Mutagenetix > Incidental Mutation

Incidental Mutation 'R0699:Parp8'

218764

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

038883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0699 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116922584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 168 (H168Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000225974] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239
AA Change: H207Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: H207Q

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
AA Change: H168Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224157

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably benign
Transcript: ENSMUST00000225974

Predicted Effect

probably benign
Transcript: ENSMUST00000226107
AA Change: H168Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0595

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (120/123)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	G	T	4: 144,419,752	N110K	probably damaging	Het
2010300C02Rik	T	C	1: 37,612,330	D1152G	possibly damaging	Het
Abca13	G	A	11: 9,588,508		probably benign	Het
Abcb6	C	T	1: 75,171,909	E89K	probably damaging	Het
Adam25	C	A	8: 40,755,974	T759K	probably benign	Het
Adgrf5	G	A	17: 43,422,661		probably null	Het
Aimp1	A	T	3: 132,674,865		probably benign	Het
Aldh3a2	C	T	11: 61,262,322	V193I	probably benign	Het
Ank2	C	T	3: 126,929,829	V950I	probably benign	Het
Aspn	A	G	13: 49,551,782	D40G	possibly damaging	Het
C1rl	A	G	6: 124,508,636	D322G	probably benign	Het
Car5a	T	C	8: 121,944,816		probably benign	Het
Cfap157	T	A	2: 32,779,010	K360N	probably damaging	Het
Cilp	T	A	9: 65,270,326	F117Y	probably damaging	Het
Cntnap5c	T	G	17: 58,042,498	W269G	probably damaging	Het
Col6a1	A	G	10: 76,716,280	V459A	unknown	Het
Commd3	A	G	2: 18,674,975	E165G	possibly damaging	Het
Cops3	A	C	11: 59,826,322	Y244D	probably damaging	Het
Cpne5	T	A	17: 29,209,693	K108N	probably damaging	Het
Ddx41	A	G	13: 55,531,299		probably benign	Het
Dnhd1	T	C	7: 105,651,906	Y157H	probably damaging	Het
Dpp8	A	T	9: 65,054,894	L405F	probably benign	Het
Dync2h1	G	T	9: 7,103,680	A365E	probably benign	Het
Dysf	C	T	6: 84,190,846	R1757W	probably benign	Het
Eif1ad	T	A	19: 5,368,698	V93D	possibly damaging	Het
Eif2ak3	T	C	6: 70,892,530	F734L	probably benign	Het
F8	T	C	X: 75,379,624		probably benign	Het
Fbxl14	T	C	6: 119,480,754	Y299H	probably benign	Het
Fmo1	T	C	1: 162,833,772	N314S	probably benign	Het
Fnip2	T	C	3: 79,481,139	T762A	probably benign	Het
Gfra1	A	C	19: 58,270,123	S271A	probably benign	Het
Gm9932	T	C	5: 100,199,072	V43A	probably damaging	Het
Herc6	T	C	6: 57,581,107	L24P	probably damaging	Het
Hmcn1	T	C	1: 150,819,410	T248A	probably damaging	Het
Hook1	T	A	4: 95,995,840		probably benign	Het
Ifne	T	C	4: 88,879,777	S135G	probably benign	Het
Igkv13-84	G	A	6: 68,939,651		probably benign	Het
Itm2b	T	A	14: 73,364,625	N211I	probably damaging	Het
Kcnh5	A	T	12: 74,976,531	C588S	possibly damaging	Het
Kif13a	A	T	13: 46,799,213	W699R	possibly damaging	Het
Kmt2e	T	C	5: 23,473,583	V220A	probably benign	Het
Macrod2	T	C	2: 140,418,916		probably null	Het
