Mutagenetix > Incidental Mutation

Incidental Mutation 'R9441:Parp8'

713658

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 #

R9441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116893026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 554 (V554M)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably damaging
Transcript: ENSMUST00000022239
AA Change: V554M

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

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: V554M

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: V515M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 56,010,492	G20V	unknown	Het
Adam22	T	C	5: 8,111,974	T733A	possibly damaging	Het
Adam28	T	A	14: 68,637,494	N245Y	probably damaging	Het
Aldh9a1	C	G	1: 167,350,350	R39G	probably benign	Het
Armc3	A	C	2: 19,248,615	E189A	possibly damaging	Het
Atg9a	C	T	1: 75,186,442	C338Y	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cars	G	A	7: 143,569,448	T560I	probably benign	Het
Casp8ap2	A	G	4: 32,645,873	K1649E	probably benign	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cd84	G	A	1: 171,886,427		probably null	Het
Ces2g	G	T	8: 104,963,991	A135S	possibly damaging	Het
Cfh	T	C	1: 140,102,411	D926G	probably benign	Het
Chrm2	A	G	6: 36,524,020	T271A	probably benign	Het
Col6a3	G	T	1: 90,777,527	Y2824*	probably null	Het
Cth	T	A	3: 157,910,938	R196S	probably damaging	Het
Cyp2g1	T	C	7: 26,814,635	M222T	possibly damaging	Het
Depdc5	T	A	5: 32,937,698	M773K	probably benign	Het
Dmbx1	G	A	4: 115,923,687	P39L	probably damaging	Het
Dst	G	C	1: 34,199,351	W1697C	probably damaging	Het
E330017A01Rik	G	A	16: 58,638,521		probably benign	Het
Eno1	C	T	4: 150,236,751		probably benign	Het
Erc2	G	T	14: 28,080,157	V761L	possibly damaging	Het
Frem1	A	T	4: 83,005,846	I292N	probably damaging	Het
Hip1	G	T	5: 135,431,717	L530M	possibly damaging	Het
Kcna2	A	G	3: 107,104,952	Q283R	probably benign	Het
Kndc1	G	A	7: 139,921,476	D894N	probably damaging	Het
Lats1	G	T	10: 7,702,917	G602W	probably damaging	Het
Lgals12	A	G	19: 7,603,991	L117P	probably damaging	Het
Mfsd4b1	A	T	10: 40,002,684	L406I	possibly damaging	Het
Msln	A	T	17: 25,750,757	M333K	probably benign	Het
Mup2	A	G	4: 60,139,740	V16A	probably benign	Het
Mybpc2	T	C	7: 44,516,906	E220G	probably null	Het
Myh6	A	G	14: 54,960,314	Y456H	probably benign	Het
Nlrp1a	A	G	11: 71,123,108	S439P	probably damaging	Het
Nyap1	T	C	5: 137,734,932	E613G	probably benign	Het
Olfr1358	G	A	10: 78,519,775	V56M	probably benign	Het
Phpt1	A	T	2: 25,574,738	D34E	probably benign	Het
Ppip5k2	G	A	1: 97,745,196	S463L	probably benign	Het
Prss28	A	G	17: 25,311,241	Q173R	probably benign	Het
Rtel1	T	A	2: 181,347,067	W441R	possibly damaging	Het
Serbp1	T	C	6: 67,267,041		probably benign	Het
Skint5	T	C	4: 113,490,651	K1319E	unknown	Het
Slc35a4	G	A	18: 36,683,058	G314S	probably damaging	Het
Slc8a1	A	G	17: 81,649,069	I180T	probably damaging	Het
Spire1	G	A	18: 67,519,392	P205L	probably benign	Het
Tat	G	T	8: 109,993,915	G168W	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Trh	C	T	6: 92,242,958	G126R	probably benign	Het
Ugcg	G	A	4: 59,207,843	G61R	probably damaging	Het
Uggt1	T	C	1: 36,221,225	T170A	probably benign	Het
Unc5b	G	A	10: 60,772,249	P702S	probably damaging	Het
Usp8	A	G	2: 126,720,153	D89G	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,253	I845K	probably damaging	Het
Vnn3	A	G	10: 23,864,600	N267S	possibly damaging	Het
Xkr9	A	G	1: 13,701,363	R368G	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
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
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
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'- CGGAAGTCATATTAATGCCTTTCC -3'
(R):5'- AGCATTCCAATCCGAGACCG -3'

Sequencing Primer
(F):5'- GCCTTTCCATGCAAATGATAGC -3'
(R):5'- GCGGCTTCCTGGTGCAG -3'

Posted On

2022-06-15