Mutagenetix > Incidental Mutation

Incidental Mutation 'R8678:Parp10'

661539

Institutional Source

Beutler Lab

Gene Symbol

Parp10

Ensembl Gene

ENSMUSG00000063268

Gene Name

poly (ADP-ribose) polymerase family, member 10

Synonyms

MMRRC Submission

068533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76117195-76127640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76117599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 929 (C929F)

Ref Sequence

ENSEMBL: ENSMUSP00000075110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074834] [ENSMUST00000075689] [ENSMUST00000089610] [ENSMUST00000165738] [ENSMUST00000166428] [ENSMUST00000167754]

AlphaFold

Q8CIE4

Predicted Effect

probably benign
Transcript: ENSMUST00000074834

SMART Domains

Protein: ENSMUSP00000074383
Gene: ENSMUSG00000022565

Domain	Start	End	E-Value	Type
CH	35	134	4.57e-28	SMART
CH	151	249	3.52e-20	SMART
internal_repeat_2	284	366	1.19e-5	PROSPERO
internal_repeat_2	360	442	1.19e-5	PROSPERO
SPEC	507	604	3.08e-5	SMART
SPEC	607	707	1.29e-7	SMART
SPEC	713	875	3.01e0	SMART
low complexity region	954	968	N/A	INTRINSIC
SPEC	971	1077	3.48e0	SMART
SPEC	1080	1191	7.63e-1	SMART
SPEC	1198	1358	2.59e-1	SMART
low complexity region	1362	1402	N/A	INTRINSIC
low complexity region	1429	1446	N/A	INTRINSIC
low complexity region	1459	1490	N/A	INTRINSIC
low complexity region	1501	1550	N/A	INTRINSIC
low complexity region	1592	1621	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
low complexity region	1709	1730	N/A	INTRINSIC
low complexity region	1757	1821	N/A	INTRINSIC
low complexity region	1837	1862	N/A	INTRINSIC
low complexity region	1923	1937	N/A	INTRINSIC
low complexity region	1951	1977	N/A	INTRINSIC
low complexity region	2007	2041	N/A	INTRINSIC
low complexity region	2047	2061	N/A	INTRINSIC
low complexity region	2068	2096	N/A	INTRINSIC
low complexity region	2105	2154	N/A	INTRINSIC
low complexity region	2171	2186	N/A	INTRINSIC
low complexity region	2274	2290	N/A	INTRINSIC
low complexity region	2313	2331	N/A	INTRINSIC
low complexity region	2382	2395	N/A	INTRINSIC
low complexity region	2433	2463	N/A	INTRINSIC
low complexity region	2516	2537	N/A	INTRINSIC
low complexity region	2541	2556	N/A	INTRINSIC
low complexity region	2558	2599	N/A	INTRINSIC
PLEC	2638	2675	2.99e1	SMART
PLEC	2676	2713	4.49e-7	SMART
PLEC	2714	2751	4.49e-7	SMART
PLEC	2752	2789	3.54e-5	SMART
PLEC	2790	2827	3.27e-9	SMART
PLEC	2831	2865	6.31e-2	SMART
low complexity region	2936	2954	N/A	INTRINSIC
PLEC	2966	3003	3.84e0	SMART
PLEC	3004	3041	1.59e-7	SMART
PLEC	3042	3079	3.54e-5	SMART
PLEC	3080	3117	8.64e-9	SMART
PLEC	3118	3155	1.53e-9	SMART
PLEC	3158	3193	2.18e2	SMART
low complexity region	3265	3284	N/A	INTRINSIC
PLEC	3335	3372	3.22e-8	SMART
PLEC	3373	3410	7.82e-7	SMART
PLEC	3411	3448	1.9e-5	SMART
PLEC	3449	3486	7.01e-9	SMART
PLEC	3490	3524	3.38e-2	SMART
low complexity region	3536	3557	N/A	INTRINSIC
low complexity region	3563	3573	N/A	INTRINSIC
low complexity region	3606	3619	N/A	INTRINSIC
PLEC	3670	3707	1.22e-8	SMART
PLEC	3708	3745	1.26e-10	SMART
PLEC	3746	3783	2.24e-7	SMART
PLEC	3784	3821	1.82e-7	SMART
PLEC	3825	3858	5.49e1	SMART
PLEC	3862	3895	3.2e2	SMART
PLEC	3913	3950	8.77e-10	SMART
PLEC	3951	3988	4.13e-6	SMART
PLEC	3989	4026	3.03e-4	SMART
PLEC	4027	4064	4.77e-11	SMART
PLEC	4068	4102	1.28e-2	SMART
PLEC	4115	4155	1.05e-7	SMART
low complexity region	4157	4167	N/A	INTRINSIC
PLEC	4169	4206	1.73e1	SMART
low complexity region	4232	4247	N/A	INTRINSIC
PLEC	4258	4295	3.65e-7	SMART
PLEC	4296	4333	9.99e-14	SMART
PLEC	4334	4371	4.71e-1	SMART
PLEC	4372	4409	2.44e-8	SMART
PLEC	4410	4447	2.87e-5	SMART
low complexity region	4457	4492	N/A	INTRINSIC
low complexity region	4495	4521	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075689
AA Change: C929F

