Mutagenetix > Incidental Mutations

Incidental Mutation 'R7525:Parp14'

582945

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35832874-35871544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35857491 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 702 (H702Q)

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: H702Q

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

SMART Domains

Protein: ENSMUSP00000037657
Gene: ENSMUSG00000034422
AA Change: H702Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,183,355	T998A	probably damaging	Het
AI314180	A	G	4: 58,847,038	I508T	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Akt3	T	A	1: 177,020,107	K465*	probably null	Het
Ankar	T	C	1: 72,688,641	D371G	probably benign	Het
Ankib1	T	G	5: 3,755,734	N178H	possibly damaging	Het
Arhgap10	A	G	8: 77,420,070		probably null	Het
Arhgef4	A	G	1: 34,809,704	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,461,684		probably benign	Het
Camk4	T	C	18: 33,185,032	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,454,092	V139E	possibly damaging	Het
Dhrs13	C	A	11: 78,032,434	N21K	unknown	Het
Dopey1	C	T	9: 86,506,290	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160	Q13*	probably null	Het
Eif2ak1	T	C	5: 143,886,898	S388P	probably damaging	Het
Emilin2	T	C	17: 71,274,979	S251G	probably benign	Het
Eml4	T	A	17: 83,445,950	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,590,080	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,597,672	N264I	probably benign	Het
Gm13124	A	G	4: 144,565,010	F42S	probably damaging	Het
Gzme	A	C	14: 56,119,333	D57E	probably benign	Het
H2-D1	A	G	17: 35,265,933	T257A	probably damaging	Het
Hectd4	C	A	5: 121,343,665	D3092E	possibly damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Hspbp1	A	G	7: 4,663,436	L315P	probably damaging	Het
Insr	A	T	8: 3,192,642	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,639,465	I582N	probably damaging	Het
Lrit2	A	G	14: 37,072,493	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,657,416	N4251K		Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Mgam	T	G	6: 40,766,020	N1791K	probably benign	Het
Mroh7	A	T	4: 106,709,702	I450N	probably benign	Het
Mylk	G	A	16: 34,988,987	M1771I	probably benign	Het
Olfr1335	A	T	4: 118,809,494	F123L	probably damaging	Het
Olfr26	A	T	9: 38,855,238	M59L	possibly damaging	Het
Olfr612	A	T	7: 103,539,131	C34*	probably null	Het
Olfr972	T	A	9: 39,874,139	L288*	probably null	Het
Pcdhga1	T	C	18: 37,662,228	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,642,590	T373A	probably damaging	Het
Pdzph1	A	G	17: 58,967,341	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,530,922	N322I	probably benign	Het
Pikfyve	C	T	1: 65,244,426	R741*	probably null	Het
Pip4k2c	A	G	10: 127,208,904	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,166,619	F271L	probably damaging	Het
Prkdc	A	T	16: 15,672,327	Y565F	probably damaging	Het
Prom2	T	C	2: 127,532,781	R612G	probably benign	Het
Psap	T	C	10: 60,299,474	V303A	probably benign	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,613,530	K446N	probably benign	Het
Slc39a12	T	A	2: 14,494,461	M661K	probably benign	Het
Slc6a16	T	C	7: 45,259,113	L39P	probably benign	Het
Syne1	T	G	10: 5,185,559		probably null	Het
Taar8c	T	C	10: 24,101,866	N16S	probably benign	Het
Tmem98	A	G	11: 80,817,518	T105A	probably damaging	Het
Tmub1	T	A	5: 24,446,013	Y216F	probably damaging	Het
Trim16	T	G	11: 62,820,754	C84G	probably damaging	Het
Ttn	T	A	2: 76,731,229	K28978*	probably null	Het
Usp38	A	G	8: 81,014,246	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,926,982	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,961,302	W61R	probably benign	Het
Whamm	G	T	7: 81,593,850	G607C	probably damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp398	A	G	6: 47,865,818	D268G	probably benign	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
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
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
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'- GAACTGACGACCAATCTCCG -3'
(R):5'- ATGAATTGACTTCAGAAACCCCG -3'

Sequencing Primer
(F):5'- GAACTGACGACCAATCTCCGTTTTG -3'
(R):5'- CCGGCAAAGGTCATTGTTAC -3'

Posted On

2019-10-17