Mutagenetix > Incidental Mutation

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

CoaSt6, collaborator of Stat6, 1600029O10Rik

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35653244-35691914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35677575 bp (GRCm39)

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]

AlphaFold

Q2EMV9

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: 71,922,272 (GRCm39)	P146T	probably damaging	Het
Arnt2	T	A	7: 83,924,559 (GRCm39)	T423S	probably damaging	Het
Bend5	A	G	4: 111,305,787 (GRCm39)	N277S	probably null	Het
Cd22	G	T	7: 30,566,471 (GRCm39)	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,679 (GRCm39)	R115C	probably damaging	Het
Cep85	T	C	4: 133,858,741 (GRCm39)	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,230,003 (GRCm39)	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,020,742 (GRCm39)	V371A	probably benign	Het
Csmd1	T	A	8: 17,077,355 (GRCm39)		probably null	Het
Cyp1a1	T	A	9: 57,609,352 (GRCm39)		probably null	Het
Dennd1c	C	T	17: 57,381,492 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 50,026,990 (GRCm39)	V2033I	probably benign	Het
Dtna	A	G	18: 23,702,622 (GRCm39)	H51R	probably damaging	Het
Dysf	G	A	6: 84,184,227 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,731,720 (GRCm39)	V945E	probably benign	Het
Gpbar1	C	G	1: 74,318,053 (GRCm39)	L99V	probably damaging	Het
Hdac9	A	T	12: 34,479,516 (GRCm39)	D212E	probably damaging	Het
Itga1	A	T	13: 115,133,565 (GRCm39)	D448E	probably benign	Het
Itga2b	T	A	11: 102,358,692 (GRCm39)	N75I	probably benign	Het
Klra7	T	C	6: 130,205,549 (GRCm39)	E117G	probably benign	Het
Kmt2b	G	A	7: 30,273,490 (GRCm39)	R2349C	probably benign	Het
Masp1	T	C	16: 23,310,805 (GRCm39)	N209S	probably benign	Het
Mybpc2	C	T	7: 44,161,924 (GRCm39)		probably null	Het
Myh15	C	G	16: 48,986,201 (GRCm39)	S1557*	probably null	Het
Myo3a	A	C	2: 22,467,783 (GRCm39)	T346P	probably benign	Het
Nim1k	A	G	13: 120,175,751 (GRCm39)	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,802,077 (GRCm39)	R507*	probably null	Het
Or13n4	T	A	7: 106,423,205 (GRCm39)	H176L	probably damaging	Het
Or5e1	C	T	7: 108,354,819 (GRCm39)	T252M	probably damaging	Het
Pcnx2	C	T	8: 126,614,816 (GRCm39)	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,437,291 (GRCm39)	H3522L	probably damaging	Het
Pram1	C	T	17: 33,860,258 (GRCm39)	A275V	probably benign	Het
Pramel18	T	A	4: 101,767,257 (GRCm39)	W169R	probably damaging	Het
Prkag1	A	T	15: 98,713,827 (GRCm39)	M1K	probably null	Het
Prss52	T	C	14: 64,351,042 (GRCm39)	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,431,125 (GRCm39)	V284D	probably damaging	Het
Reln	T	C	5: 22,253,003 (GRCm39)	D648G	probably benign	Het
Rnf112	A	G	11: 61,343,105 (GRCm39)	L190P	probably damaging	Het
Scn5a	G	T	9: 119,314,678 (GRCm39)	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,342,151 (GRCm39)	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,663,798 (GRCm39)	H274R	probably benign	Het
Slc5a6	T	G	5: 31,196,679 (GRCm39)	E391D	possibly damaging	Het
Speer2	T	C	16: 69,655,730 (GRCm39)	Q32R	possibly damaging	Het
Tars1	A	G	15: 11,389,794 (GRCm39)	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,267 (GRCm39)	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,066,301 (GRCm39)	Y222C	probably benign	Het
Trim40	T	C	17: 37,199,875 (GRCm39)	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,313,226 (GRCm39)	I150V	probably benign	Het
Ube2u	T	C	4: 100,389,365 (GRCm39)	V109A	probably benign	Het
Usp54	A	T	14: 20,611,908 (GRCm39)	D969E	probably benign	Het
Vil1	G	T	1: 74,464,838 (GRCm39)	R495L	probably benign	Het
Wfs1	T	A	5: 37,124,564 (GRCm39)	K700*	probably null	Het
Zcchc8	A	G	5: 123,845,466 (GRCm39)	L298P	probably damaging	Het
Zfp946	A	T	17: 22,673,697 (GRCm39)	Q150H	possibly damaging	Het