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

SMART Domains

Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: C929F

Domain	Start	End	E-Value	Type
Blast:RRM_2	9	72	1e-13	BLAST
PDB:2DHX\|A	9	98	1e-30	PDB
low complexity region	183	193	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	566	575	N/A	INTRINSIC
low complexity region	579	593	N/A	INTRINSIC
UIM	605	624	9.27e1	SMART
UIM	628	647	1.88e1	SMART
low complexity region	728	738	N/A	INTRINSIC
Pfam:PARP	766	954	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089610

SMART Domains

Protein: ENSMUSP00000087037
Gene: ENSMUSG00000022565

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
low complexity region	40	54	N/A	INTRINSIC
CH	73	189	1.46e-26	SMART
CH	206	304	3.52e-20	SMART
internal_repeat_2	339	421	1.38e-5	PROSPERO
internal_repeat_2	415	497	1.38e-5	PROSPERO
SPEC	562	659	3.08e-5	SMART
SPEC	662	762	1.29e-7	SMART
SPEC	768	930	3.01e0	SMART
low complexity region	1009	1023	N/A	INTRINSIC
SPEC	1026	1132	3.48e0	SMART
SPEC	1135	1246	7.63e-1	SMART
SPEC	1253	1413	2.59e-1	SMART
low complexity region	1417	1457	N/A	INTRINSIC
low complexity region	1484	1501	N/A	INTRINSIC
low complexity region	1514	1545	N/A	INTRINSIC
low complexity region	1556	1605	N/A	INTRINSIC
low complexity region	1647	1676	N/A	INTRINSIC
low complexity region	1701	1726	N/A	INTRINSIC
low complexity region	1764	1785	N/A	INTRINSIC
low complexity region	1812	1876	N/A	INTRINSIC
low complexity region	1892	1917	N/A	INTRINSIC
low complexity region	1978	1992	N/A	INTRINSIC
low complexity region	2006	2032	N/A	INTRINSIC
low complexity region	2062	2096	N/A	INTRINSIC
low complexity region	2102	2116	N/A	INTRINSIC
low complexity region	2123	2151	N/A	INTRINSIC
low complexity region	2160	2209	N/A	INTRINSIC
low complexity region	2226	2241	N/A	INTRINSIC
low complexity region	2329	2345	N/A	INTRINSIC
low complexity region	2368	2386	N/A	INTRINSIC
low complexity region	2437	2450	N/A	INTRINSIC
low complexity region	2488	2518	N/A	INTRINSIC
low complexity region	2571	2592	N/A	INTRINSIC
low complexity region	2596	2611	N/A	INTRINSIC
low complexity region	2613	2654	N/A	INTRINSIC
PLEC	2693	2730	2.99e1	SMART
PLEC	2731	2768	4.49e-7	SMART
PLEC	2769	2806	4.49e-7	SMART
PLEC	2807	2844	3.54e-5	SMART
PLEC	2845	2882	3.27e-9	SMART
PLEC	2886	2920	6.31e-2	SMART
low complexity region	2991	3009	N/A	INTRINSIC
PLEC	3021	3058	3.84e0	SMART
PLEC	3059	3096	1.59e-7	SMART
PLEC	3097	3134	3.54e-5	SMART
PLEC	3135	3172	8.64e-9	SMART
PLEC	3173	3210	1.53e-9	SMART
PLEC	3213	3248	2.18e2	SMART
low complexity region	3320	3339	N/A	INTRINSIC
PLEC	3390	3427	3.22e-8	SMART
PLEC	3428	3465	7.82e-7	SMART
PLEC	3466	3503	1.9e-5	SMART
PLEC	3504	3541	7.01e-9	SMART
PLEC	3545	3579	3.38e-2	SMART
low complexity region	3591	3612	N/A	INTRINSIC
low complexity region	3618	3628	N/A	INTRINSIC
low complexity region	3661	3674	N/A	INTRINSIC
PLEC	3725	3762	1.22e-8	SMART
PLEC	3763	3800	1.26e-10	SMART
PLEC	3801	3838	2.24e-7	SMART
PLEC	3839	3876	1.82e-7	SMART
PLEC	3880	3913	5.49e1	SMART
PLEC	3917	3950	3.2e2	SMART
PLEC	3968	4005	8.77e-10	SMART
PLEC	4006	4043	4.13e-6	SMART
PLEC	4044	4081	3.03e-4	SMART
PLEC	4082	4119	4.77e-11	SMART
PLEC	4123	4157	1.28e-2	SMART
PLEC	4170	4210	1.05e-7	SMART
low complexity region	4212	4222	N/A	INTRINSIC
PLEC	4224	4261	1.73e1	SMART
low complexity region	4287	4302	N/A	INTRINSIC
PLEC	4313	4350	3.65e-7	SMART
PLEC	4351	4388	9.99e-14	SMART
PLEC	4389	4426	4.71e-1	SMART
PLEC	4427	4464	2.44e-8	SMART
PLEC	4465	4502	2.87e-5	SMART
low complexity region	4512	4547	N/A	INTRINSIC
low complexity region	4550	4576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165738
AA Change: C929F

