Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Parp8'

714087

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 #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116902824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 274 (K274*)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably null
Transcript: ENSMUST00000022239
AA Change: K274*

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: K274*

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 null
Transcript: ENSMUST00000223949
AA Change: K235*

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	T	9: 103,272,582	Q259K	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Adcy1	T	C	11: 7,149,575	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,186,205	T417K	probably benign	Het
Atp6v1a	T	A	16: 44,111,509	K139*	probably null	Het
Baz1b	T	C	5: 135,210,802	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,938,975	W380R		Het
Cep290	T	G	10: 100,559,684	V2118G	probably benign	Het
Crb2	A	G	2: 37,787,761	D352G	probably benign	Het
Csmd3	T	C	15: 47,596,919	D2581G		Het
Diras2	T	A	13: 52,508,086	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,545,891	V202A	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Dph7	A	T	2: 24,971,940	K455M	probably damaging	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Ehbp1	T	C	11: 22,137,881	N426S	probably benign	Het
Exo5	A	G	4: 120,921,691	W326R	probably damaging	Het
Fam149a	T	A	8: 45,339,374		probably null	Het
Fam205a1	A	T	4: 42,850,250	Y635*	probably null	Het
Flii	T	C	11: 60,715,567	N1099S	probably benign	Het
Flvcr1	T	C	1: 191,012,209	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,128,869	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826	E427*	probably null	Het
Galnt18	A	T	7: 111,554,442	I325N	probably damaging	Het
Gm12394	T	C	4: 42,793,440	R231G	probably benign	Het
Gm5478	T	C	15: 101,645,227	N274S	probably damaging	Het
Grm7	A	T	6: 111,358,232	T535S	probably benign	Het
Heatr5b	T	C	17: 78,760,586	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,571,172	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,327,444	Y46C	probably benign	Het
Kdr	T	C	5: 75,941,909	E1186G	probably benign	Het
Knstrn	T	C	2: 118,814,494		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Ltbp1	C	T	17: 75,359,460	Q1383*	probably null	Het
Mep1a	T	C	17: 43,494,978		probably null	Het
Mep1b	A	G	18: 21,084,142	D106G	probably damaging	Het
Moxd2	T	C	6: 40,887,226	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,414,953		probably null	Het
Nlrp4e	A	T	7: 23,301,531	M84L	probably benign	Het
Noc2l	C	A	4: 156,236,324	R66S	probably benign	Het
Nox4	A	T	7: 87,395,793	L580F	unknown	Het
Numb	A	G	12: 83,842,216		probably null	Het
Olfr1136	A	T	2: 87,693,480	V134E	probably damaging	Het
Olfr365	A	G	2: 37,201,209		probably benign	Het
Pcdh1	G	A	18: 38,197,439	P976L	probably damaging	Het
Pcnt	T	C	10: 76,420,526	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,854,606	D178V	probably damaging	Het
Phldb1	G	T	9: 44,711,249	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,305,811	E111G	probably damaging	Het
Plcb4	G	A	2: 135,910,125	E84K	possibly damaging	Het
Prpf39	T	A	12: 65,061,260	Y646N	probably benign	Het
Psmc6	T	C	14: 45,331,026	F69L	probably benign	Het
Ptk2	T	A	15: 73,343,192	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,732,808	R23W	probably damaging	Het
Ptprb	T	A	10: 116,313,914	Y143*	probably null	Het
Qrich2	T	C	11: 116,447,265	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,579,909		probably benign	Het
Scn5a	A	G	9: 119,552,061	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,349,359	F676S	probably damaging	Het
Spata32	C	T	11: 103,208,822	G286R	probably damaging	Het
Tbx19	T	C	1: 165,153,521	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,625,676	T1494A	probably benign	Het
Tmem62	A	C	2: 120,977,730	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,745,068	V6D	possibly damaging	Het
Tulp4	T	C	17: 6,198,673	V182A	possibly damaging	Het
Vmn2r73	A	T	7: 85,872,819	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,221,694	G159C		Het
Zfy2	A	G	Y: 2,109,904	W338R	probably damaging	Het
Znfx1	T	G	2: 167,046,924	Q788P	probably benign	Het
Zscan26	A	G	13: 21,448,261	V100A	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
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
R9441:Parp8	UTSW	13	116893026	missense	probably damaging	1.00
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'- CCAGGTCCACATGAGCAAGAAG -3'
(R):5'- CACAAAGAATGGTGTCCATCC -3'

Sequencing Primer
(F):5'- CTCGAAAGTGAGCTCAGCG -3'
(R):5'- AAGAATGGTGTCCATCCTTCCTGTG -3'

Posted On

2022-06-15