Mutagenetix > Incidental Mutation

Incidental Mutation 'R5117:Parp9'

392710

Institutional Source

Beutler Lab

Gene Symbol

Parp9

Ensembl Gene

ENSMUSG00000022906

Gene Name

poly (ADP-ribose) polymerase family, member 9

Synonyms

MMRRC Submission

042705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R5117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35759360-35792975 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 35792202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000114877] [ENSMUST00000114878]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023622

SMART Domains

Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906

Domain	Start	End	E-Value	Type
Pfam:Macro	74	182	1.5e-16	PFAM
PDB:3HKV\|B	386	559	3e-9	PDB
SCOP:d1a26_2	403	521	1e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114877

SMART Domains

Protein: ENSMUSP00000110527
Gene: ENSMUSG00000022906

Domain	Start	End	E-Value	Type
A1pp	121	257	6.75e-33	SMART
A1pp	325	451	9.37e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114878

SMART Domains

Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906

Domain	Start	End	E-Value	Type
A1pp	85	221	6.75e-33	SMART
A1pp	289	415	9.37e-9	SMART
PDB:3HKV\|B	619	792	4e-8	PDB
SCOP:d1a26_2	636	754	1e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174085

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	A	9: 124,055,715 (GRCm39)	T403I	probably benign	Het
4921509C19Rik	T	C	2: 151,314,460 (GRCm39)	E406G	probably benign	Het
Abca8b	T	C	11: 109,857,629 (GRCm39)	E641G	probably damaging	Het
Agrn	T	C	4: 156,270,010 (GRCm39)	N49S	probably benign	Het
Cacna1b	A	G	2: 24,622,340 (GRCm39)	S215P	probably damaging	Het
Cacna1g	T	A	11: 94,323,329 (GRCm39)	I1292F	probably damaging	Het
Card14	T	A	11: 119,229,076 (GRCm39)	I662N	probably damaging	Het
Cep135	A	G	5: 76,779,276 (GRCm39)	K762R	probably benign	Het
Ces1b	A	G	8: 93,799,837 (GRCm39)		probably null	Het
Erich6	T	G	3: 58,530,626 (GRCm39)	I448L	probably benign	Het
Fads3	T	G	19: 10,019,322 (GRCm39)		probably null	Het
Fam234a	A	G	17: 26,432,512 (GRCm39)	F546L	probably benign	Het
Fbxl9	T	A	8: 106,039,492 (GRCm39)	R595*	probably null	Het
Gm10717	T	C	9: 3,025,625 (GRCm39)	L70S	probably benign	Het
Gm11787	G	T	4: 3,509,524 (GRCm39)		noncoding transcript	Het
Gm5519	A	G	19: 33,802,471 (GRCm39)	*171W	probably null	Het
Grid2	T	C	6: 63,233,917 (GRCm39)	I26T	probably benign	Het
Hmcn2	T	G	2: 31,348,061 (GRCm39)	C4902W	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,698 (GRCm39)	N106S	possibly damaging	Het
Il18	A	T	9: 50,492,809 (GRCm39)	N125I	possibly damaging	Het
Ints9	G	T	14: 65,230,540 (GRCm39)	E156*	probably null	Het
Kalrn	T	C	16: 33,853,971 (GRCm39)		probably null	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Lipo3	A	T	19: 33,536,952 (GRCm39)	M256K	probably benign	Het
Mapk6	C	A	9: 75,305,017 (GRCm39)	M133I	possibly damaging	Het
Med21	T	A	6: 146,548,781 (GRCm39)		probably benign	Het
Myrf	T	A	19: 10,189,857 (GRCm39)	E984V	probably damaging	Het
Naga	A	C	15: 82,221,657 (GRCm39)	M28R	probably damaging	Het
Nphp4	T	G	4: 152,608,689 (GRCm39)		probably null	Het
Nr1h4	T	C	10: 89,314,284 (GRCm39)	N295D	probably damaging	Het
Or10j27	T	C	1: 172,958,484 (GRCm39)	Q100R	possibly damaging	Het
Or13n4	A	T	7: 106,422,869 (GRCm39)	I288N	probably damaging	Het
Or55b3	T	C	7: 102,126,709 (GRCm39)	M123V	probably damaging	Het
Pax4	T	C	6: 28,446,278 (GRCm39)	I72V	probably benign	Het
Pcdh7	A	G	5: 57,879,090 (GRCm39)	I542V	probably benign	Het
Pcdhgb7	C	T	18: 37,885,939 (GRCm39)	R370W	probably damaging	Het
Pik3r1	G	A	13: 101,828,744 (GRCm39)	T18I	probably benign	Het
Ppara	A	G	15: 85,661,962 (GRCm39)	I68V	probably benign	Het
Ptch2	T	A	4: 116,963,146 (GRCm39)	I211N	probably damaging	Het
Senp6	G	A	9: 80,038,028 (GRCm39)	V715M	probably damaging	Het
Serf2	C	T	2: 121,281,184 (GRCm39)	P41L	possibly damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Serpinf2	T	C	11: 75,323,326 (GRCm39)	D460G	probably benign	Het
Sh3d21	T	C	4: 126,045,665 (GRCm39)	E338G	probably damaging	Het
Slc7a11	T	C	3: 50,333,599 (GRCm39)	D384G	probably damaging	Het
Snx15	A	G	19: 6,174,181 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,420,549 (GRCm39)	F84L	probably damaging	Het
Tamalin	A	G	15: 101,128,418 (GRCm39)	D152G	probably damaging	Het
Thoc2l	A	G	5: 104,668,121 (GRCm39)	Y881C	probably damaging	Het
Tm9sf2	C	A	14: 122,380,913 (GRCm39)	Q169K	probably benign	Het
Trim56	A	T	5: 137,142,832 (GRCm39)	V228E	probably benign	Het
Triqk	T	A	4: 12,980,390 (GRCm39)		probably null	Het
Ttc21a	T	A	9: 119,795,631 (GRCm39)	I1155N	possibly damaging	Het
Ube3b	T	G	5: 114,557,692 (GRCm39)	Y1059D	probably damaging	Het
Vmn2r14	T	C	5: 109,363,961 (GRCm39)	T652A	probably benign	Het
Wdr4	A	G	17: 31,718,798 (GRCm39)	V304A	probably benign	Het
Wwp2	T	C	8: 108,280,694 (GRCm39)	S646P	possibly damaging	Het
Zfand5	T	A	19: 21,257,009 (GRCm39)	S130T	probably benign	Het
Zfp599	A	T	9: 22,161,396 (GRCm39)	Y256*	probably null	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	T	A	13: 92,642,197 (GRCm39)	I1209L	possibly damaging	Het