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

SMART Domains

Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: C929F

Domain	Start	End	E-Value	Type
Blast:RRM_2	9	72	1e-13	BLAST
PDB:2DHX\|A	9	98	1e-30	PDB
low complexity region	183	193	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	566	575	N/A	INTRINSIC
low complexity region	579	593	N/A	INTRINSIC
UIM	605	624	9.27e1	SMART
UIM	628	647	1.88e1	SMART
low complexity region	728	738	N/A	INTRINSIC
Pfam:PARP	766	954	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166428

SMART Domains

Protein: ENSMUSP00000130915
Gene: ENSMUSG00000022565

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
low complexity region	40	54	N/A	INTRINSIC
CH	73	189	1.46e-26	SMART
CH	206	304	3.52e-20	SMART
PDB:2ODU\|A	318	549	1e-154	PDB
Blast:SPEC	328	431	3e-63	BLAST
SPEC	562	659	3.08e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167754

SMART Domains

Protein: ENSMUSP00000127867
Gene: ENSMUSG00000022565

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
low complexity region	40	54	N/A	INTRINSIC
CH	73	189	1.46e-26	SMART
CH	206	304	3.52e-20	SMART
PDB:2ODU\|A	318	549	1e-154	PDB
Blast:SPEC	328	431	3e-63	BLAST
SPEC	562	659	3.08e-5	SMART
low complexity region	677	682	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000131370
Gene: ENSMUSG00000063268
AA Change: C78F

