Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Parp6'

244002

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

040264-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59524567-59557568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59531288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 57 (S57P)

Ref Sequence

ENSEMBL: ENSMUSP00000063065 (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
AA Change: S57P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: S57P

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 damaging
Transcript: ENSMUST00000050483
AA Change: S57P

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

SMART Domains

Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: S57P

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

possibly damaging
Transcript: ENSMUST00000167091
AA Change: S57P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: S57P

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

noncoding transcript
Transcript: ENSMUST00000213419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215381

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216351
AA Change: S57P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217195

Meta Mutation Damage Score

0.2796

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	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
R0602:Parp6	UTSW	9	59,556,648 (GRCm39)	splice site	probably benign
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
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'- ACCAAGAACCTGTGTGCTGC -3'
(R):5'- CAGCCCTTCTTACCTCAAAGG -3'

Sequencing Primer
(F):5'- GTGTGCTGCACTTTATGTCTC -3'
(R):5'- CCTCAAAGGTGAAACTAATGACG -3'

Posted On

2014-10-16