Mutagenetix > Incidental Mutation

Incidental Mutation 'R2566:Parp8'

254498

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

040425-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116991356-117162073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117032223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 278 (S278P)

Ref Sequence

ENSEMBL: ENSMUSP00000152911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022239
AA Change: S317P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: S317P

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
internal_repeat_1	332	410	4.61e-10	PROSPERO
internal_repeat_1	404	476	4.61e-10	PROSPERO
low complexity region	497	514	N/A	INTRINSIC
Pfam:PARP	712	839	2e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223949
AA Change: S278P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,055,701 (GRCm39)	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,055,783 (GRCm39)	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 112,964,359 (GRCm39)		probably benign	Het
Ahi1	T	A	10: 20,846,810 (GRCm39)	C413*	probably null	Het
Alms1	T	A	6: 85,599,464 (GRCm39)	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,225,220 (GRCm39)	A894S	probably benign	Het
Arhgap33	C	A	7: 30,226,654 (GRCm39)	V494L	probably damaging	Het
Atic	G	T	1: 71,608,130 (GRCm39)	V275F	probably damaging	Het
Atoh1	T	A	6: 64,706,668 (GRCm39)	V121E	probably damaging	Het
Atp5pd	T	A	11: 115,306,864 (GRCm39)		probably null	Het
Baiap2l2	A	T	15: 79,146,174 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,465,227 (GRCm39)	T1664S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,835,464 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,692,621 (GRCm39)		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,500,368 (GRCm39)	F457S	probably damaging	Het
Disp3	T	A	4: 148,325,880 (GRCm39)	T1293S	probably damaging	Het
Dock10	T	A	1: 80,517,970 (GRCm39)	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,380,380 (GRCm39)	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,237,477 (GRCm39)	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,289,295 (GRCm39)	I259N	probably benign	Het
Fam149b	A	T	14: 20,425,578 (GRCm39)	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,458,285 (GRCm39)	K102E	probably benign	Het
Fzd7	C	A	1: 59,523,695 (GRCm39)	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,966,330 (GRCm39)	I35N	probably damaging	Het
Gars1	T	A	6: 55,042,548 (GRCm39)	M427K	probably damaging	Het
Gimap4	C	T	6: 48,667,799 (GRCm39)	R57C	probably damaging	Het
Gm11232	C	A	4: 71,676,022 (GRCm39)	W41L	probably benign	Het
Gm15737	T	A	6: 92,856,701 (GRCm39)	C43*	probably null	Het
Gpr180	T	C	14: 118,377,185 (GRCm39)	V62A	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,591,197 (GRCm39)	E27V	possibly damaging	Het
Kcnq3	T	C	15: 65,903,276 (GRCm39)	T145A	probably damaging	Het
Krt8	A	G	15: 101,906,459 (GRCm39)	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,676,492 (GRCm39)		probably benign	Het
Lbr	G	T	1: 181,663,692 (GRCm39)	D109E	probably damaging	Het
Ldc1	A	T	4: 130,103,681 (GRCm39)	L420Q	probably benign	Het
Med23	A	G	10: 24,764,473 (GRCm39)	H42R	probably damaging	Het
Mgat5	A	T	1: 127,234,741 (GRCm39)	M77L	probably benign	Het
Mlf1	A	T	3: 67,291,919 (GRCm39)	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,125,864 (GRCm39)	L343R	probably damaging	Het
Mrpl37	T	A	4: 106,921,690 (GRCm39)	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,536,836 (GRCm39)	C116*	probably null	Het
Muc6	A	G	7: 141,226,651 (GRCm39)	S1354P	possibly damaging	Het
Myh7	A	T	14: 55,220,699 (GRCm39)	D1033E	probably damaging	Het
Myo16	A	T	8: 10,644,820 (GRCm39)	E1717D	probably benign	Het
Myo1g	T	A	11: 6,462,539 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,367 (GRCm39)	M262T	probably benign	Het
Or6c217	A	C	10: 129,737,964 (GRCm39)	L205R	probably damaging	Het
Pan2	T	C	10: 128,149,766 (GRCm39)	L576P	probably damaging	Het
Pdk2	A	G	11: 94,918,028 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,156,062 (GRCm39)	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,746,233 (GRCm39)	Y1919C	probably damaging	Het
Postn	T	A	3: 54,284,374 (GRCm39)	S614T	probably damaging	Het
Psmg1	A	T	16: 95,783,395 (GRCm39)	Y213*	probably null	Het
Rab11b	T	A	17: 33,966,692 (GRCm39)	T203S	probably benign	Het
Rad54l2	T	A	9: 106,580,825 (GRCm39)	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rapgef6	A	G	11: 54,578,537 (GRCm39)	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,669,197 (GRCm39)	S58P	possibly damaging	Het
Rreb1	G	T	13: 38,113,768 (GRCm39)	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 21,124,767 (GRCm39)	N345I	probably benign	Het