Domain	Start	End	E-Value	Type
Pfam:PARP	1	104	6.1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	T	16: 20,184,685 (GRCm39)	M991I	probably benign	Het
Acacb	T	A	5: 114,340,032 (GRCm39)	Y814*	probably null	Het
Alg2	A	G	4: 47,474,108 (GRCm39)	F60S	probably damaging	Het
Aoc1l1	C	T	6: 48,953,158 (GRCm39)	T361I	possibly damaging	Het
Arc	A	G	15: 74,543,539 (GRCm39)	L228P	probably damaging	Het
Bnip1	T	A	17: 27,008,923 (GRCm39)		probably benign	Het
Cacng4	A	G	11: 107,625,925 (GRCm39)	L222P	probably damaging	Het
Calb2	A	T	8: 110,874,275 (GRCm39)	V182E	possibly damaging	Het
Cfap44	A	T	16: 44,295,636 (GRCm39)	I1645F	probably damaging	Het
Col6a5	T	C	9: 105,811,551 (GRCm39)	D656G	unknown	Het
Csmd3	A	G	15: 47,499,849 (GRCm39)	S2096P		Het
Cyp2c70	A	T	19: 40,156,016 (GRCm39)	I178N	probably damaging	Het
Dmxl1	C	T	18: 50,004,759 (GRCm39)	Q936*	probably null	Het
Dnaaf3	A	T	7: 4,533,814 (GRCm39)	F94Y	probably damaging	Het
Eid2b	C	T	7: 27,977,480 (GRCm39)	T92I	possibly damaging	Het
Ercc8	T	C	13: 108,306,027 (GRCm39)		probably null	Het
Fank1	G	A	7: 133,463,957 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,312,376 (GRCm39)	E324*	probably null	Het
Fcnb	A	G	2: 27,968,361 (GRCm39)	F199L	possibly damaging	Het
Galnt16	A	G	12: 80,630,822 (GRCm39)	D300G	probably damaging	Het
Gli1	T	C	10: 127,173,260 (GRCm39)	S133G	probably null	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,666 (GRCm39)	D412G	probably benign	Het
Klhl20	A	T	1: 160,936,997 (GRCm39)	I126N	probably damaging	Het
Lama1	A	G	17: 68,124,098 (GRCm39)	E2841G		Het
Lmtk3	T	A	7: 45,435,975 (GRCm39)	C85*	probably null	Het
Madd	T	C	2: 91,006,610 (GRCm39)	Y328C	probably damaging	Het
Map1a	G	T	2: 121,137,737 (GRCm39)	R2851L	probably damaging	Het
Mctp2	T	C	7: 71,752,955 (GRCm39)	D766G	probably damaging	Het
Mei4	T	A	9: 81,809,638 (GRCm39)	F240L	probably damaging	Het
Mgat3	A	T	15: 80,096,472 (GRCm39)	Y433F	possibly damaging	Het
Muc20	T	A	16: 32,617,789 (GRCm39)		probably benign	Het
Nat8f1	A	G	6: 85,887,738 (GRCm39)	V74A	probably benign	Het
Nfe2l3	A	G	6: 51,435,153 (GRCm39)	D571G	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nphs1	T	C	7: 30,163,284 (GRCm39)	L480S	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or2ag2	A	G	7: 106,485,280 (GRCm39)	V248A	probably damaging	Het
Or4c122	T	A	2: 89,079,351 (GRCm39)	Y217F	probably damaging	Het
Or8j3b	C	T	2: 86,205,069 (GRCm39)	R229H	probably benign	Het
Pcdhb21	A	G	18: 37,647,939 (GRCm39)	E356G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,623,468 (GRCm39)	R600*	probably null	Het
Ppp1r13l	C	A	7: 19,109,697 (GRCm39)	T706K	probably benign	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Ppp1r16b	G	A	2: 158,598,942 (GRCm39)	R334Q	probably damaging	Het
Ppp1r7	A	G	1: 93,280,364 (GRCm39)	Q188R	probably benign	Het
Pramel26	C	A	4: 143,538,576 (GRCm39)	A132S	probably benign	Het
Prkdc	G	T	16: 15,526,796 (GRCm39)		probably null	Het
Prss33	T	C	17: 24,053,723 (GRCm39)	D118G	probably benign	Het
Rab3gap2	T	G	1: 184,983,281 (GRCm39)	I473M	probably damaging	Het
Rbm44	A	G	1: 91,080,103 (GRCm39)	E97G	probably damaging	Het
Ros1	A	G	10: 51,963,998 (GRCm39)	M1775T	probably benign	Het
Ryr1	T	A	7: 28,776,489 (GRCm39)	M2216L	probably damaging	Het
Scn7a	A	G	2: 66,574,041 (GRCm39)		probably benign	Het
Slc31a2	G	A	4: 62,210,896 (GRCm39)	V12M	probably benign	Het
Slc35b1	T	C	11: 95,278,646 (GRCm39)	Y177H	probably damaging	Het
Slfn9	T	A	11: 82,872,370 (GRCm39)	M789L	probably benign	Het
Srf	A	G	17: 46,861,825 (GRCm39)		probably null	Het
Tank	A	G	2: 61,457,287 (GRCm39)	E81G	probably damaging	Het
Tia1	T	A	6: 86,402,685 (GRCm39)	M241K	probably benign	Het
Tiam1	G	T	16: 89,681,709 (GRCm39)	S423*	probably null	Het
Tubg1	T	G	11: 101,015,264 (GRCm39)	S237A	probably benign	Het
Ubash3b	G	A	9: 40,942,785 (GRCm39)	P358S	probably benign	Het
Vmn2r3	T	C	3: 64,166,896 (GRCm39)	E745G	possibly damaging	Het
Vmn2r4	T	A	3: 64,314,391 (GRCm39)	I197F	probably benign	Het
Vps37d	C	A	5: 135,105,386 (GRCm39)	R79L	probably damaging	Het
Wdr7	T	A	18: 63,910,768 (GRCm39)	L720Q	probably damaging	Het
Xkr5	T	C	8: 18,984,048 (GRCm39)	N498S	probably benign	Het
Zc2hc1c	A	T	12: 85,337,084 (GRCm39)	E247V	probably benign	Het

