Mutagenetix > Incidental Mutation

Incidental Mutation 'R2019:Parp8'

223686

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

040028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2019 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 116868432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153188 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,458,065	F252L	possibly damaging	Het
Abcc9	G	A	6: 142,675,434	L527F	probably damaging	Het
Abi3bp	A	G	16: 56,677,796	T918A	probably damaging	Het
Acpp	C	T	9: 104,324,702	G81R	probably damaging	Het
Acss3	C	T	10: 106,936,207	S669N	probably benign	Het
Akt1	T	C	12: 112,659,625	N71S	probably damaging	Het
Amz1	G	T	5: 140,751,964	M326I	probably benign	Het
Ankrd36	A	G	11: 5,689,140	I1351V	probably benign	Het
Art2b	T	C	7: 101,579,987	D235G	probably benign	Het
Ccdc141	A	C	2: 77,011,565	I1507M	probably damaging	Het
Dck	A	G	5: 88,774,084	Y135C	probably damaging	Het
Dmbt1	T	G	7: 131,110,989	I1563S	possibly damaging	Het
Dnttip2	T	C	3: 122,280,744	V610A	possibly damaging	Het
Efhb	A	G	17: 53,401,477	S722P	probably damaging	Het
Emx2	A	G	19: 59,459,339	S42G	probably benign	Het
Ermard	C	T	17: 15,053,265	R371C	probably damaging	Het
Fat1	T	G	8: 45,023,746	I1943S	probably damaging	Het
Fignl1	T	C	11: 11,802,054	K334E	probably damaging	Het
Fmn1	A	C	2: 113,364,480	K175T	unknown	Het
Gm7247	A	T	14: 51,365,347	M47L	possibly damaging	Het
Gpalpp1	A	T	14: 76,110,691		probably null	Het
Hc	A	C	2: 35,013,528	F1038C	probably damaging	Het
Ifngr1	A	T	10: 19,592,113	M10L	probably damaging	Het
Irx5	T	G	8: 92,358,364	Y61D	probably damaging	Het
Itgax	A	G	7: 128,148,526	H1038R	probably benign	Het
Jag1	C	T	2: 137,084,679	E982K	probably benign	Het
Klhdc9	T	C	1: 171,358,941	D309G	probably damaging	Het
Lamp3	A	T	16: 19,701,211	M74K	probably benign	Het
Lrpprc	A	T	17: 84,752,331	L685Q	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mgat5b	A	G	11: 116,947,348	Y271C	probably benign	Het
Mtmr6	T	C	14: 60,298,992	M557T	probably benign	Het
Myo16	T	C	8: 10,376,260	L339P	probably benign	Het
Neb	G	T	2: 52,232,276	Y580*	probably null	Het
Npat	A	G	9: 53,562,491	K528E	probably benign	Het
Olfr1032	A	T	2: 86,008,223	Y149F	probably damaging	Het
Olfr1245	A	G	2: 89,575,393	V111A	probably damaging	Het
Olfr350	A	T	2: 36,850,406	Y120F	possibly damaging	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Phospho1	G	A	11: 95,831,106	V201M	probably damaging	Het
Piezo1	A	G	8: 122,482,712	F2371L	probably benign	Het
Pitpnm1	T	C	19: 4,113,641	S1209P	probably damaging	Het
Pkd1	T	A	17: 24,568,684	C20*	probably null	Het
Prdm5	C	A	6: 65,831,356	N95K	probably damaging	Het
Prkx	T	C	X: 77,765,404	D270G	probably damaging	Het
Ptgis	A	G	2: 167,208,279	V310A	probably damaging	Het
Ptgis	G	A	2: 167,214,810	Q286*	probably null	Het
Rpf1	T	A	3: 146,521,221	N59I	probably damaging	Het
Rpl3l	A	C	17: 24,735,516		probably benign	Het
Ryr2	C	T	13: 11,851,188	G292D	possibly damaging	Het
Ryr3	G	T	2: 112,781,065	N2257K	probably benign	Het
Sla	T	C	15: 66,782,555	Y278C	probably damaging	Het
Slc4a10	A	T	2: 62,234,381	D193V	probably damaging	Het
Spire2	T	C	8: 123,332,918	C52R	probably damaging	Het
Tada2b	T	C	5: 36,483,906	Y51C	probably damaging	Het
Tarbp1	C	T	8: 126,428,114	V1424I	probably damaging	Het
Tbpl1	T	A	10: 22,707,677	E131D	probably damaging	Het
Tgfbrap1	A	G	1: 43,054,517		probably null	Het
Tmem116	A	G	5: 121,489,254	I151M	possibly damaging	Het
Tmem30a	T	C	9: 79,774,218	D223G	probably damaging	Het
Trim13	T	A	14: 61,604,886	C117*	probably null	Het
Ttn	C	G	2: 76,755,332	D21987H	probably damaging	Het
Txnrd1	G	A	10: 82,877,373	V90I	probably benign	Het
Unc79	G	A	12: 103,171,571		probably null	Het
Upp1	A	T	11: 9,133,240	M111L	possibly damaging	Het
Vmn2r79	G	T	7: 87,002,426	L344F	probably benign	Het
Vps39	T	C	2: 120,343,227	Y147C	probably damaging	Het
Wdr59	A	G	8: 111,466,793	Y666H	probably damaging	Het
Wdr95	A	G	5: 149,574,148		probably benign	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
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
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'- TGTGAGAGCCACTAAAACACAG -3'
(R):5'- CTTAAGCTGGTAAAATGTTGACGTG -3'

Sequencing Primer
(F):5'- GGCACAAAGTCAGGTGTCTCTAC -3'
(R):5'- ACGTGACGTCACTTCTTCC -3'

Posted On

2014-08-25