Other mutations in Parp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Parp14	APN	16	35,661,445 (GRCm39)	missense	probably benign	0.00
IGL00497:Parp14	APN	16	35,655,206 (GRCm39)	missense	probably damaging	1.00
IGL00754:Parp14	APN	16	35,659,741 (GRCm39)	missense	probably benign	0.15
IGL00960:Parp14	APN	16	35,661,589 (GRCm39)	missense	probably benign	0.20
IGL01321:Parp14	APN	16	35,676,929 (GRCm39)	missense	probably benign
IGL01397:Parp14	APN	16	35,679,098 (GRCm39)	missense	probably benign	0.19
IGL01591:Parp14	APN	16	35,678,877 (GRCm39)	missense	possibly damaging	0.71
IGL01728:Parp14	APN	16	35,677,805 (GRCm39)	missense	probably damaging	1.00
IGL01734:Parp14	APN	16	35,678,970 (GRCm39)	missense	probably benign	0.00
IGL02156:Parp14	APN	16	35,678,967 (GRCm39)	missense	probably benign	0.13
IGL02951:Parp14	APN	16	35,678,903 (GRCm39)	missense	probably benign	0.06
IGL03067:Parp14	APN	16	35,676,878 (GRCm39)	missense	probably benign	0.10
IGL03135:Parp14	APN	16	35,678,381 (GRCm39)	missense	probably damaging	1.00
IGL03141:Parp14	APN	16	35,659,663 (GRCm39)	missense	probably benign	0.00
IGL03146:Parp14	APN	16	35,678,823 (GRCm39)	nonsense	probably null
IGL03333:Parp14	APN	16	35,661,800 (GRCm39)	missense	probably benign	0.08
IGL03391:Parp14	APN	16	35,678,640 (GRCm39)	missense	probably benign
thurston	UTSW	16	35,664,785 (GRCm39)	splice site	probably benign
PIT4585001:Parp14	UTSW	16	35,678,975 (GRCm39)	missense	probably benign	0.03
R0306:Parp14	UTSW	16	35,676,944 (GRCm39)	missense	probably benign
R0506:Parp14	UTSW	16	35,661,779 (GRCm39)	missense	possibly damaging	0.70
R0586:Parp14	UTSW	16	35,661,382 (GRCm39)	missense	probably benign	0.00
R0606:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R0612:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R0699:Parp14	UTSW	16	35,680,955 (GRCm39)	missense	probably damaging	1.00
R0786:Parp14	UTSW	16	35,661,172 (GRCm39)	missense	possibly damaging	0.86
R0883:Parp14	UTSW	16	35,678,888 (GRCm39)	missense	probably benign	0.03
R0900:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1087:Parp14	UTSW	16	35,678,658 (GRCm39)	missense	probably damaging	1.00
R1104:Parp14	UTSW	16	35,664,785 (GRCm39)	splice site	probably benign
R1120:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1134:Parp14	UTSW	16	35,655,272 (GRCm39)	missense	probably damaging	1.00
R1153:Parp14	UTSW	16	35,678,041 (GRCm39)	missense	possibly damaging	0.49
R1159:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1160:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1237:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1238:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1239:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1423:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1511:Parp14	UTSW	16	35,677,594 (GRCm39)	missense	probably benign	0.00
R1518:Parp14	UTSW	16	35,677,008 (GRCm39)	missense	possibly damaging	0.79
R1619:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1707:Parp14	UTSW	16	35,678,219 (GRCm39)	missense	probably damaging	1.00
R1792:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1831:Parp14	UTSW	16	35,678,958 (GRCm39)	missense	possibly damaging	0.77
R1840:Parp14	UTSW	16	35,683,819 (GRCm39)	missense	probably damaging	1.00
R1889:Parp14	UTSW	16	35,677,130 (GRCm39)	missense	probably benign	0.09
R1902:Parp14	UTSW	16	35,673,888 (GRCm39)	critical splice donor site	probably null
R1943:Parp14	UTSW	16	35,656,499 (GRCm39)	missense	probably damaging	1.00
