Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Parp8'

567840

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 #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116868460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 727 (F727L)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239
AA Change: F727L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: F727L

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: F688L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	G	14: 35,811,649	V54A	probably benign	Het
Abcc10	C	A	17: 46,315,404	A704S	probably damaging	Het
Adss	A	G	1: 177,767,751	W408R	probably damaging	Het
Aplp1	T	C	7: 30,435,989	E548G	probably damaging	Het
C4b	C	T	17: 34,740,356	V415I	probably benign	Het
Celsr3	T	C	9: 108,829,144	V942A	probably damaging	Het
Cstf1	A	G	2: 172,373,034	D25G	probably damaging	Het
Dnah14	A	T	1: 181,785,254		probably null	Het
Dnah9	G	A	11: 65,989,851	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,582,396	I315V	probably damaging	Het
Endod1	T	C	9: 14,356,999	S397G	probably benign	Het
Eps8	A	G	6: 137,527,092	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,769,102	E273G	probably damaging	Het
Gm10282	C	T	8: 72,304,995	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,825,171	S409T	probably benign	Het
Ireb2	T	C	9: 54,892,510	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,109,739		probably benign	Het
Klhl6	A	G	16: 19,957,005	Y268H	probably damaging	Het
Krt16	T	C	11: 100,247,869	D197G	probably damaging	Het
Lca5	T	C	9: 83,395,510	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,532,112	F84S	probably damaging	Het
Lingo3	T	C	10: 80,834,873	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769	E231*	probably null	Het
Nrip1	A	G	16: 76,291,190	S1160P	probably benign	Het
Oas1g	A	T	5: 120,878,463	L301Q	probably damaging	Het
Obox3	T	A	7: 15,627,154	Q62L	possibly damaging	Het
Olfr1164	A	G	2: 88,093,114	L274P	probably benign	Het
Olfr524	A	T	7: 140,202,413	V119D	probably damaging	Het
Pcdha1	T	C	18: 36,931,500	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,762,999	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,301,351	L539*	probably null	Het
Phkb	A	G	8: 85,942,392		probably null	Het
Ppp1r13b	T	C	12: 111,846,356	E143G	probably damaging	Het
Rpap2	T	C	5: 107,620,379	V361A	probably damaging	Het
Setd4	T	C	16: 93,587,823	T326A	probably benign	Het
Smad9	A	G	3: 54,789,323	N270D	probably benign	Het
Sntg2	A	G	12: 30,267,108	S172P	probably benign	Het
Tecpr1	A	G	5: 144,217,332	L101P	probably damaging	Het
Thap8	G	A	7: 30,289,895	V177I	unknown	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmprss11f	T	C	5: 86,524,053	T427A	possibly damaging	Het
Trhr2	A	G	8: 122,358,750	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,991,600	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,943,340		probably null	Het
Zfp369	T	C	13: 65,292,104	S201P	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
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'- CAGGTGATGTTTCTGGAAGCTC -3'
(R):5'- AGTCACTTTCCATGGGTGATTC -3'

Sequencing Primer
(F):5'- GCTCTGAGTTTCCAAGTTAAATATCC -3'
(R):5'- TCCATGTGAGTCTAACTTAAGCAG -3'

Posted On

2019-06-26