	A	3: 64,623,745 (GRCm39)	I283F	probably damaging	Het
Wdfy2	T	G	14: 63,192,334 (GRCm39)	H363Q	probably damaging	Het
Wdr4	T	A	17: 31,729,554 (GRCm39)	K95N	probably damaging	Het
Zfp141	T	C	7: 42,126,620 (GRCm39)	N91S	possibly damaging	Het
Zfp383	C	T	7: 29,614,695 (GRCm39)	R317*	probably null	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
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
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'- TCTAGAGGTACAAAGTCTTGGC -3'
(R):5'- TGACCAGATACTTCATAAGCTCC -3'

Sequencing Primer
(F):5'- AGAGGTACAAAGTCTTGGCTTTTTG -3'
(R):5'- GCTCCAATGAAATTTATCAGCTTGC -3'

Posted On

2016-09-06