Mutagenetix > Incidental Mutation

Incidental Mutation 'R8372:Parp8'

646509

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 #

R8372 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116855250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 872 (Q872H)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably damaging
Transcript: ENSMUST00000022239
AA Change: Q872H

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

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: Q872H

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: Q833H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,864,288	D155G	probably damaging	Het
Adgrg7	T	A	16: 56,795,751		probably benign	Het
Agap2	T	C	10: 127,089,316	S833P	unknown	Het
B4galnt2	T	C	11: 95,869,280	E307G	possibly damaging	Het
Bcl9l	A	G	9: 44,507,231	M826V	probably benign	Het
C2cd3	C	T	7: 100,455,280	Q2167*	probably null	Het
Ccdc7a	T	C	8: 128,821,104	E1289G	possibly damaging	Het
Cep290	T	C	10: 100,549,341	V1893A	probably benign	Het
Clec4g	T	C	8: 3,707,990		probably benign	Het
Cspg4	A	G	9: 56,887,195	E738G	probably damaging	Het
Cyth4	A	G	15: 78,597,135		probably benign	Het
Dab2	A	C	15: 6,416,925	S8R	possibly damaging	Het
Dclk3	A	G	9: 111,485,013	D719G	probably damaging	Het
Dync2h1	A	G	9: 7,111,514	V2540A	possibly damaging	Het
Elavl1	T	C	8: 4,289,664	N306S	probably damaging	Het
Ercc6l2	T	C	13: 63,853,749	V459A	probably damaging	Het
Fcgr2b	A	G	1: 170,965,761	V233A	probably benign	Het
Gfm2	T	C	13: 97,165,044	S452P	possibly damaging	Het
Gm10229	G	C	16: 89,015,497	G57R	unknown	Het
Gpr15	A	G	16: 58,718,487	F80L	probably benign	Het
Ighv13-2	A	T	12: 114,358,061	C19*	probably null	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Klhl9	A	G	4: 88,721,359	L215P	probably damaging	Het
Olfr826	A	G	10: 130,180,787	F31S	probably damaging	Het
Plxnb2	A	G	15: 89,158,493	S1531P	probably damaging	Het
Psg16	A	G	7: 17,095,315	T275A	probably benign	Het
Ptprk	A	G	10: 28,354,692	T260A	possibly damaging	Het
Rapgef1	G	A	2: 29,710,231	G655S	probably damaging	Het
Rbm15b	T	C	9: 106,885,563	M19V		Het
Rbm42	A	G	7: 30,641,206	S447P	unknown	Het
Rsf1	T	C	7: 97,662,417	S785P		Het
Scnn1a	A	G	6: 125,343,718	N578S	probably damaging	Het
Slc39a7	T	C	17: 34,030,665	N169D	probably damaging	Het
Spp1	A	G	5: 104,440,256	T175A	probably benign	Het
Tigd5	A	G	15: 75,910,488	H233R	probably benign	Het
Tmprss3	C	T	17: 31,184,697	V377I	probably benign	Het
Vmn1r75	A	T	7: 11,880,730	I130F	probably benign	Het
Xpo4	A	G	14: 57,597,884		probably null	Het
Xrn1	A	G	9: 96,024,113	T1186A	probably benign	Het
Zcchc4	T	C	5: 52,796,164	Y172H	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
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
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'- TAGATTCCATAACCCTACAATCGG -3'
(R):5'- TGCATTGTGGGTGTCCCTAC -3'

Sequencing Primer
(F):5'- TTCCATAACCCTACAATCGGTAAATC -3'
(R):5'- TGTCCCTACAAGTCTGGCAGTG -3'

Posted On

2020-09-02