Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Parp14'

481979

Institutional Source

Beutler Lab

Gene Symbol

Parp14

Ensembl Gene

ENSMUSG00000034422

Gene Name

poly (ADP-ribose) polymerase family, member 14

Synonyms

collaborator of Stat6, 1600029O10Rik, CoaSt6

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35832874-35871544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35841457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1403 (P1403S)

Ref Sequence

ENSEMBL: ENSMUSP00000037657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042665]

AlphaFold

Q2EMV9

PDB Structure

Solution structure of WWE domain in Parp14 protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000042665
AA Change: P1403S

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037657
Gene: ENSMUSG00000034422
AA Change: P1403S

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
RRM	228	297	4.71e-2	SMART
coiled coil region	443	468	N/A	INTRINSIC
Blast:A1pp	693	746	6e-6	BLAST
low complexity region	771	795	N/A	INTRINSIC
A1pp	814	948	7.62e-41	SMART
A1pp	1026	1160	5.88e-24	SMART
A1pp	1239	1358	6.82e-20	SMART
PDB:1X4R\|A	1532	1619	9e-53	PDB
Pfam:PARP	1632	1817	2.5e-29	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit altered B cell subsets and inability to respond to the apoptosis protective affects of IL4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	Het

Other mutations in Parp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Parp14	APN	16	35841075	missense	probably benign	0.00
IGL00497:Parp14	APN	16	35834836	missense	probably damaging	1.00
IGL00754:Parp14	APN	16	35839371	missense	probably benign	0.15
IGL00960:Parp14	APN	16	35841219	missense	probably benign	0.20
IGL01321:Parp14	APN	16	35856559	missense	probably benign
IGL01397:Parp14	APN	16	35858728	missense	probably benign	0.19
IGL01591:Parp14	APN	16	35858507	missense	possibly damaging	0.71
IGL01728:Parp14	APN	16	35857435	missense	probably damaging	1.00
IGL01734:Parp14	APN	16	35858600	missense	probably benign	0.00
IGL02156:Parp14	APN	16	35858597	missense	probably benign	0.13
IGL02951:Parp14	APN	16	35858533	missense	probably benign	0.06
IGL03067:Parp14	APN	16	35856508	missense	probably benign	0.10
IGL03135:Parp14	APN	16	35858011	missense	probably damaging	1.00
IGL03141:Parp14	APN	16	35839293	missense	probably benign	0.00
IGL03146:Parp14	APN	16	35858453	nonsense	probably null
IGL03333:Parp14	APN	16	35841430	missense	probably benign	0.08
IGL03391:Parp14	APN	16	35858270	missense	probably benign
thurston	UTSW	16	35844415	splice site	probably benign
PIT4585001:Parp14	UTSW	16	35858605	missense	probably benign	0.03
R0306:Parp14	UTSW	16	35856574	missense	probably benign
R0506:Parp14	UTSW	16	35841409	missense	possibly damaging	0.70
R0586:Parp14	UTSW	16	35841012	missense	probably benign	0.00
R0606:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R0612:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R0699:Parp14	UTSW	16	35860585	missense	probably damaging	1.00
R0786:Parp14	UTSW	16	35840802	missense	possibly damaging	0.86
R0883:Parp14	UTSW	16	35858518	missense	probably benign	0.03
R0900:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1087:Parp14	UTSW	16	35858288	missense	probably damaging	1.00
R1104:Parp14	UTSW	16	35844415	splice site	probably benign
R1120:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1134:Parp14	UTSW	16	35834902	missense	probably damaging	1.00
R1153:Parp14	UTSW	16	35857671	missense	possibly damaging	0.49
R1159:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1160:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1237:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1238:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1239:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1423:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1511:Parp14	UTSW	16	35857224	missense	probably benign	0.00
