Mutagenetix > Incidental Mutation

Incidental Mutation 'R4763:Parp10'

357061

Institutional Source

Beutler Lab

Gene Symbol

Parp10

Ensembl Gene

ENSMUSG00000063268

Gene Name

poly (ADP-ribose) polymerase family, member 10

Synonyms

MMRRC Submission

042404-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76117195-76127640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76117627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 920 (V920M)

Ref Sequence

ENSEMBL: ENSMUSP00000129765 (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: V920M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: V920M

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

noncoding transcript
Transcript: ENSMUST00000165135

Predicted Effect

probably damaging
Transcript: ENSMUST00000165738
AA Change: V920M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: V920M

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

noncoding transcript
Transcript: ENSMUST00000166151

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

noncoding transcript
Transcript: ENSMUST00000169255

Predicted Effect

unknown
Transcript: ENSMUST00000170226
AA Change: V69M

SMART Domains

Protein: ENSMUSP00000131370
Gene: ENSMUSG00000063268
AA Change: V69M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170851

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

Meta Mutation Damage Score

0.3544

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (73/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	G	9: 98,069,176 (GRCm39)		noncoding transcript	Het
Abhd2	A	G	7: 79,009,879 (GRCm39)	E418G	probably benign	Het
Acox2	G	T	14: 8,241,334 (GRCm38)	H593N	possibly damaging	Het
Adam17	A	G	12: 21,384,016 (GRCm39)	Y495H	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arhgap44	A	G	11: 64,929,991 (GRCm39)	I240T	probably damaging	Het
Atp2c1	T	C	9: 105,295,766 (GRCm39)	T653A	probably damaging	Het
Atxn7l1	G	A	12: 33,408,877 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,463,508 (GRCm39)	V220A	probably damaging	Het
Card14	A	T	11: 119,234,001 (GRCm39)	S864C	probably damaging	Het
Cfap58	C	T	19: 47,971,945 (GRCm39)	A625V	probably damaging	Het
Cfap61	T	C	2: 145,859,287 (GRCm39)	V425A	probably benign	Het
Cfap73	A	G	5: 120,768,294 (GRCm39)	F155L	probably damaging	Het
Cntrl	G	T	2: 35,065,563 (GRCm39)	R2235L	probably damaging	Het
Cxxc1	A	G	18: 74,352,484 (GRCm39)	K355E	probably damaging	Het
Disc1	G	A	8: 125,851,277 (GRCm39)	G387D	probably damaging	Het
Dpf2	T	C	19: 5,952,480 (GRCm39)	Y286C	probably damaging	Het
E2f7	A	T	10: 110,616,710 (GRCm39)	K650M	probably damaging	Het
Fbln2	C	T	6: 91,246,982 (GRCm39)	S1027F	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm6811	A	G	17: 21,314,109 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,284,818 (GRCm39)	K409E	probably damaging	Het
Hamp	T	A	7: 30,641,989 (GRCm39)	R55S	probably damaging	Het
Heatr1	C	T	13: 12,445,811 (GRCm39)	T1596I	possibly damaging	Het
Hells	T	C	19: 38,945,643 (GRCm39)	V601A	probably damaging	Het
Ighv5-8	A	G	12: 113,617,161 (GRCm39)	S34P	probably damaging	Het
Lig4	T	C	8: 10,022,955 (GRCm39)	D275G	probably damaging	Het
Meak7	A	G	8: 120,495,122 (GRCm39)	V212A	probably benign	Het
Med6	T	C	12: 81,629,435 (GRCm39)	D59G	probably damaging	Het
Men1	T	C	19: 6,385,102 (GRCm39)		probably null	Het
Mlec	G	A	5: 115,295,972 (GRCm39)	A41V	unknown	Het
Ncoa1	G	A	12: 4,325,297 (GRCm39)	T927I	probably damaging	Het
Neb	T	A	2: 52,127,052 (GRCm39)	K378*	probably null	Het
Neb	T	A	2: 52,216,732 (GRCm39)	K148*	probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or4k41	T	A	2: 111,280,023 (GRCm39)	C179*	probably null	Het
Or5p73	G	A	7: 108,065,393 (GRCm39)	M287I	probably benign	Het
Or8g26	A	G	9: 39,096,256 (GRCm39)	T261A	probably benign	Het
Parp6	C	A	9: 59,538,648 (GRCm39)	P241H	probably damaging	Het
Pcyox1l	A	G	18: 61,830,850 (GRCm39)	Y341H	probably benign	Het
Pfas	A	T	11: 68,881,020 (GRCm39)	D1080E	possibly damaging	Het
Pi4kb	G	T	3: 94,911,720 (GRCm39)		probably benign	Het
Piwil2	C	T	14: 70,614,227 (GRCm39)	V846M	probably damaging	Het
Pkd1l2	A	G	8: 117,746,168 (GRCm39)	F1941L	probably damaging	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Ppp4r1	T	C	17: 66,142,105 (GRCm39)	I720T	possibly damaging	Het
Prr12	A	G	7: 44,697,119 (GRCm39)	L932S	unknown	Het
Rnaseh2a	T	A	8: 85,692,021 (GRCm39)	E84V	probably benign	Het
Rpl18a	G	A	8: 71,348,330 (GRCm39)	R118C	probably benign	Het
Rprm	C	A	2: 53,975,228 (GRCm39)	C30F	possibly damaging	Het
Sbf2	G	T	7: 110,020,124 (GRCm39)	L579I	probably damaging	Het
Sfn	C	A	4: 133,328,656 (GRCm39)	R142L	probably benign	Het
St8sia6	T	C	2: 13,677,341 (GRCm39)	K159E	probably damaging	Het
Sugct	A	T	13: 17,837,372 (GRCm39)	F86L	probably damaging	Het
Tmcc3	T	C	10: 94,415,173 (GRCm39)	S292P	probably damaging	Het
Tmem33	A	T	5: 67,443,479 (GRCm39)	I219F	probably benign	Het
Trav8-1	C	A	14: 53,707,492 (GRCm39)	T44K	possibly damaging	Het
U2surp	A	G	9: 95,393,844 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,819,952 (GRCm39)	L25P	probably damaging	Het
Vmn1r221	G	T	13: 23,401,958 (GRCm39)		noncoding transcript	Het
Vmn1r50	C	T	6: 90,085,062 (GRCm39)	T269I	probably benign	Het
Washc3	A	G	10: 88,055,185 (GRCm39)	D125G	probably damaging	Het
Zfp142	G	A	1: 74,615,671 (GRCm39)	H278Y	probably damaging	Het
Zfp418	A	G	7: 7,184,444 (GRCm39)	N136D	possibly damaging	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
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
R8678:Parp10	UTSW	15	76,117,599 (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'- GCCTCTTAGGTCAAATGTCCAGG -3'
(R):5'- GAAGACCCTCACCTTGGTGATTG -3'

Sequencing Primer
(F):5'- TCAAATGTCCAGGAAAGAGATCC -3'
(R):5'- TGTAGGCACACTCTACGGACAG -3'

Posted On

2015-11-11