Mutagenetix > Incidental Mutation

Incidental Mutation 'R5633:Parp8'

439995

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

043284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116876580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 602 (R602H)

Ref Sequence

ENSEMBL: ENSMUSP00000152911 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably damaging
Transcript: ENSMUST00000022239
AA Change: R641H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: R641H

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 damaging
Transcript: ENSMUST00000223949
AA Change: R602H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,618,028	C125S	probably benign	Het
Abcb8	T	C	5: 24,403,109	L382P	probably damaging	Het
Acot3	A	G	12: 84,058,950		probably null	Het
Acsl6	A	T	11: 54,337,189	Q345L	probably benign	Het
Adcy8	A	G	15: 64,699,285	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,735,065	D182A	probably damaging	Het
B3galt5	A	T	16: 96,315,509	H114L	probably benign	Het
BC053393	C	T	11: 46,574,606	S9L	unknown	Het
Bcas2	T	A	3: 103,178,424	Y207*	probably null	Het
Best1	A	G	19: 9,992,103	L197P	probably benign	Het
Chil6	C	A	3: 106,388,752	C389F	probably damaging	Het
Chrna4	T	C	2: 181,029,460	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,363,629		probably benign	Het
Dhcr7	T	C	7: 143,847,423	L441P	probably damaging	Het
Dmtn	T	C	14: 70,604,979	M365V	probably benign	Het
Dmxl1	T	A	18: 49,877,697	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,507,419	D150G	probably benign	Het
Eef2k	C	A	7: 120,873,290		probably benign	Het
Elp2	T	A	18: 24,615,210	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,095		probably null	Het
Gm11559	C	A	11: 99,864,586	C20*	probably null	Het
Gnb2	T	C	5: 137,529,192	I213V	probably benign	Het
Gnb5	C	T	9: 75,344,514	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257	I303N	possibly damaging	Het
Idh1	A	G	1: 65,165,136	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,539,097	Q273*	probably null	Het
Itpkb	A	T	1: 180,327,225	⇒1	probably benign	Het
Kntc1	C	T	5: 123,819,057	T2143I	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,748,862	D464E	possibly damaging	Het
Med13	A	G	11: 86,278,931		probably benign	Het
Mn1	T	C	5: 111,420,326	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,868,184	L1026Q	possibly damaging	Het
Olfr773	A	T	10: 129,186,849	F191I	probably benign	Het
P4htm	A	C	9: 108,579,723	D428E	probably damaging	Het
Pkd2	T	A	5: 104,498,506	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,856,488	I359T	probably benign	Het
Rassf6	T	C	5: 90,604,118	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,560,088	I413T	probably damaging	Het
Rpn2	T	A	2: 157,283,596	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,086,990	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,846,587	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,369,261	P163Q	probably damaging	Het
Smc4	T	A	3: 69,008,110	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455	I439K	probably benign	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Trpm2	T	C	10: 77,938,353	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,349	M358T	probably benign	Het
Vmn1r91	A	T	7: 20,101,945	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,561,044	D648G	probably benign	Het
Zpbp2	T	C	11: 98,554,758	I150T	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
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'- GGCAGAGTTGAATTAGACCATCCTC -3'
(R):5'- AGATATCAACCCTCTGTCCCTG -3'

Sequencing Primer
(F):5'- GAGTTGAATTAGACCATCCTCTCACG -3'
(R):5'- GTCCCTGCTTCATCTTAATACAC -3'

Posted On

2016-11-08