Mutagenetix > Incidental Mutations

Incidental Mutation 'R2216:Parp14'

241181

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

040218-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35832874-35871544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35857205 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 798 (I798V)

Ref Sequence

ENSEMBL: ENSMUSP00000037657 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042665
AA Change: I798V

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

SMART Domains

Protein: ENSMUSP00000037657
Gene: ENSMUSG00000034422
AA Change: I798V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142946

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly 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
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
R5990:Parp14	UTSW	16	35841457	missense	probably benign	0.14
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
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'- GATAACAGCATTGCCGGGTAG -3'
(R):5'- ACTGACAAAGCTGGCGTCAG -3'

Sequencing Primer
(F):5'- ATTGCCGGGTAGGACCAC -3'
(R):5'- GCGTCAGGCACTTCTTCAAAG -3'

Posted On

2014-10-15