Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Parp10'

158330

Institutional Source

Beutler Lab

Gene Symbol

Parp10

Ensembl Gene

ENSMUSG00000063268

Gene Name

poly (ADP-ribose) polymerase family, member 10

Synonyms

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

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

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76117195-76127640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76126190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 333 (D333Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023225] [ENSMUST00000075689] [ENSMUST00000165738] [ENSMUST00000229380] [ENSMUST00000229772] [ENSMUST00000230347]

AlphaFold

Q8CIE4

Predicted Effect

probably benign
Transcript: ENSMUST00000023225

SMART Domains

Protein: ENSMUSP00000023225
Gene: ENSMUSG00000022564

Domain	Start	End	E-Value	Type
low complexity region	27	101	N/A	INTRINSIC
Pfam:Bax1-I	133	340	6.9e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075689
AA Change: D333Y

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: D333Y

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

possibly damaging
Transcript: ENSMUST00000165738
AA Change: D333Y

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: D333Y

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: ENSMUST00000229380

Predicted Effect

probably benign
Transcript: ENSMUST00000229772

Predicted Effect

probably benign
Transcript: ENSMUST00000230347

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,967 (GRCm39)	I2535T	probably damaging	Het
Adam34l	A	T	8: 44,079,881 (GRCm39)	Y114*	probably null	Het
Ank3	A	G	10: 69,840,495 (GRCm39)	I952V	probably benign	Het
Ankar	A	C	1: 72,682,323 (GRCm39)	V1414G	probably benign	Het
Arl2	A	G	19: 6,191,103 (GRCm39)	M10T	probably benign	Het
Arpp21	A	G	9: 111,972,442 (GRCm39)	I352T	probably damaging	Het
Cacna1e	T	A	1: 154,274,419 (GRCm39)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,703,691 (GRCm39)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,552 (GRCm39)	V337A	probably benign	Het
Cpn2	T	A	16: 30,078,481 (GRCm39)	T407S	probably benign	Het
Cpne4	T	C	9: 104,870,333 (GRCm39)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,840,189 (GRCm39)		probably null	Het
Cspg4b	T	C	13: 113,502,694 (GRCm39)	F133S	probably damaging	Het
Dennd5a	A	T	7: 109,518,614 (GRCm39)	I485N	probably benign	Het
Dnah6	T	C	6: 73,101,692 (GRCm39)	Q1892R	probably benign	Het
Dse	G	A	10: 34,028,411 (GRCm39)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,465,206 (GRCm39)	S466A	probably benign	Het
Dstyk	T	C	1: 132,377,651 (GRCm39)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,294,464 (GRCm39)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,821,426 (GRCm39)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 73,145,746 (GRCm39)	D162E	probably damaging	Het
Fstl4	C	A	11: 52,959,454 (GRCm39)	T165N	probably benign	Het
Gm8674	T	C	13: 50,055,758 (GRCm39)		noncoding transcript	Het
Gtsf2	T	A	15: 103,352,780 (GRCm39)	L39F	possibly damaging	Het
Hck	A	C	2: 152,976,067 (GRCm39)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,298,903 (GRCm39)		probably null	Het
Irf4	T	C	13: 30,941,568 (GRCm39)	L307P	probably damaging	Het
Keg1	G	A	19: 12,696,368 (GRCm39)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,610,452 (GRCm39)	D218G	probably damaging	Het
Map1b	T	C	13: 99,569,029 (GRCm39)	K1231E	unknown	Het
Mapkbp1	T	C	2: 119,844,136 (GRCm39)	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,778,333 (GRCm39)	D310E	probably benign	Het
Mmp9	A	T	2: 164,790,876 (GRCm39)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,370,666 (GRCm39)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,209,065 (GRCm39)	I110F	probably damaging	Het
Neu1	A	T	17: 35,153,314 (GRCm39)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,284,209 (GRCm39)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,446,594 (GRCm39)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,177,859 (GRCm39)	D517A	probably damaging	Het
Or14c43	T	C	7: 86,114,951 (GRCm39)	F111L	probably benign	Het
Or1e32	T	C	11: 73,705,072 (GRCm39)	T279A	probably benign	Het
Or2z2	T	C	11: 58,346,667 (GRCm39)	Y36C	probably damaging	Het
Or52e3	G	A	7: 102,869,324 (GRCm39)	R133Q	probably benign	Het
P3h2	C	A	16: 25,815,986 (GRCm39)	E176*	probably null	Het
Pcdhb12	C	T	18: 37,570,450 (GRCm39)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,159,611 (GRCm39)	T818S	possibly damaging	Het
Phf11	A	T	14: 59,488,563 (GRCm39)	V78D	probably damaging	Het
Phip	A	T	9: 82,758,800 (GRCm39)	L1450Q	probably benign	Het
Pinx1	A	G	14: 64,156,859 (GRCm39)	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,706,014 (GRCm39)	E19G	probably damaging	Het
Pum1	T	C	4: 130,493,272 (GRCm39)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,908 (GRCm39)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,754,550 (GRCm39)	D327G	probably benign	Het
Syt1	A	T	10: 108,467,682 (GRCm39)	V205D	possibly damaging	Het
Tep1	C	T	14: 51,064,512 (GRCm39)		probably null	Het
Thnsl2	T	A	6: 71,111,175 (GRCm39)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,524,763 (GRCm39)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,534,304 (GRCm39)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,002,704 (GRCm39)	E506G	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
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
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'- TCCTTCAAGTGGGAAAAGGGCAAC -3'
(R):5'- TTGGTCATGCGCCTACAGGAAC -3'

Sequencing Primer
(F):5'- AGGGCAACATCTTCTAGGCTG -3'
(R):5'- CGCCTACAGGAACTGGAG -3'

Posted On

2014-02-18