Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Parp14'

527595

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

044802-MU

Accession Numbers

Essential gene?

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

Stock #

R6683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35653244-35691914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35655047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1808 (Y1808C)

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 damaging
Transcript: ENSMUST00000042665
AA Change: Y1808C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037657
Gene: ENSMUSG00000034422
AA Change: Y1808C

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: ENSMUST00000231601

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,321,604 (GRCm39)	E169G	possibly damaging	Het
Acat2	G	A	17: 13,162,814 (GRCm39)	R377C	probably benign	Het
Adgrg6	A	G	10: 14,331,911 (GRCm39)	V398A	probably damaging	Het
BC025920	A	G	10: 81,445,135 (GRCm39)	H86R	probably damaging	Het
BC028528	T	C	3: 95,795,539 (GRCm39)	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,145,112 (GRCm39)	T347S	probably benign	Het
Dhcr7	T	C	7: 143,397,048 (GRCm39)	V180A	probably damaging	Het
Fam187a	T	C	11: 102,777,015 (GRCm39)	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,550,101 (GRCm39)	R78W	possibly damaging	Het
Krt8	T	C	15: 101,906,439 (GRCm39)	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Ly6d	A	T	15: 74,634,299 (GRCm39)	V97D	probably benign	Het
Map3k13	T	C	16: 21,711,062 (GRCm39)	I115T	probably benign	Het
Muc2	G	A	7: 141,305,214 (GRCm39)	V173I	probably benign	Het
Nck2	T	C	1: 43,608,338 (GRCm39)	S327P	probably benign	Het
Ncoa7	T	C	10: 30,647,717 (GRCm39)	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,347,009 (GRCm39)	T83I	probably benign	Het
Nploc4	A	G	11: 120,274,156 (GRCm39)	S546P	probably damaging	Het
Or1e1d-ps1	A	G	11: 73,818,939 (GRCm39)	Y36C	probably damaging	Het
Or51g2	C	T	7: 102,622,920 (GRCm39)	R93Q	probably benign	Het
Or52e8	C	T	7: 104,625,175 (GRCm39)	V10I	probably benign	Het
Or5b21	A	G	19: 12,840,014 (GRCm39)	S292G	probably damaging	Het
Panx1	T	C	9: 14,919,307 (GRCm39)	E184G	probably benign	Het
Plcb1	A	T	2: 134,628,513 (GRCm39)	S21C	probably benign	Het
Ppil6	A	G	10: 41,374,427 (GRCm39)	N103D	probably benign	Het
Pth1r	C	T	9: 110,556,319 (GRCm39)		probably null	Het
Rapgef4	A	T	2: 71,885,123 (GRCm39)		probably benign	Het
Rlf	A	G	4: 121,005,123 (GRCm39)	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,410,822 (GRCm39)	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,085,896 (GRCm39)	M117T	probably benign	Het
St8sia4	T	C	1: 95,581,424 (GRCm39)	D106G	probably damaging	Het
Tjp2	A	G	19: 24,098,207 (GRCm39)	I485T	probably damaging	Het
Trdc	T	C	14: 54,381,692 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,541,004 (GRCm39)	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,187,224 (GRCm39)	K799N	probably damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	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
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
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'- GCGATTGGCTCTCAAGTAGATTC -3'
(R):5'- AAAGCTTCCTATTCTGCCTGTG -3'

Sequencing Primer
(F):5'- CATTTTCACTGTGGAGGAAACACAC -3'
(R):5'- TGCCTGTGACACATATTCCAGAC -3'

Posted On

2018-07-23