Mutagenetix > Incidental Mutation

Incidental Mutation 'R0602:Parp6'

55493

Institutional Source

Beutler Lab

Gene Symbol

Parp6

Ensembl Gene

ENSMUSG00000025237

Gene Name

poly (ADP-ribose) polymerase family, member 6

Synonyms

2310028P13Rik, 3110038K10Rik, C030013N01Rik, 1700119G14Rik

MMRRC Submission

038791-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R0602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59524567-59557568 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 59556648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148866 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026267

SMART Domains

Protein: ENSMUSP00000026267
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
Pfam:PARP	450	580	5.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050483

SMART Domains

Protein: ENSMUSP00000063065
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	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

probably benign
Transcript: ENSMUST00000214956

Predicted Effect

probably benign
Transcript: ENSMUST00000216351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217284

Coding Region Coverage

1x: 99.6%
3x: 99.1%
10x: 97.5%
20x: 94.7%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,978,090 (GRCm39)		probably benign	Het
Arih1	A	G	9: 59,302,154 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,113,102 (GRCm39)	I1118V	probably benign	Het
Cap1	T	C	4: 122,766,202 (GRCm39)	E12G	probably damaging	Het
Ccdc168	T	A	1: 44,099,127 (GRCm39)	K657I	possibly damaging	Het
Ccr2	A	G	9: 123,906,658 (GRCm39)	I313V	probably benign	Het
Cd1d2	T	C	3: 86,895,110 (GRCm39)	S161P	probably benign	Het
Cd226	C	T	18: 89,287,135 (GRCm39)	T311I	probably benign	Het
Col25a1	A	G	3: 130,369,063 (GRCm39)		probably null	Het
Cspg4	T	C	9: 56,795,301 (GRCm39)	F1012S	probably damaging	Het
Dnah7b	A	G	1: 46,364,002 (GRCm39)	M3541V	probably damaging	Het
Erbb2	G	A	11: 98,325,097 (GRCm39)	V852M	probably damaging	Het
Fer1l6	A	C	15: 58,449,794 (GRCm39)	T667P	probably damaging	Het
Gal3st2c	A	G	1: 93,936,901 (GRCm39)	Y282C	probably damaging	Het
Glp1r	T	C	17: 31,128,201 (GRCm39)	L60P	probably benign	Het
Gtf2h2	A	G	13: 100,605,533 (GRCm39)	V358A	probably benign	Het
H2ac18	T	C	3: 96,152,866 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 15,000,347 (GRCm39)	I302F	probably damaging	Het
Lgi2	T	C	5: 52,711,765 (GRCm39)	D185G	probably damaging	Het
Lrtm1	T	C	14: 28,744,179 (GRCm39)		probably benign	Het
Megf10	T	G	18: 57,395,172 (GRCm39)	D511E	probably damaging	Het
Myo5c	A	G	9: 75,173,478 (GRCm39)		probably null	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Ola1	A	G	2: 72,924,056 (GRCm39)	Y368H	probably damaging	Het
Or52s1	A	C	7: 102,861,787 (GRCm39)	H229P	possibly damaging	Het
Or9i1b	A	G	19: 13,897,145 (GRCm39)	T254A	probably benign	Het
Or9q2	T	C	19: 13,772,026 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,500 (GRCm39)	L125P	probably damaging	Het
Pappa2	A	G	1: 158,590,625 (GRCm39)		probably benign	Het
Pomgnt2	A	G	9: 121,811,339 (GRCm39)	Y481H	probably benign	Het
Ppp4c	A	G	7: 126,388,254 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,533 (GRCm39)		probably benign	Het
Prpf40b	C	A	15: 99,202,352 (GRCm39)	A70E	unknown	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Ptprc	C	T	1: 138,017,223 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,140,018 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,371,313 (GRCm39)	E344G	possibly damaging	Het
Sgca	A	T	11: 94,854,061 (GRCm39)	I383N	possibly damaging	Het
Sgms2	T	A	3: 131,118,756 (GRCm39)		probably null	Het
Slc9b1	C	A	3: 135,103,516 (GRCm39)	Q549K	probably benign	Het
Smc4	G	C	3: 68,916,871 (GRCm39)	A187P	probably damaging	Het
Smco1	A	G	16: 32,092,062 (GRCm39)	S47G	probably damaging	Het
Sobp	T	A	10: 42,898,385 (GRCm39)	E400V	probably damaging	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Stil	T	A	4: 114,881,620 (GRCm39)		probably benign	Het
Sult3a2	A	T	10: 33,658,044 (GRCm39)	M23K	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcof1	C	A	18: 60,966,605 (GRCm39)	G329W	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Vmn1r171	G	T	7: 23,332,602 (GRCm39)	V276L	probably benign	Het
Vps13b	T	C	15: 35,422,514 (GRCm39)	L158P	probably damaging	Het
Vps54	A	G	11: 21,256,434 (GRCm39)	I634M	possibly damaging	Het
Vwa8	T	G	14: 79,258,060 (GRCm39)	S736R	probably benign	Het

