Mutagenetix > Incidental Mutation

Incidental Mutation 'R7360:Parp8'

571280

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116895771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 289 (T289A)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239
AA Change: T289A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: T289A

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

probably benign
Transcript: ENSMUST00000223949
AA Change: T250A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

silent
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	T	6: 129,326,747	R85H	probably benign	Het
4932415D10Rik	T	C	10: 82,296,507	D223G	unknown	Het
Acot11	G	C	4: 106,749,351	P534A	possibly damaging	Het
Arhgef26	T	A	3: 62,448,205	Y733N	possibly damaging	Het
Aste1	G	T	9: 105,397,636	M358I	probably damaging	Het
B4galnt3	C	T	6: 120,232,979	W61*	probably null	Het
Brd9	C	T	13: 73,944,823	R311W	probably benign	Het
Cdkn1c	T	C	7: 143,460,694	D5G	possibly damaging	Het
Cerk	A	G	15: 86,159,126	F158S	probably damaging	Het
Cnot4	T	A	6: 35,065,006	E235V	probably damaging	Het
Crmp1	T	C	5: 37,276,280	V275A	possibly damaging	Het
Dcbld2	C	A	16: 58,465,320		probably null	Het
Dip2a	T	C	10: 76,278,560	R1029G	probably damaging	Het
Dnaaf1	A	G	8: 119,577,351	T43A	probably benign	Het
Eaf2	C	T	16: 36,828,152	S2N	probably benign	Het
Eif2b4	T	C	5: 31,191,375	D164G	probably benign	Het
Fpgs	T	C	2: 32,693,993	Y45C	possibly damaging	Het
Gm1527	C	T	3: 28,914,542	Q248*	probably null	Het
Gm29666	C	T	15: 84,914,268	A31T	unknown	Het
Gmip	C	A	8: 69,811,242	A112D	probably damaging	Het
Hibadh	C	T	6: 52,640,212	G13S	probably benign	Het
Hmcn1	A	T	1: 150,618,846	V4164D	probably damaging	Het
Kif15	A	T	9: 122,991,137	N580I	probably benign	Het
Krt25	G	A	11: 99,317,406	T332M	probably benign	Het
Krt88	G	T	15: 101,447,762		probably benign	Het
Lrrk2	T	C	15: 91,731,655		probably null	Het
Mapkapk5	A	G	5: 121,537,106		probably benign	Het
Myh7b	C	T	2: 155,632,540	S1725L	probably benign	Het
Nckap1l	T	G	15: 103,476,099		probably null	Het
Nphp3	A	G	9: 104,016,078		probably null	Het
Obscn	A	C	11: 59,082,359	V1996G	probably damaging	Het
Olfr1196	A	T	2: 88,700,987	V114E	probably damaging	Het
Olfr761	T	A	17: 37,953,009	N5I	probably damaging	Het
Pcsk5	T	C	19: 17,515,213	K932R	probably benign	Het
Pde4dip	T	C	3: 97,718,316	D1322G	probably benign	Het
Peli3	A	T	19: 4,935,075	M136K	possibly damaging	Het
Pgm5	A	G	19: 24,834,817	I117T	probably damaging	Het
Ppm1g	T	C	5: 31,203,277	D478G	probably damaging	Het
Ppp2r5c	A	G	12: 110,574,838	T474A	probably benign	Het
Ptger3	T	C	3: 157,567,127	V37A	probably benign	Het
Ptprz1	T	C	6: 23,000,907	S999P	probably damaging	Het
Pygl	C	T	12: 70,227,532	G18S	probably benign	Het
Rest	T	C	5: 77,281,129	V465A	probably benign	Het
Sart1	T	C	19: 5,383,203	D422G	probably damaging	Het
Sgk1	A	G	10: 21,994,073	M4V	probably benign	Het
Slc33a1	A	G	3: 63,947,654	V395A	possibly damaging	Het
Slc38a11	A	T	2: 65,353,795	S171T	possibly damaging	Het
Slc4a2	T	A	5: 24,429,715	S76T	probably benign	Het
Ssc4d	T	A	5: 135,966,111	S184C	probably damaging	Het
Tspoap1	A	G	11: 87,778,521	Y1540C	probably benign	Het
Ube3a	T	A	7: 59,276,635	L408Q	probably damaging	Het
Usp43	C	A	11: 67,876,329		probably null	Het
Zan	A	C	5: 137,386,970	V5067G	unknown	Het
Zfp180	C	A	7: 24,105,490	L445I	probably damaging	Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	116927323	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	116895064	missense	possibly damaging	0.72
IGL01793:Parp8	APN	13	116910879	missense	probably damaging	1.00
IGL01926:Parp8	APN	13	116862302	splice site	probably benign
IGL01958:Parp8	APN	13	116876572	missense	probably benign	0.14
IGL02131:Parp8	APN	13	116910873	missense	probably benign	0.08
IGL02398:Parp8	APN	13	116910863	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116862302	splice site	probably benign
IGL03135:Parp8	APN	13	116910942	missense	probably benign	0.41
IGL03143:Parp8	APN	13	116910961	splice site	probably benign
IGL03201:Parp8	APN	13	116863069	splice site	probably benign
blondi	UTSW	13	116893041	missense	possibly damaging	0.77
Heidi	UTSW	13	116862204	splice site	probably null
R0362:Parp8	UTSW	13	116924968	nonsense	probably null
R0699:Parp8	UTSW	13	116922584	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117025350	splice site	probably null
R1676:Parp8	UTSW	13	116877528	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	116910913	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	116868432	splice site	probably benign
R2049:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2142:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2474:Parp8	UTSW	13	116893041	missense	possibly damaging	0.77
R2566:Parp8	UTSW	13	116895687	missense	possibly damaging	0.78
R3863:Parp8	UTSW	13	116894767	missense	probably benign	0.01
R4126:Parp8	UTSW	13	116868469	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	116868536	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116862204	splice site	probably null
R5633:Parp8	UTSW	13	116876580	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	116869433	missense	probably benign	0.12
R5978:Parp8	UTSW	13	116895732	missense	probably benign	0.01
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	116895115	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	116895091	missense	probably damaging	1.00
R7139:Parp8	UTSW	13	117025266	missense	probably benign	0.21
R7305:Parp8	UTSW	13	116894925	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	116868460	missense	probably benign	0.01
R7526:Parp8	UTSW	13	116894805	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	116924983	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	116867073	nonsense	probably null
R8372:Parp8	UTSW	13	116855250	missense	probably damaging	1.00
R9005:Parp8	UTSW	13	116876590	missense	probably benign
R9072:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	116864245	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	116893026	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	116902824	nonsense	probably null
R9470:Parp8	UTSW	13	116894756	missense	probably benign	0.02
R9562:Parp8	UTSW	13	116893095	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ACTTCTAAGCTAGGTGGAGACC -3'
(R):5'- GTGCAGTATATATCTATTGGTGCAC -3'

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

Posted On

2019-09-13