Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Parp9'

475861

Institutional Source

Beutler Lab

Gene Symbol

Parp9

Ensembl Gene

ENSMUSG00000022906

Gene Name

poly (ADP-ribose) polymerase family, member 9

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35938470-35972605 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35948208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 20 (S20P)

Ref Sequence

ENSEMBL: ENSMUSP00000023622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000114877] [ENSMUST00000114878] [ENSMUST00000122870]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023622
AA Change: S20P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
AA Change: S20P

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

possibly damaging
Transcript: ENSMUST00000114878
AA Change: S253P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: S253P

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

probably benign
Transcript: ENSMUST00000122870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153066

Predicted Effect

probably benign
Transcript: ENSMUST00000159160

SMART Domains

Protein: ENSMUSP00000124098
Gene: ENSMUSG00000022906

Domain	Start	End	E-Value	Type
Pfam:Macro	29	100	8.3e-9	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Parp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Parp9	APN	16	35947998	missense	probably damaging	1.00
IGL01365:Parp9	APN	16	35947954	missense	possibly damaging	0.71
IGL01628:Parp9	APN	16	35956915	missense	possibly damaging	0.58
IGL02274:Parp9	APN	16	35947947	missense	probably damaging	1.00
IGL02693:Parp9	APN	16	35956970	missense	probably benign	0.01
R0109:Parp9	UTSW	16	35948341	missense	probably damaging	0.97
R0109:Parp9	UTSW	16	35948341	missense	probably damaging	0.97
R0559:Parp9	UTSW	16	35947992	missense	probably benign	0.00
R1126:Parp9	UTSW	16	35947740	missense	possibly damaging	0.53
R1346:Parp9	UTSW	16	35956897	missense	probably benign	0.00
R1472:Parp9	UTSW	16	35953680	missense	possibly damaging	0.78
R1642:Parp9	UTSW	16	35967697	missense	probably benign	0.37
R1900:Parp9	UTSW	16	35972221	missense	probably benign	0.00
R2055:Parp9	UTSW	16	35953614	missense	probably damaging	0.97
R3177:Parp9	UTSW	16	35948208	missense	probably damaging	0.99
R4039:Parp9	UTSW	16	35960047	missense	probably damaging	1.00
R4869:Parp9	UTSW	16	35956904	missense	probably damaging	0.99
R4950:Parp9	UTSW	16	35948007	missense	probably damaging	1.00
R5112:Parp9	UTSW	16	35964313	missense	probably damaging	1.00
R5117:Parp9	UTSW	16	35971832	splice site	probably null
R5180:Parp9	UTSW	16	35953736	nonsense	probably null
R5415:Parp9	UTSW	16	35943382	missense	probably damaging	0.97
R5535:Parp9	UTSW	16	35956825	missense	probably damaging	0.98
R5727:Parp9	UTSW	16	35964097	nonsense	probably null
R5842:Parp9	UTSW	16	35943408	missense	possibly damaging	0.46
R5942:Parp9	UTSW	16	35971889	missense	possibly damaging	0.90
R6110:Parp9	UTSW	16	35953626	missense	possibly damaging	0.86
R6193:Parp9	UTSW	16	35947551	missense	possibly damaging	0.64
R6707:Parp9	UTSW	16	35947933	missense	probably damaging	1.00
R6957:Parp9	UTSW	16	35948346	missense	probably benign	0.00
R7014:Parp9	UTSW	16	35960063	critical splice donor site	probably null
R7064:Parp9	UTSW	16	35953672	missense	probably benign	0.07
R7205:Parp9	UTSW	16	35956990	missense	probably benign	0.00
R7221:Parp9	UTSW	16	35953701	missense	probably benign	0.00
R7693:Parp9	UTSW	16	35956912	missense	possibly damaging	0.67
R8810:Parp9	UTSW	16	35953611	nonsense	probably null
R9154:Parp9	UTSW	16	35948173	missense	probably damaging	0.99
R9449:Parp9	UTSW	16	35956864	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11