Mutagenetix > Incidental Mutations

Incidental Mutation 'R7177:Papola'

558713

Institutional Source

Beutler Lab

Gene Symbol

Papola

Ensembl Gene

ENSMUSG00000021111

Gene Name

poly (A) polymerase alpha

Synonyms

PapIII, Plap

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105784694-105838944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105809531 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 235 (N235K)

Ref Sequence

ENSEMBL: ENSMUSP00000105527 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021535
AA Change: N235K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: N235K

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: N235K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: N235K

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: N235K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: N235K

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

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

probably benign
Transcript: ENSMUST00000164798

SMART Domains

Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111

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

probably benign
Transcript: ENSMUST00000166471

SMART Domains

Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111

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: ENSMUST00000166735
AA Change: N235K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: N235K

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

possibly damaging
Transcript: ENSMUST00000168186
AA Change: N235K

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: N235K

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

SMART Domains

Protein: ENSMUSP00000130798
Gene: ENSMUSG00000021111
AA Change: N50K

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

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

possibly damaging
Transcript: ENSMUST00000170002
AA Change: N235K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: N235K

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: ENSMUST00000170540

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	A	8: 45,970,407	E89D	possibly damaging	Het
4930550C14Rik	T	C	9: 53,414,385	L74S	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,425	S312P	probably benign	Het
5730409E04Rik	A	G	4: 126,611,732	S18G	probably benign	Het
Adam29	A	G	8: 55,872,624	I265T	probably benign	Het
Aff4	C	T	11: 53,406,639	S896L	probably benign	Het
Ankrd27	T	C	7: 35,619,397	I571T	probably damaging	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Carm1	C	T	9: 21,547,027	T7M	unknown	Het
Ccdc105	T	C	10: 78,752,490	D162G	probably damaging	Het
Ccdc183	A	G	2: 25,616,284	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Ceacam2	T	G	7: 25,520,916	D239A	probably benign	Het
Cmya5	T	C	13: 93,095,328	D1084G	probably benign	Het
Cog5	T	A	12: 31,760,889	I194K	probably damaging	Het
Col20a1	C	T	2: 180,994,214	Q211*	probably null	Het
Col9a1	T	A	1: 24,195,417	L13Q	unknown	Het
Cracr2a	A	T	6: 127,608,706	M156L	probably benign	Het
Cts8	C	T	13: 61,251,691	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,316,719	L11Q	probably null	Het
Dhrs13	T	A	11: 78,034,382	C160S	probably benign	Het
Enthd1	T	A	15: 80,474,214	E368D	probably damaging	Het
Fbxo18	A	G	2: 11,755,711	I676T	probably damaging	Het
Fcgrt	T	C	7: 45,101,997	R176G	probably benign	Het
Gatd1	A	G	7: 141,411,034	F67L	possibly damaging	Het
Gm4353	G	A	7: 116,084,492	P23S	probably damaging	Het
Gm6882	T	A	7: 21,427,752	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,830,780	M1K	probably null	Het
Hook2	T	A	8: 84,991,417	S58T	probably benign	Het
Iqch	T	G	9: 63,421,835	*1072C	probably null	Het
Kmt2d	G	A	15: 98,850,386	T3019I	unknown	Het
Lmx1a	T	C	1: 167,846,678	S356P	probably benign	Het
Lrig3	A	G	10: 126,006,843	M546V	probably benign	Het
Lrrc1	C	A	9: 77,472,222	E96*	probably null	Het
Lrtm2	C	A	6: 119,317,152	M339I	probably damaging	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Map7d1	A	G	4: 126,236,985	C384R	probably damaging	Het
Mcur1	T	C	13: 43,544,536	D296G	probably damaging	Het
Mettl24	A	T	10: 40,810,512	H295L	probably damaging	Het
Mpl	A	G	4: 118,448,544		probably null	Het
Mrps5	T	C	2: 127,595,697	V148A	probably benign	Het
N4bp2	T	C	5: 65,807,548	V980A	probably damaging	Het
Ncaph	A	T	2: 127,116,586	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497	N156S	probably damaging	Het
Odf3l1	T	A	9: 56,849,978	M139L	possibly damaging	Het
Olfr1307	T	A	2: 111,945,156	Q100L	probably damaging	Het
Olfr1395	T	A	11: 49,149,185	C309*	probably null	Het
Pafah1b3	T	A	7: 25,295,232	I186L	probably benign	Het
Pcnx3	A	T	19: 5,687,499	M98K	probably benign	Het
Pkhd1l1	A	G	15: 44,467,404	N125S	probably damaging	Het
Pls1	T	A	9: 95,773,559	H380L	probably benign	Het
Plxna1	T	C	6: 89,323,329	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,441,620	S147A	probably benign	Het
Prdm10	T	C	9: 31,367,707	S1025P	probably benign	Het
Prkcd	T	A	14: 30,599,707	H510L	probably damaging	Het
Ptprh	T	A	7: 4,569,481	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,925,020	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Rnf207	A	G	4: 152,312,177	I459T	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Ryr3	A	T	2: 112,900,843	D727E	probably damaging	Het
Sdk2	C	T	11: 113,829,969	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,443,231	S11P	probably benign	Het
Sox4	A	G	13: 28,953,017	V2A	probably damaging	Het
Srf	A	G	17: 46,555,392	F146S	probably damaging	Het
Srrm2	T	C	17: 23,816,773	V797A	unknown	Het
Stk32c	T	C	7: 139,104,302	D463G	possibly damaging	Het
Syne2	C	A	12: 75,971,880	Y3384*	probably null	Het
Tmem55b	A	C	14: 50,930,177	M104R	possibly damaging	Het
Traip	T	A	9: 107,960,985	M139K	possibly damaging	Het
Trappc2l	T	A	8: 122,614,312	F100Y	probably damaging	Het
Ush1c	T	C	7: 46,229,219	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,294,961	R31C	possibly damaging	Het