Other mutations in Parp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Parp9	APN	16	35,768,368 (GRCm39)	missense	probably damaging	1.00
IGL01365:Parp9	APN	16	35,768,324 (GRCm39)	missense	possibly damaging	0.71
IGL01628:Parp9	APN	16	35,777,285 (GRCm39)	missense	possibly damaging	0.58
IGL02274:Parp9	APN	16	35,768,317 (GRCm39)	missense	probably damaging	1.00
IGL02693:Parp9	APN	16	35,777,340 (GRCm39)	missense	probably benign	0.01
R0109:Parp9	UTSW	16	35,768,711 (GRCm39)	missense	probably damaging	0.97
R0109:Parp9	UTSW	16	35,768,711 (GRCm39)	missense	probably damaging	0.97
R0559:Parp9	UTSW	16	35,768,362 (GRCm39)	missense	probably benign	0.00
R1126:Parp9	UTSW	16	35,768,110 (GRCm39)	missense	possibly damaging	0.53
R1346:Parp9	UTSW	16	35,777,267 (GRCm39)	missense	probably benign	0.00
R1472:Parp9	UTSW	16	35,774,050 (GRCm39)	missense	possibly damaging	0.78
R1642:Parp9	UTSW	16	35,788,067 (GRCm39)	missense	probably benign	0.37
R1900:Parp9	UTSW	16	35,792,591 (GRCm39)	missense	probably benign	0.00
R2055:Parp9	UTSW	16	35,773,984 (GRCm39)	missense	probably damaging	0.97
R3177:Parp9	UTSW	16	35,768,578 (GRCm39)	missense	probably damaging	0.99
R3277:Parp9	UTSW	16	35,768,578 (GRCm39)	missense	probably damaging	0.99
R4039:Parp9	UTSW	16	35,780,417 (GRCm39)	missense	probably damaging	1.00
R4869:Parp9	UTSW	16	35,777,274 (GRCm39)	missense	probably damaging	0.99
R4950:Parp9	UTSW	16	35,768,377 (GRCm39)	missense	probably damaging	1.00
R5112:Parp9	UTSW	16	35,784,683 (GRCm39)	missense	probably damaging	1.00
R5180:Parp9	UTSW	16	35,774,106 (GRCm39)	nonsense	probably null
R5415:Parp9	UTSW	16	35,763,752 (GRCm39)	missense	probably damaging	0.97
R5535:Parp9	UTSW	16	35,777,195 (GRCm39)	missense	probably damaging	0.98
R5727:Parp9	UTSW	16	35,784,467 (GRCm39)	nonsense	probably null
R5842:Parp9	UTSW	16	35,763,778 (GRCm39)	missense	possibly damaging	0.46
R5942:Parp9	UTSW	16	35,792,259 (GRCm39)	missense	possibly damaging	0.90
R6110:Parp9	UTSW	16	35,773,996 (GRCm39)	missense	possibly damaging	0.86
R6193:Parp9	UTSW	16	35,767,921 (GRCm39)	missense	possibly damaging	0.64
R6707:Parp9	UTSW	16	35,768,303 (GRCm39)	missense	probably damaging	1.00
R6957:Parp9	UTSW	16	35,768,716 (GRCm39)	missense	probably benign	0.00
R7014:Parp9	UTSW	16	35,780,433 (GRCm39)	critical splice donor site	probably null
R7064:Parp9	UTSW	16	35,774,042 (GRCm39)	missense	probably benign	0.07
R7205:Parp9	UTSW	16	35,777,360 (GRCm39)	missense	probably benign	0.00
R7221:Parp9	UTSW	16	35,774,071 (GRCm39)	missense	probably benign	0.00
R7693:Parp9	UTSW	16	35,777,282 (GRCm39)	missense	possibly damaging	0.67
R8810:Parp9	UTSW	16	35,773,981 (GRCm39)	nonsense	probably null
R9154:Parp9	UTSW	16	35,768,543 (GRCm39)	missense	probably damaging	0.99
R9449:Parp9	UTSW	16	35,777,234 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGAAAGCCAGCTACTTCTCTG -3'
(R):5'- TACGCTGTCATTGACATCTAAGG -3'

Sequencing Primer
(F):5'- AAGCCAGCTACTTCTCTGTAAATTC -3'
(R):5'- TGTCATTGACATCTAAGGCCCCAG -3'

Posted On

2016-06-15