R1518:Parp14	UTSW	16	35856638	missense	possibly damaging	0.79
R1619:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1707:Parp14	UTSW	16	35857849	missense	probably damaging	1.00
R1792:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1831:Parp14	UTSW	16	35858588	missense	possibly damaging	0.77
R1840:Parp14	UTSW	16	35863449	missense	probably damaging	1.00
R1889:Parp14	UTSW	16	35856760	missense	probably benign	0.09
R1902:Parp14	UTSW	16	35853518	critical splice donor site	probably null
R1943:Parp14	UTSW	16	35836129	missense	probably damaging	1.00
R1954:Parp14	UTSW	16	35858301	missense	probably benign	0.08
R2115:Parp14	UTSW	16	35858534	missense	probably benign	0.16
R2216:Parp14	UTSW	16	35857205	missense	probably benign	0.00
R2519:Parp14	UTSW	16	35858203	missense	possibly damaging	0.95
R3851:Parp14	UTSW	16	35853748	missense	possibly damaging	0.92
R4052:Parp14	UTSW	16	35858401	missense	probably benign	0.05
R4671:Parp14	UTSW	16	35858321	missense	probably benign	0.00
R4867:Parp14	UTSW	16	35857327	missense	probably benign	0.01
R4941:Parp14	UTSW	16	35846033	missense	probably benign
R4992:Parp14	UTSW	16	35841142	missense	probably benign	0.05
R5055:Parp14	UTSW	16	35844363	missense	probably benign	0.00
R5073:Parp14	UTSW	16	35834707	missense	probably damaging	0.99
R5170:Parp14	UTSW	16	35857279	missense	probably benign	0.21
R5422:Parp14	UTSW	16	35866175	missense	probably benign	0.01
R5543:Parp14	UTSW	16	35834767	missense	probably benign	0.00
R5549:Parp14	UTSW	16	35841135	missense	probably benign	0.00
R5553:Parp14	UTSW	16	35856936	missense	probably benign	0.01
R5691:Parp14	UTSW	16	35863539	missense	probably benign	0.12
R5774:Parp14	UTSW	16	35858410	missense	probably damaging	1.00
R5855:Parp14	UTSW	16	35840927	nonsense	probably null
R5942:Parp14	UTSW	16	35839367	missense	probably damaging	0.98
R5991:Parp14	UTSW	16	35841457	missense	probably benign	0.14
R6018:Parp14	UTSW	16	35841457	missense	probably benign	0.14
R6022:Parp14	UTSW	16	35841457	missense	probably benign	0.14
R6075:Parp14	UTSW	16	35857019	missense	probably damaging	0.99
R6395:Parp14	UTSW	16	35856548	missense	probably benign	0.00
R6525:Parp14	UTSW	16	35860441	missense	probably benign	0.05
R6683:Parp14	UTSW	16	35834677	missense	probably damaging	1.00
R7525:Parp14	UTSW	16	35857491	missense	probably benign	0.00
R8011:Parp14	UTSW	16	35856634	missense	probably benign	0.00
R8192:Parp14	UTSW	16	35871214	missense	probably benign	0.01
R8367:Parp14	UTSW	16	35857754	missense	probably benign	0.36
R8526:Parp14	UTSW	16	35840937	missense	possibly damaging	0.87
R8751:Parp14	UTSW	16	35856811	missense	probably benign	0.32
R8962:Parp14	UTSW	16	35856817	missense	probably damaging	1.00
R9231:Parp14	UTSW	16	35841213	missense	probably damaging	0.98
R9363:Parp14	UTSW	16	35858216	missense	possibly damaging	0.90
R9366:Parp14	UTSW	16	35839260	critical splice donor site	probably null
R9379:Parp14	UTSW	16	35860483	missense	probably benign	0.08
R9562:Parp14	UTSW	16	35857405	missense	probably benign	0.16
R9565:Parp14	UTSW	16	35857405	missense	probably benign	0.16
R9696:Parp14	UTSW	16	35840881	missense	possibly damaging	0.67
R9696:Parp14	UTSW	16	35840882	missense	probably damaging	0.96
X0026:Parp14	UTSW	16	35857157	nonsense	probably null
X0060:Parp14	UTSW	16	35834707	missense	probably damaging	0.99
Z1088:Parp14	UTSW	16	35841586	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35845338	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35871203	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CACATACCTGGAAAACTGTGTGC -3'
(R):5'- AGGAAATGCTCAACAGGACC -3'

Sequencing Primer
(F):5'- CCAAAACCAGGGTGTTCTTTTTG -3'
(R):5'- CAGGACCCAAACGTAGTAGC -3'

Posted On

2017-06-26