Other mutations in Parp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Parp10	APN	15	76,125,877 (GRCm39)	missense	probably benign	0.09
IGL01419:Parp10	APN	15	76,125,588 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Parp10	UTSW	15	76,125,122 (GRCm39)	missense	probably benign	0.00
R0053:Parp10	UTSW	15	76,126,446 (GRCm39)	missense	probably damaging	1.00
R0053:Parp10	UTSW	15	76,126,446 (GRCm39)	missense	probably damaging	1.00
R0126:Parp10	UTSW	15	76,127,266 (GRCm39)	missense	probably damaging	0.98
R0207:Parp10	UTSW	15	76,126,833 (GRCm39)	missense	probably benign	0.00
R1300:Parp10	UTSW	15	76,126,190 (GRCm39)	missense	possibly damaging	0.93
R1412:Parp10	UTSW	15	76,127,284 (GRCm39)	missense	probably damaging	0.99
R1510:Parp10	UTSW	15	76,125,617 (GRCm39)	missense	probably damaging	1.00
R1670:Parp10	UTSW	15	76,126,270 (GRCm39)	missense	probably benign	0.01
R1875:Parp10	UTSW	15	76,127,051 (GRCm39)	missense	probably damaging	1.00
R2219:Parp10	UTSW	15	76,117,783 (GRCm39)	missense	probably damaging	1.00
R2351:Parp10	UTSW	15	76,127,056 (GRCm39)	missense	probably benign
R4027:Parp10	UTSW	15	76,125,354 (GRCm39)	critical splice donor site	probably null
R4659:Parp10	UTSW	15	76,127,185 (GRCm39)	missense	probably damaging	1.00
R4763:Parp10	UTSW	15	76,117,627 (GRCm39)	missense	probably damaging	0.99
R4828:Parp10	UTSW	15	76,127,281 (GRCm39)	missense	probably benign	0.00
R5066:Parp10	UTSW	15	76,125,146 (GRCm39)	splice site	probably benign
R5090:Parp10	UTSW	15	76,125,925 (GRCm39)	missense	probably damaging	0.97
R5495:Parp10	UTSW	15	76,127,366 (GRCm39)	missense	probably benign
R6271:Parp10	UTSW	15	76,126,202 (GRCm39)	missense	probably benign
R6335:Parp10	UTSW	15	76,126,388 (GRCm39)	missense	probably benign	0.00
R6503:Parp10	UTSW	15	76,126,684 (GRCm39)	missense	probably damaging	1.00
R6606:Parp10	UTSW	15	76,124,308 (GRCm39)	missense	possibly damaging	0.66
R6868:Parp10	UTSW	15	76,127,306 (GRCm39)	missense	probably damaging	1.00
R7197:Parp10	UTSW	15	76,126,616 (GRCm39)	missense	probably damaging	1.00
R8496:Parp10	UTSW	15	76,117,749 (GRCm39)	missense	probably damaging	1.00
R9053:Parp10	UTSW	15	76,125,964 (GRCm39)	missense	possibly damaging	0.95
X0027:Parp10	UTSW	15	76,125,704 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGACACTTAAGGACTTTGTAG -3'
(R):5'- TGTAGGCACACTCTACGGAC -3'

Sequencing Primer
(F):5'- TGACACTTAAGGACTTTGTAGAGCAG -3'
(R):5'- TACGGACAGGGCGTGTACTTC -3'

Posted On

2021-03-08