Other mutations in Parp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Parp6	APN	9	59,540,242 (GRCm39)	missense	probably damaging	1.00
IGL01366:Parp6	APN	9	59,543,996 (GRCm39)	missense	possibly damaging	0.75
IGL01385:Parp6	APN	9	59,537,895 (GRCm39)	splice site	probably benign
IGL02000:Parp6	APN	9	59,556,175 (GRCm39)	missense	probably benign	0.00
IGL02001:Parp6	APN	9	59,557,244 (GRCm39)	missense	possibly damaging	0.90
IGL02315:Parp6	APN	9	59,549,021 (GRCm39)	intron	probably benign
IGL02719:Parp6	APN	9	59,538,021 (GRCm39)	missense	probably benign	0.26
IGL02928:Parp6	APN	9	59,548,346 (GRCm39)	missense	possibly damaging	0.70
IGL03169:Parp6	APN	9	59,557,300 (GRCm39)	nonsense	probably null
IGL03398:Parp6	APN	9	59,548,336 (GRCm39)	missense	probably damaging	0.97
R0165:Parp6	UTSW	9	59,540,208 (GRCm39)	missense	probably damaging	1.00
R0781:Parp6	UTSW	9	59,556,847 (GRCm39)	missense	probably damaging	0.99
R1110:Parp6	UTSW	9	59,556,847 (GRCm39)	missense	probably damaging	0.99
R1730:Parp6	UTSW	9	59,540,821 (GRCm39)	nonsense	probably null
R1783:Parp6	UTSW	9	59,540,821 (GRCm39)	nonsense	probably null
R2264:Parp6	UTSW	9	59,531,288 (GRCm39)	missense	probably damaging	1.00
R4323:Parp6	UTSW	9	59,537,969 (GRCm39)	missense	possibly damaging	0.84
R4654:Parp6	UTSW	9	59,548,383 (GRCm39)	splice site	probably null
R4672:Parp6	UTSW	9	59,547,393 (GRCm39)	missense	probably damaging	1.00
R4673:Parp6	UTSW	9	59,547,393 (GRCm39)	missense	probably damaging	1.00
R4708:Parp6	UTSW	9	59,549,052 (GRCm39)	missense	probably damaging	0.98
R4709:Parp6	UTSW	9	59,549,052 (GRCm39)	missense	probably damaging	0.98
R4763:Parp6	UTSW	9	59,538,648 (GRCm39)	missense	probably damaging	1.00
R4782:Parp6	UTSW	9	59,542,267 (GRCm39)	splice site	probably null
R4825:Parp6	UTSW	9	59,531,645 (GRCm39)	splice site	probably null
R5563:Parp6	UTSW	9	59,535,956 (GRCm39)	splice site	probably null
R5700:Parp6	UTSW	9	59,532,010 (GRCm39)	missense	probably damaging	1.00
R6235:Parp6	UTSW	9	59,538,098 (GRCm39)	missense	probably benign	0.34
R6269:Parp6	UTSW	9	59,557,295 (GRCm39)	missense	probably benign
R6383:Parp6	UTSW	9	59,531,222 (GRCm39)	missense	probably damaging	0.99
R9170:Parp6	UTSW	9	59,531,213 (GRCm39)	missense
X0061:Parp6	UTSW	9	59,538,048 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ACCAGCCAGCCATTTTGAGACTAAC -3'
(R):5'- AGGGCTGCTTTTGGACTCACAC -3'

Sequencing Primer
(F):5'- CAGCCATTTTGAGACTAACTCTAAC -3'
(R):5'- AACCTTGTGCAGACATGGTC -3'

Posted On

2013-07-11