Map3k6	A	G	4: 133,248,126	E724G	probably damaging	Het
Mgam	T	C	6: 40,643,019	L14P	possibly damaging	Het
Morc1	T	A	16: 48,592,614	M706K	probably benign	Het
Muc2	T	C	7: 141,752,300	V242A	probably damaging	Het
Mx2	T	A	16: 97,544,553	V57E	probably damaging	Het
Myh14	C	A	7: 44,624,971	A1339S	possibly damaging	Het
Myom1	G	T	17: 71,067,313	S595I	probably damaging	Het
Nav1	T	A	1: 135,452,949	M1471L	probably benign	Het
Ncapd2	A	C	6: 125,169,880	S1248A	probably benign	Het
Ncbp1	T	C	4: 46,147,528	V125A	probably benign	Het
Ncor2	A	T	5: 125,029,112		probably benign	Het
Nobox	T	A	6: 43,307,210	Q134L	probably benign	Het
Npc1	T	C	18: 12,210,575	T454A	probably benign	Het
Ntng1	G	T	3: 109,872,295	T322K	probably damaging	Het
Olfm5	T	C	7: 104,154,119	E379G	probably damaging	Het
Olfr1202	A	T	2: 88,817,224	N18Y	probably damaging	Het
Olfr1212	C	T	2: 88,958,616	T50I	probably benign	Het
Olfr1218	C	T	2: 89,055,292	V45M	possibly damaging	Het
Olfr1378	T	C	11: 50,969,818	S267P	probably damaging	Het
Olfr362	T	C	2: 37,105,062	D196G	possibly damaging	Het
Oma1	T	C	4: 103,353,595	S433P	probably damaging	Het
Parp14	G	A	16: 35,860,585	T226M	probably damaging	Het
Pik3cg	G	A	12: 32,197,342		probably benign	Het
Pla2g16	T	A	19: 7,558,001		probably null	Het
Pla2g3	T	C	11: 3,492,000	F388S	probably damaging	Het
Pllp	T	C	8: 94,696,032		probably null	Het
Ppfibp1	T	A	6: 147,026,222	V778E	probably damaging	Het
Prkci	T	C	3: 31,050,273	V595A	possibly damaging	Het
Prune2	T	A	19: 17,123,955	D2274E	probably damaging	Het
Rad51ap2	A	T	12: 11,457,600	T508S	probably benign	Het
Ranbp3l	T	C	15: 9,058,769		probably null	Het
Rfc1	A	C	5: 65,319,399		probably null	Het
Rin3	G	A	12: 102,369,575	V502I	probably damaging	Het
Rtn4rl1	A	T	11: 75,265,222	H160L	possibly damaging	Het
Rtn4rl1	A	T	11: 75,265,224	I161F	probably benign	Het
Serpinb9b	A	T	13: 33,033,566	M116L	probably benign	Het
Sgo2a	C	T	1: 57,998,149	R18*	probably null	Het
Sh3gl2	T	A	4: 85,347,171	D31E	probably benign	Het
Slc38a9	T	C	13: 112,723,289	L419S	probably damaging	Het
Sp8	AGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGG	12: 118,848,820		probably benign	Het
Spen	G	T	4: 141,474,391	N2308K	possibly damaging	Het
Stac2	A	G	11: 98,042,785	I156T	possibly damaging	Het
Stambp	A	G	6: 83,556,321	F320S	probably damaging	Het
Tas2r117	A	T	6: 132,803,198	N100Y	probably damaging	Het
Tigd3	A	T	19: 5,891,946	S385R	probably benign	Het
Tmem30c	T	C	16: 57,276,789	D136G	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnrc6c	A	G	11: 117,722,621	Q535R	probably benign	Het
Trmt2a	T	C	16: 18,249,529	V22A	probably benign	Het
Wipf3	A	C	6: 54,483,832	K88N	probably damaging	Het
Zcchc6	G	A	13: 59,782,014		probably benign	Het
Zfp974	T	C	7: 27,911,991	E103G	possibly damaging	Het
Zscan10	C	T	17: 23,608,118	T135I	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
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
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'- GCCCTGAAATCACAAGTGTCTGTCC -3'
(R):5'- TCCTGCAATGCCGGAGTCTTTTG -3'

Sequencing Primer
(F):5'- atcacaagtgtctgtccacAGC -3'
(R):5'- GCCGGAGTCTTTTGCACAG -3'

Posted On

2014-08-20