Mutagenetix > Incidental Mutation

Incidental Mutation 'R1642:Parp9'

173639

Institutional Source

Beutler Lab

Gene Symbol

Parp9

Ensembl Gene

ENSMUSG00000022906

Gene Name

poly (ADP-ribose) polymerase family, member 9

Synonyms

MMRRC Submission

039678-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R1642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35759360-35792975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35788067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 612 (Y612H)

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 benign
Transcript: ENSMUST00000023622
AA Change: Y379H

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
AA Change: Y379H

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 benign
Transcript: ENSMUST00000114878
AA Change: Y612H

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: Y612H

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,862,233 (GRCm39)	V19A	probably benign	Het
6820408C15Rik	T	C	2: 152,282,774 (GRCm39)	Y210H	probably damaging	Het
Aars1	T	A	8: 111,769,882 (GRCm39)	I327N	possibly damaging	Het
Abca6	T	A	11: 110,109,107 (GRCm39)	N688Y	possibly damaging	Het
Ablim3	T	C	18: 61,947,382 (GRCm39)	K457R	probably benign	Het
Acsm2	A	T	7: 119,162,860 (GRCm39)	N45Y	probably damaging	Het
Agxt2	T	C	15: 10,373,917 (GRCm39)	S108P	probably damaging	Het
Akr1cl	A	T	1: 65,060,588 (GRCm39)	M174K	probably benign	Het
Armh4	T	C	14: 50,005,867 (GRCm39)		probably null	Het
Bfsp1	G	A	2: 143,683,683 (GRCm39)	R214W	probably damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Clip2	T	C	5: 134,532,107 (GRCm39)	D566G	possibly damaging	Het
Colgalt1	A	G	8: 72,073,401 (GRCm39)	I341V	probably benign	Het
Cyp2c38	T	A	19: 39,390,153 (GRCm39)	D349V	probably damaging	Het
Cyp3a16	T	A	5: 145,406,399 (GRCm39)	I18F	unknown	Het
Degs2	C	T	12: 108,658,451 (GRCm39)	C176Y	probably benign	Het
Dhx16	A	T	17: 36,201,957 (GRCm39)	T995S	probably damaging	Het
Dicer1	A	T	12: 104,679,415 (GRCm39)	C521S	probably damaging	Het
Dop1b	T	C	16: 93,559,203 (GRCm39)	S532P	probably benign	Het
Dpysl4	T	G	7: 138,670,254 (GRCm39)	M124R	probably damaging	Het
Eml6	A	G	11: 29,727,001 (GRCm39)		probably null	Het
Erbb4	A	T	1: 68,370,393 (GRCm39)	V395D	probably damaging	Het
Esf1	T	C	2: 140,000,406 (GRCm39)	D460G	possibly damaging	Het
F830045P16Rik	G	A	2: 129,305,634 (GRCm39)	H247Y	probably benign	Het
Fsbp	T	A	4: 11,583,965 (GRCm39)	S221R	probably benign	Het
Fstl5	T	A	3: 76,317,929 (GRCm39)	N198K	possibly damaging	Het
Gemin5	G	T	11: 58,029,906 (GRCm39)	H855Q	probably damaging	Het
Gjd3	T	C	11: 98,873,535 (GRCm39)	E103G	probably benign	Het
I0C0044D17Rik	A	G	4: 98,708,471 (GRCm39)		probably benign	Het
Iqca1l	C	A	5: 24,757,686 (GRCm39)	R177L	probably damaging	Het
Itgb4	A	T	11: 115,898,183 (GRCm39)	R1646W	probably damaging	Het
Klri2	A	T	6: 129,715,837 (GRCm39)	C121S	probably benign	Het
Lamc3	A	G	2: 31,806,008 (GRCm39)	Y703C	probably damaging	Het
Lrrc10	A	G	10: 116,881,788 (GRCm39)	N154S	probably damaging	Het
Lrriq1	A	G	10: 103,050,317 (GRCm39)	F812L	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nav1	T	C	1: 135,380,010 (GRCm39)	Y1564C	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Neurl4	A	G	11: 69,794,485 (GRCm39)	M23V	probably benign	Het
Nnt	A	G	13: 119,541,086 (GRCm39)		probably null	Het
Nolc1	G	C	19: 46,067,461 (GRCm39)		probably null	Het
Nrg1	A	T	8: 32,314,536 (GRCm39)	M289K	probably benign	Het
Oas3	G	T	5: 120,915,639 (GRCm39)	H17Q	possibly damaging	Het
Or10h1	A	G	17: 33,418,430 (GRCm39)	Y132C	probably damaging	Het
Or2z2	A	G	11: 58,346,664 (GRCm39)	I37T	probably benign	Het
Or5m5	A	G	2: 85,814,201 (GRCm39)	K6E	probably benign	Het
Or8g36	C	T	9: 39,422,650 (GRCm39)	R122H	possibly damaging	Het
Pcdh1	A	T	18: 38,332,283 (GRCm39)	M240K	possibly damaging	Het
Pcdhb9	A	G	18: 37,533,987 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,366,518 (GRCm39)	V42A	probably damaging	Het
Ppic	C	T	18: 53,540,134 (GRCm39)	V172M	probably damaging	Het
Ppp1r9b	A	G	11: 94,892,150 (GRCm39)		silent	Het
Prop1	A	G	11: 50,844,152 (GRCm39)	V27A	possibly damaging	Het
Psmc5	A	G	11: 106,153,242 (GRCm39)	T295A	probably benign	Het
Rpa1	A	G	11: 75,203,517 (GRCm39)		probably null	Het
Rrp12	A	G	19: 41,860,176 (GRCm39)	F1016L	probably damaging	Het
Scn2a	A	T	2: 65,514,041 (GRCm39)	I242F	probably damaging	Het
Slco1a6	T	A	6: 142,032,160 (GRCm39)	H655L	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,298,694 (GRCm39)	I1071T	possibly damaging	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Triobp	C	A	15: 78,886,348 (GRCm39)	R1830S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Znfx1	T	C	2: 166,880,930 (GRCm39)	I285V	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
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
R5117:Parp9	UTSW	16	35,792,202 (GRCm39)	splice site	probably null
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'- TGCAAATGCAGCATTAACGGGTAAC -3'
(R):5'- ATTCCAGACTCCAGGTGACTGAGC -3'

Sequencing Primer
(F):5'- CCAGGTTGTAGTATCTGATGCCC -3'
(R):5'- CTGAGCGGCTGAGTCCTTG -3'

Posted On

2014-04-24