R1954:Parp14	UTSW	16	35,678,671 (GRCm39)	missense	probably benign	0.08
R2115:Parp14	UTSW	16	35,678,904 (GRCm39)	missense	probably benign	0.16
R2519:Parp14	UTSW	16	35,678,573 (GRCm39)	missense	possibly damaging	0.95
R3851:Parp14	UTSW	16	35,674,118 (GRCm39)	missense	possibly damaging	0.92
R4052:Parp14	UTSW	16	35,678,771 (GRCm39)	missense	probably benign	0.05
R4671:Parp14	UTSW	16	35,678,691 (GRCm39)	missense	probably benign	0.00
R4867:Parp14	UTSW	16	35,677,697 (GRCm39)	missense	probably benign	0.01
R4941:Parp14	UTSW	16	35,666,403 (GRCm39)	missense	probably benign
R4992:Parp14	UTSW	16	35,661,512 (GRCm39)	missense	probably benign	0.05
R5055:Parp14	UTSW	16	35,664,733 (GRCm39)	missense	probably benign	0.00
R5073:Parp14	UTSW	16	35,655,077 (GRCm39)	missense	probably damaging	0.99
R5170:Parp14	UTSW	16	35,677,649 (GRCm39)	missense	probably benign	0.21
R5422:Parp14	UTSW	16	35,686,545 (GRCm39)	missense	probably benign	0.01
R5543:Parp14	UTSW	16	35,655,137 (GRCm39)	missense	probably benign	0.00
R5549:Parp14	UTSW	16	35,661,505 (GRCm39)	missense	probably benign	0.00
R5553:Parp14	UTSW	16	35,677,306 (GRCm39)	missense	probably benign	0.01
R5691:Parp14	UTSW	16	35,683,909 (GRCm39)	missense	probably benign	0.12
R5774:Parp14	UTSW	16	35,678,780 (GRCm39)	missense	probably damaging	1.00
R5855:Parp14	UTSW	16	35,661,297 (GRCm39)	nonsense	probably null
R5942:Parp14	UTSW	16	35,659,737 (GRCm39)	missense	probably damaging	0.98
R5990:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R5991:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6018:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6022:Parp14	UTSW	16	35,661,827 (GRCm39)	missense	probably benign	0.14
R6075:Parp14	UTSW	16	35,677,389 (GRCm39)	missense	probably damaging	0.99
R6395:Parp14	UTSW	16	35,676,918 (GRCm39)	missense	probably benign	0.00
R6525:Parp14	UTSW	16	35,680,811 (GRCm39)	missense	probably benign	0.05
R6683:Parp14	UTSW	16	35,655,047 (GRCm39)	missense	probably damaging	1.00
R7525:Parp14	UTSW	16	35,677,861 (GRCm39)	missense	probably benign	0.00
R8011:Parp14	UTSW	16	35,677,004 (GRCm39)	missense	probably benign	0.00
R8192:Parp14	UTSW	16	35,691,584 (GRCm39)	missense	probably benign	0.01
R8367:Parp14	UTSW	16	35,678,124 (GRCm39)	missense	probably benign	0.36
R8526:Parp14	UTSW	16	35,661,307 (GRCm39)	missense	possibly damaging	0.87
R8751:Parp14	UTSW	16	35,677,181 (GRCm39)	missense	probably benign	0.32
R8962:Parp14	UTSW	16	35,677,187 (GRCm39)	missense	probably damaging	1.00
R9231:Parp14	UTSW	16	35,661,583 (GRCm39)	missense	probably damaging	0.98
R9363:Parp14	UTSW	16	35,678,586 (GRCm39)	missense	possibly damaging	0.90
R9366:Parp14	UTSW	16	35,659,630 (GRCm39)	critical splice donor site	probably null
R9379:Parp14	UTSW	16	35,680,853 (GRCm39)	missense	probably benign	0.08
R9562:Parp14	UTSW	16	35,677,775 (GRCm39)	missense	probably benign	0.16
R9565:Parp14	UTSW	16	35,677,775 (GRCm39)	missense	probably benign	0.16
R9696:Parp14	UTSW	16	35,661,252 (GRCm39)	missense	probably damaging	0.96
R9696:Parp14	UTSW	16	35,661,251 (GRCm39)	missense	possibly damaging	0.67
X0026:Parp14	UTSW	16	35,677,527 (GRCm39)	nonsense	probably null
X0060:Parp14	UTSW	16	35,655,077 (GRCm39)	missense	probably damaging	0.99
Z1088:Parp14	UTSW	16	35,661,956 (GRCm39)	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35,665,708 (GRCm39)	missense	probably damaging	1.00
Z1177:Parp14	UTSW	16	35,691,573 (GRCm39)	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