Mutagenetix > Incidental Mutation

Incidental Mutation 'R4518:Parp8'

334089

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

041762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116895673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 321 (L321F)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022239
AA Change: L321F

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: L321F

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: L282F

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	T	A	5: 30,106,008		probably null	Het
Abr	A	G	11: 76,472,518	S167P	possibly damaging	Het
Adamtsl2	T	C	2: 27,095,547	L481P	probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Brip1	G	A	11: 86,077,878	A827V	possibly damaging	Het
Carns1	T	G	19: 4,170,070	T389P	probably benign	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cckar	T	C	5: 53,699,922	N311S	probably damaging	Het
Cenpc1	A	G	5: 86,047,587	S108P	possibly damaging	Het
Chpf	G	T	1: 75,475,045	S588R	probably damaging	Het
Clca3a2	T	A	3: 144,808,705	T414S	probably damaging	Het
Cntrl	A	G	2: 35,148,974	E1092G	probably damaging	Het
Crb2	C	A	2: 37,790,389	T443K	probably damaging	Het
Cwf19l1	A	G	19: 44,133,034	V25A	probably damaging	Het
Cyb561d1	T	C	3: 108,199,571	I111V	possibly damaging	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnajb4	T	C	3: 152,185,176	I329V	probably benign	Het
Dnmt1	G	T	9: 20,911,978	D1055E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam168a	C	T	7: 100,834,040	A176V	probably damaging	Het
Farp2	A	G	1: 93,620,641	E1016G	probably benign	Het
Fibcd1	A	T	2: 31,817,195	V350E	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
Golgb1	G	A	16: 36,929,263	E3076K	probably damaging	Het
Grm7	A	G	6: 110,914,546		probably null	Het
Hcn2	T	C	10: 79,724,702	V289A	probably benign	Het
Hipk1	G	T	3: 103,750,372	H799N	probably damaging	Het
Ispd	G	A	12: 36,473,180	V203I	possibly damaging	Het
Klf14	A	G	6: 30,957,932	S256P	possibly damaging	Het
Muc6	T	A	7: 141,644,222	T1214S	probably benign	Het
Nlrp2	T	A	7: 5,325,056	D666V	possibly damaging	Het
Ntng1	A	G	3: 109,935,013	I148T	probably damaging	Het
Olfr1277	T	C	2: 111,269,918	M150V	probably benign	Het
Olfr39	A	G	9: 20,286,250	I184V	probably benign	Het
Olfr845	T	A	9: 19,339,260	S267T	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pacs2	A	G	12: 113,060,669	D360G	probably benign	Het
Pdss2	T	A	10: 43,372,150	S217T	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Ppil2	A	T	16: 17,096,041	F173I	possibly damaging	Het
Prlr	C	A	15: 10,328,999	T520K	possibly damaging	Het
Prokr2	T	A	2: 132,374,092		probably null	Het
Rab3gap2	G	A	1: 185,267,068	V991I	probably benign	Het
Reln	T	C	5: 21,901,743	I3210V	probably benign	Het
Rims2	T	C	15: 39,437,526	Y218H	probably damaging	Het
Slc41a1	T	C	1: 131,839,125	V127A	probably damaging	Het
St8sia6	T	A	2: 13,792,751		probably null	Het
Tlr6	A	G	5: 64,954,904	F220S	possibly damaging	Het
Trmt1l	C	T	1: 151,448,343	Q314*	probably null	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vnn3	G	A	10: 23,867,226	V445M	possibly damaging	Het
Zfhx4	T	C	3: 5,412,518	C3398R	probably damaging	Het
Zfyve16	T	C	13: 92,521,312	E697G	possibly 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
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
R7360:Parp8	UTSW	13	116895771	missense	probably benign	0.02
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'- GGAACTAACTTTTGGAGACATCTC -3'
(R):5'- AGAAGTCCTTGTCAGGTGCC -3'

Sequencing Primer
(F):5'- CAGACAAATGCCCATCTATGTTTTAG -3'
(R):5'- GCCATTGGAACTGTGCTAAC -3'

Posted On

2015-08-18