Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Parp8'

188116

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

039712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1676 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116877528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 623 (D623V)

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: D623V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: D623V

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: D584V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,880,993	A434S	possibly damaging	Het
Abhd8	T	A	8: 71,461,873	D37V	probably damaging	Het
Acvr2a	G	A	2: 48,873,083	S97N	probably benign	Het
Ampd3	T	A	7: 110,795,733	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Cap2	T	G	13: 46,637,859	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616	L180S	probably damaging	Het
Casp8	T	A	1: 58,844,416	I314N	probably damaging	Het
Cavin2	T	A	1: 51,301,171	S336T	probably benign	Het
Cdc14b	A	T	13: 64,225,602	I119N	possibly damaging	Het
Cemip	T	A	7: 83,964,038	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,595,940	D522V	probably damaging	Het
Clrn3	A	T	7: 135,518,578	V93D	probably damaging	Het
Cyp4f39	A	G	17: 32,482,202	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,616,109	V314A	probably benign	Het
Dchs1	C	T	7: 105,754,921	V2805I	probably benign	Het
Dsp	A	T	13: 38,193,374	K1712*	probably null	Het
Emilin2	T	C	17: 71,274,090	D547G	probably benign	Het
Erbb3	T	C	10: 128,583,248	H248R	probably benign	Het
Erich3	A	G	3: 154,762,623		probably benign	Het
Fam213b	C	T	4: 154,897,063	V186I	probably benign	Het
Fbn1	T	C	2: 125,309,781	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,605,881	V384M	probably damaging	Het
Gm14085	T	C	2: 122,521,859	S366P	probably damaging	Het
Gpc5	T	A	14: 115,370,098	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,839,155	K145R	probably null	Het
Hectd1	G	T	12: 51,744,788	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 25,954,605		probably null	Het
Hirip3	T	C	7: 126,863,475		probably null	Het
Ispd	T	C	12: 36,476,721	C170R	probably benign	Het
Itpkc	T	C	7: 27,208,281	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,224,809	D693E	probably benign	Het
Katnbl1	T	C	2: 112,406,109	L60P	probably damaging	Het
Kcna1	T	A	6: 126,642,682	E225V	probably damaging	Het
Kcnj6	T	A	16: 94,832,584	M223L	probably damaging	Het
Kcnk7	G	T	19: 5,706,978	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Mdga2	C	A	12: 66,568,772	G618V	probably damaging	Het
Mdga2	C	A	12: 66,568,773	G618*	probably null	Het
Morc2b	T	C	17: 33,135,981	E939G	possibly damaging	Het
Mstn	T	A	1: 53,062,065	D100E	probably benign	Het
Mthfd1l	G	A	10: 4,083,877		probably null	Het
Muc20	T	A	16: 32,794,279	T243S	probably damaging	Het
Myo1d	A	T	11: 80,684,421	N156K	probably damaging	Het
Myo7a	A	G	7: 98,099,472		probably null	Het
Naa35	A	T	13: 59,612,676	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,557,172	T329I	probably damaging	Het
Nisch	T	C	14: 31,180,902		probably benign	Het
Nlrp1b	A	T	11: 71,182,811	W69R	probably benign	Het
Nrap	T	A	19: 56,335,255	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,047,213	R56*	probably null	Het
Nudt1	A	G	5: 140,334,623		probably null	Het
Nxph4	T	G	10: 127,526,208	K271N	probably damaging	Het
Olfr1196	T	G	2: 88,701,317	H4P	probably benign	Het
Olfr243	T	C	7: 103,717,112	W173R	probably benign	Het
Olfr366	A	T	2: 37,219,641	R51*	probably null	Het
Olfr78	T	A	7: 102,742,398	I202F	probably damaging	Het
Otud6b	T	A	4: 14,825,617	N71I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,752	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,777,452	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,533,488	D51A	probably damaging	Het
Prag1	C	A	8: 36,102,898	P212T	probably damaging	Het
Ptdss1	A	G	13: 66,933,637	T44A	probably damaging	Het
Rab14	T	C	2: 35,186,723	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,761,182	G101E	probably benign	Het
Rimbp3	T	A	16: 17,211,113	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Selenbp1	A	G	3: 94,944,543	D465G	probably damaging	Het
Slc29a1	T	C	17: 45,589,010	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,247,666	V604F	probably benign	Het
Sltm	T	A	9: 70,573,647	D260E	probably damaging	Het
Spta1	G	A	1: 174,179,839	V212M	probably damaging	Het
St6gal2	T	C	17: 55,496,395		probably null	Het
Tc2n	A	G	12: 101,688,992	S235P	probably damaging	Het
Tenm3	T	A	8: 48,417,119	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,560,610	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,742,907		probably null	Het
Tyk2	G	A	9: 21,115,249	Q684*	probably null	Het
Ubqln1	A	G	13: 58,179,391	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,574,918	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,200,012	V372A	probably damaging	Het
Unc5c	G	A	3: 141,757,837	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,728,585	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 64,090,182	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,611,922	T727S	probably benign	Het
Vmn2r79	A	G	7: 87,002,631	T413A	probably benign	Het
Vps13c	T	C	9: 67,926,962	V1637A	probably benign	Het
Xpc	A	G	6: 91,492,947	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,447,347		probably null	Het
Zfp712	A	T	13: 67,052,336	D28E	probably benign	Het
Zfp735	A	G	11: 73,711,475	N415S	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
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'- TTCTACGGAGATGGCGAGAAACAAC -3'
(R):5'- TACACTGAGCTGCCATGAACAGGAC -3'

Sequencing Primer
(F):5'- AAAGGGGGTTCTGTCCCTTG -3'
(R):5'- CTGCCATGAACAGGACAGATAG -3'

Posted On

2014-05-09