Other mutations in Papola

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Papola	APN	12	105809597	nonsense	probably null
IGL02197:Papola	APN	12	105829183	missense	possibly damaging	0.90
IGL02511:Papola	APN	12	105809345	missense	probably damaging	0.99
IGL02608:Papola	APN	12	105809559	missense	probably damaging	1.00
IGL03081:Papola	APN	12	105818855	missense	probably damaging	1.00
IGL03378:Papola	APN	12	105809433	critical splice donor site	probably null
IGL03401:Papola	APN	12	105829122	missense	probably benign	0.19
R0027:Papola	UTSW	12	105833136	missense	probably benign	0.12
R0027:Papola	UTSW	12	105833136	missense	probably benign	0.12
R0325:Papola	UTSW	12	105807193	missense	probably damaging	1.00
R0372:Papola	UTSW	12	105818838	missense	probably benign	0.05
R1553:Papola	UTSW	12	105820410	missense	probably benign	0.30
R1746:Papola	UTSW	12	105807209	missense	probably benign	0.12
R1954:Papola	UTSW	12	105828273	splice site	probably null
R2424:Papola	UTSW	12	105827052	missense	probably benign	0.02
R4133:Papola	UTSW	12	105799658	missense	possibly damaging	0.83
R4156:Papola	UTSW	12	105800751	critical splice donor site	probably null
R4718:Papola	UTSW	12	105820448	missense	possibly damaging	0.72
R4814:Papola	UTSW	12	105799653	missense	probably damaging	1.00
R5115:Papola	UTSW	12	105826960	missense	probably benign	0.08
R5237:Papola	UTSW	12	105826960	missense	probably benign	0.08
R5372:Papola	UTSW	12	105827050	missense	probably benign	0.00
R5420:Papola	UTSW	12	105806495	missense	possibly damaging	0.95
R5430:Papola	UTSW	12	105809584	missense	probably damaging	1.00
R5831:Papola	UTSW	12	105823600	missense	probably benign	0.01
R5944:Papola	UTSW	12	105812385	missense	possibly damaging	0.87
R5956:Papola	UTSW	12	105811041	missense	probably damaging	1.00
R6143:Papola	UTSW	12	105826960	missense	probably benign	0.08
R6193:Papola	UTSW	12	105820346	missense	probably benign	0.42
R6413:Papola	UTSW	12	105806504	start gained	probably benign
R6490:Papola	UTSW	12	105804937	missense	probably benign	0.40
R6649:Papola	UTSW	12	105812307	missense	possibly damaging	0.72
R6891:Papola	UTSW	12	105809691	unclassified	probably benign
R7147:Papola	UTSW	12	105808638	start gained	probably benign
R7178:Papola	UTSW	12	105807184	missense	probably damaging	1.00
R7256:Papola	UTSW	12	105809345	missense	probably damaging	0.99
R7583:Papola	UTSW	12	105811045	missense	probably damaging	1.00
R8093:Papola	UTSW	12	105809577	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCCATTAATCAGGTTGCAGGG -3'
(R):5'- AACCAGCTGTAGAAATGTCACAG -3'

Sequencing Primer
(F):5'- CATCAAACTGTGGGCCAA -3'
(R):5'- AAGACTAAACTTCAGTGTCTACAATC -3'

Posted On

2019-06-26