Mutagenetix > Incidental Mutation

Incidental Mutation 'R6022:Parp14'

479012

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

043256-MU

Accession Numbers

Essential gene?

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

Stock #

R6022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35653244-35691914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35661827 bp (GRCm39)

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: 97.7%
20x: 92.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,240,759 (GRCm39)	F874C	probably damaging	Het
Adam9	T	C	8: 25,493,321 (GRCm39)	T96A	possibly damaging	Het
Arhgef26	C	T	3: 62,336,360 (GRCm39)	T633M	probably damaging	Het
Atxn2l	A	G	7: 126,095,607 (GRCm39)		probably null	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Caskin1	T	A	17: 24,715,709 (GRCm39)	F158I	probably benign	Het
Ces1g	T	A	8: 94,055,085 (GRCm39)	N204I	probably damaging	Het
Chd1	A	G	17: 17,598,035 (GRCm39)	I41V	probably benign	Het
Crybg2	A	T	4: 133,801,584 (GRCm39)	K915*	probably null	Het
Dock4	T	C	12: 40,798,109 (GRCm39)	V911A	probably benign	Het
Dok5	A	G	2: 170,721,142 (GRCm39)	Y302C	probably damaging	Het
Dpysl4	A	T	7: 138,666,000 (GRCm39)		probably benign	Het
Dsc3	A	C	18: 20,099,395 (GRCm39)	V707G	probably damaging	Het
Endog	A	G	2: 30,062,921 (GRCm39)	Y187C	possibly damaging	Het
Fcrl5	A	G	3: 87,363,070 (GRCm39)	T526A	probably benign	Het
Gcat	T	C	15: 78,926,478 (GRCm39)	V116A	probably damaging	Het
Herc1	A	G	9: 66,390,967 (GRCm39)	D3975G	probably damaging	Het
Jmy	G	T	13: 93,590,086 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,282,989 (GRCm39)	I1273V	probably benign	Het
Lrriq1	G	T	10: 103,051,395 (GRCm39)	N452K	possibly damaging	Het
Lrrn3	T	C	12: 41,503,429 (GRCm39)	E296G	probably damaging	Het
Marco	G	A	1: 120,416,294 (GRCm39)	L208F	probably benign	Het
Mme	T	A	3: 63,272,218 (GRCm39)	W606R	probably damaging	Het
Phc3	A	G	3: 30,984,174 (GRCm39)	S647P	probably damaging	Het
Prx	A	G	7: 27,216,998 (GRCm39)	K500E	probably damaging	Het
Ptpn22	T	A	3: 103,793,421 (GRCm39)	V524E	probably benign	Het
Ptprj	A	T	2: 90,301,667 (GRCm39)	I155K	probably benign	Het
Rad51ap2	A	G	12: 11,508,523 (GRCm39)	E815G	probably damaging	Het
Rnf150	T	C	8: 83,769,358 (GRCm39)	V381A	probably benign	Het
Rnf213	A	G	11: 119,376,836 (GRCm39)	K5103R	probably benign	Het
Speer4a2	T	G	5: 26,289,677 (GRCm39)	E250A	probably benign	Het
Tecpr1	A	T	5: 144,136,009 (GRCm39)	W961R	possibly damaging	Het
Tnn	A	T	1: 159,937,928 (GRCm39)	D932E	probably benign	Het
Tram2	G	A	1: 21,149,361 (GRCm39)		probably benign	Het
Trbv26	T	A	6: 41,204,509 (GRCm39)		probably benign	Het
Trmt11	A	G	10: 30,463,497 (GRCm39)	I206T	possibly damaging	Het
Ttk	T	C	9: 83,721,375 (GRCm39)	Y87H	probably damaging	Het
Uri1	A	T	7: 37,660,902 (GRCm39)		probably benign	Het
Vmn1r173	A	G	7: 23,402,260 (GRCm39)	D165G	probably benign	Het
Xpc	A	G	6: 91,476,618 (GRCm39)	S494P	probably damaging	Het
Zfp438	T	A	18: 5,213,419 (GRCm39)	N513I	probably 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
R2216:Parp14	UTSW	16	35,677,575 (GRCm39)	missense	probably benign	0.00
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
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'- ACATACCTGGAAAACTGTGTGC -3'
(R):5'- AGGAAATGCTCAACAGGACC -3'

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

Posted On

2017-06-26