Sf3b2	A	T	19: 5,325,118 (GRCm39)	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,068,098 (GRCm39)	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,987,704 (GRCm39)	T668A	probably benign	Het
Stkld1	T	A	2: 26,840,650 (GRCm39)	I444N	probably damaging	Het
Sucla2	A	T	14: 73,790,244 (GRCm39)		probably benign	Het
Tmem67	T	A	4: 12,079,918 (GRCm39)	L190F	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trem2	G	A	17: 48,658,863 (GRCm39)	W191*	probably null	Het
Ube2d4	A	T	15: 58,718,528 (GRCm39)		noncoding transcript	Het
Uimc1	G	T	13: 55,223,617 (GRCm39)	D218E	probably damaging	Het
Wdr62	A	T	7: 29,973,424 (GRCm39)	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,310,203 (GRCm39)	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522 (GRCm39)	S163T	probably benign	Het
Zfp704	T	C	3: 9,674,553 (GRCm39)	D76G	unknown	Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	117,063,859 (GRCm39)	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	117,031,600 (GRCm39)	missense	possibly damaging	0.72
IGL01793:Parp8	APN	13	117,047,415 (GRCm39)	missense	probably damaging	1.00
IGL01926:Parp8	APN	13	116,998,838 (GRCm39)	splice site	probably benign
IGL01958:Parp8	APN	13	117,013,108 (GRCm39)	missense	probably benign	0.14
IGL02131:Parp8	APN	13	117,047,409 (GRCm39)	missense	probably benign	0.08
IGL02398:Parp8	APN	13	117,047,399 (GRCm39)	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116,998,838 (GRCm39)	splice site	probably benign
IGL03135:Parp8	APN	13	117,047,478 (GRCm39)	missense	probably benign	0.41
IGL03143:Parp8	APN	13	117,047,497 (GRCm39)	splice site	probably benign
IGL03201:Parp8	APN	13	116,999,605 (GRCm39)	splice site	probably benign
blondi	UTSW	13	117,029,577 (GRCm39)	missense	possibly damaging	0.77
Heidi	UTSW	13	116,998,740 (GRCm39)	splice site	probably null
R0362:Parp8	UTSW	13	117,061,504 (GRCm39)	nonsense	probably null
R0699:Parp8	UTSW	13	117,059,120 (GRCm39)	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117,161,886 (GRCm39)	splice site	probably null
R1676:Parp8	UTSW	13	117,014,064 (GRCm39)	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	117,047,449 (GRCm39)	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	117,004,968 (GRCm39)	splice site	probably benign
R2049:Parp8	UTSW	13	117,031,422 (GRCm39)	missense	probably benign	0.20
R2142:Parp8	UTSW	13	117,031,422 (GRCm39)	missense	probably benign	0.20
R2474:Parp8	UTSW	13	117,029,577 (GRCm39)	missense	possibly damaging	0.77
R3863:Parp8	UTSW	13	117,031,303 (GRCm39)	missense	probably benign	0.01
R4126:Parp8	UTSW	13	117,005,005 (GRCm39)	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	117,032,209 (GRCm39)	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	117,032,209 (GRCm39)	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	117,005,072 (GRCm39)	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116,998,740 (GRCm39)	splice site	probably null
R5633:Parp8	UTSW	13	117,013,116 (GRCm39)	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	117,005,969 (GRCm39)	missense	probably benign	0.12
R5978:Parp8	UTSW	13	117,032,268 (GRCm39)	missense	probably benign	0.01
R6039:Parp8	UTSW	13	117,014,134 (GRCm39)	missense	probably damaging	1.00
R6039:Parp8	UTSW	13	117,014,134 (GRCm39)	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	117,031,651 (GRCm39)	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	117,031,627 (GRCm39)	missense	probably damaging	1.00
R7139:Parp8	UTSW	13	117,161,802 (GRCm39)	missense	probably benign	0.21
R7305:Parp8	UTSW	13	117,031,461 (GRCm39)	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	117,004,996 (GRCm39)	missense	probably benign	0.01
R7360:Parp8	UTSW	13	117,032,307 (GRCm39)	missense	probably benign	0.02
R7526:Parp8	UTSW	13	117,031,341 (GRCm39)	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	117,061,519 (GRCm39)	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	117,003,609 (GRCm39)	nonsense	probably null
R8372:Parp8	UTSW	13	116,991,786 (GRCm39)	missense	probably damaging	1.00
R9005:Parp8	UTSW	13	117,013,126 (GRCm39)	missense	probably benign
R9072:Parp8	UTSW	13	117,047,951 (GRCm39)	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	117,047,951 (GRCm39)	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	117,000,781 (GRCm39)	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	117,029,562 (GRCm39)	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	117,039,360 (GRCm39)	nonsense	probably null
R9470:Parp8	UTSW	13	117,031,292 (GRCm39)	missense	probably benign	0.02
R9562:Parp8	UTSW	13	117,029,631 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GGCACCTGTAACTCCGACTT -3'
(R):5'- CACAACTCATACTTAGCCTTTTACT -3'

Sequencing Primer
(F):5'- GTAACTCCGACTTTTCTTGGAAG -3'
(R):5'- GGGATGGTAGCACACACCTTTAATC -3'

Posted On

2014-12-04