Mutagenetix > Incidental Mutation

Incidental Mutation 'R1110:Parp6'

96636

Institutional Source

Beutler Lab

Gene Symbol

Parp6

Ensembl Gene

ENSMUSG00000025237

Gene Name

poly (ADP-ribose) polymerase family, member 6

Synonyms

MMRRC Submission

039183-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.542) question?

Stock #

R1110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59617284-59650285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59649564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 584 (C584F)

Ref Sequence

ENSEMBL: ENSMUSP00000026267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026267] [ENSMUST00000050483] [ENSMUST00000167091] [ENSMUST00000216351]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026267
AA Change: C584F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: C584F

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
Pfam:PARP	450	580	5.6e-15	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000050483
AA Change: C564F

SMART Domains

Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: C564F

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	303	315	N/A	INTRINSIC
SCOP:d1a26_2	409	475	4e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167091

SMART Domains

Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
SCOP:d1a26_2	429	473	4e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000214956
AA Change: C87F

Predicted Effect

probably benign
Transcript: ENSMUST00000216351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217284

Meta Mutation Damage Score

0.6707

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,905,399		probably null	Het
Acp2	A	G	2: 91,208,422		probably null	Het
Akap13	T	G	7: 75,611,377	S447A	possibly damaging	Het
Alk	G	A	17: 71,984,745		probably benign	Het
Arhgef39	T	C	4: 43,496,834	T327A	probably benign	Het
Cdan1	G	A	2: 120,720,602	A1103V	probably damaging	Het
Cdh18	A	G	15: 23,474,317	T758A	probably benign	Het
Cdk17	T	A	10: 93,239,033	Y3*	probably null	Het
Cdon	T	C	9: 35,456,437		probably benign	Het
Cntn3	T	A	6: 102,245,158	N460I	probably benign	Het
Cntrl	T	A	2: 35,160,627	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,607,740	E497G	probably benign	Het
Crybg1	A	G	10: 43,999,093	M673T	possibly damaging	Het
Cyp2u1	A	G	3: 131,293,609	I441T	possibly damaging	Het
Disp2	T	C	2: 118,790,439	S551P	probably damaging	Het
Dock2	A	T	11: 34,256,535	F1354I	possibly damaging	Het
Dstyk	A	G	1: 132,453,325		probably benign	Het
Dzip1	T	C	14: 118,889,305	N527S	probably benign	Het
Eomes	A	G	9: 118,484,599	I571V	probably benign	Het
Fam26e	T	G	10: 34,096,017	I141L	probably benign	Het
Fbxl13	T	C	5: 21,484,036	D758G	probably benign	Het
Frem1	T	C	4: 82,950,320	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838	C613Y	probably damaging	Het
Gm906	A	T	13: 50,248,260	D83E	possibly damaging	Het
Gm9755	A	T	8: 67,515,058		noncoding transcript	Het
Hnrnpul2	A	G	19: 8,826,746	R570G	probably damaging	Het
Igdcc4	A	G	9: 65,126,926	H674R	possibly damaging	Het
Kdm5d	T	A	Y: 910,539	L250H	probably damaging	Het
Kif1a	T	C	1: 93,023,453		probably benign	Het
Kmt2c	T	C	5: 25,314,362	N2250S	probably benign	Het
Kmt2e	C	T	5: 23,502,655	H1739Y	probably damaging	Het
Lmtk3	T	A	7: 45,795,003		probably benign	Het
Lpin3	A	G	2: 160,894,079	D93G	probably benign	Het
Myh10	T	C	11: 68,791,850		probably benign	Het
Myom2	G	A	8: 15,122,413	E1171K	probably benign	Het
Ncoa6	A	T	2: 155,411,520		probably benign	Het
Nup160	A	G	2: 90,733,219		probably benign	Het
Oit3	G	A	10: 59,428,194	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,959,753	I494L	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Olfr824	A	G	10: 130,126,653	Y135H	probably damaging	Het
Pcgf2	A	G	11: 97,691,850		probably benign	Het
Pde3a	T	C	6: 141,459,316		probably benign	Het
Pibf1	C	T	14: 99,112,973	R186C	probably damaging	Het
Pitrm1	A	G	13: 6,558,244	D335G	probably benign	Het
Pkp4	T	C	2: 59,338,765	L752P	probably damaging	Het
Plcb3	C	A	19: 6,961,913	E566*	probably null	Het
Prune2	T	C	19: 17,125,222	S2582P	probably benign	Het
Reln	A	T	5: 22,034,775	D831E	probably benign	Het
Samd9l	T	A	6: 3,374,267	D998V	probably benign	Het
Sardh	G	A	2: 27,191,919	T865I	possibly damaging	Het
Setbp1	G	A	18: 78,857,860	T864I	probably damaging	Het
Slc9a1	T	A	4: 133,370,548	M2K	probably benign	Het
Sorbs2	A	G	8: 45,795,730	T593A	probably benign	Het
Svs5	A	T	2: 164,333,587	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,159,815	V19F	probably damaging	Het
Ttc30a1	A	T	2: 75,979,976	C588S	probably damaging	Het
Urgcp	T	C	11: 5,716,004	N778S	probably benign	Het
Vnn1	A	T	10: 23,899,601	I250F	possibly damaging	Het
Xntrpc	A	G	7: 102,082,974	R365G	possibly damaging	Het
Zfp84	T	A	7: 29,771,372	M1K	probably null	Het
Zfyve26	G	A	12: 79,280,067	R761C	probably damaging	Het
Zp3r	A	G	1: 130,577,884		probably null	Het

Other mutations in Parp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Parp6	APN	9	59632959	missense	probably damaging	1.00
IGL01366:Parp6	APN	9	59636713	missense	possibly damaging	0.75
IGL01385:Parp6	APN	9	59630612	splice site	probably benign
IGL02000:Parp6	APN	9	59648892	missense	probably benign	0.00
IGL02001:Parp6	APN	9	59649961	missense	possibly damaging	0.90
IGL02315:Parp6	APN	9	59641738	intron	probably benign
IGL02719:Parp6	APN	9	59630738	missense	probably benign	0.26
IGL02928:Parp6	APN	9	59641063	missense	possibly damaging	0.70
IGL03169:Parp6	APN	9	59650017	nonsense	probably null
IGL03398:Parp6	APN	9	59641053	missense	probably damaging	0.97
R0165:Parp6	UTSW	9	59632925	missense	probably damaging	1.00
R0602:Parp6	UTSW	9	59649365	splice site	probably benign
R0781:Parp6	UTSW	9	59649564	missense	probably damaging	0.99
R1730:Parp6	UTSW	9	59633538	nonsense	probably null
R1783:Parp6	UTSW	9	59633538	nonsense	probably null
R2264:Parp6	UTSW	9	59624005	missense	probably damaging	1.00
R4323:Parp6	UTSW	9	59630686	missense	possibly damaging	0.84
R4654:Parp6	UTSW	9	59641100	splice site	probably null
R4672:Parp6	UTSW	9	59640110	missense	probably damaging	1.00
R4673:Parp6	UTSW	9	59640110	missense	probably damaging	1.00
R4708:Parp6	UTSW	9	59641769	missense	probably damaging	0.98
R4709:Parp6	UTSW	9	59641769	missense	probably damaging	0.98
R4763:Parp6	UTSW	9	59631365	missense	probably damaging	1.00
R4782:Parp6	UTSW	9	59634984	splice site	probably null
R4825:Parp6	UTSW	9	59624362	splice site	probably null
R5563:Parp6	UTSW	9	59628673	splice site	probably null
R5700:Parp6	UTSW	9	59624727	missense	probably damaging	1.00
R6235:Parp6	UTSW	9	59630815	missense	probably benign	0.34
R6269:Parp6	UTSW	9	59650012	missense	probably benign
R6383:Parp6	UTSW	9	59623939	missense	probably damaging	0.99
R9170:Parp6	UTSW	9	59623930	missense
X0061:Parp6	UTSW	9	59630765	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TTGTGAAGGTATGCAACTCACCCAG -3'
(R):5'- GCCCCAAATAAGCTATCCTTGTCCC -3'

Sequencing Primer
(F):5'- GCAACTCACCCAGTTCATGTC -3'
(R):5'- CTTGTCCCCAAGGAGAAGTC -3'

Posted On

2014-01-05