Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Parp9'

460373

Institutional Source

Beutler Lab

Gene Symbol

Parp9

Ensembl Gene

ENSMUSG00000022906

Gene Name

poly (ADP-ribose) polymerase family, member 9

Synonyms

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

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

Stock #

R5942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35759360-35792975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35792259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 485 (D485G)

Ref Sequence

ENSEMBL: ENSMUSP00000023622 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023622
AA Change: D485G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
AA Change: D485G

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: D718G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: D718G

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: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Entrep1	A	G	19: 23,963,834 (GRCm39)	V245A	probably damaging	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- GTATCAGTGATATTGCCCCAGGG -3'
(R):5'- TCCACAAGTACAGGGGCATG -3'

Sequencing Primer
(F):5'- CCAGGGGAGCTACTTAGGGTG -3'
(R):5'- AACAACAATGGTTTCAGGGCTG -3'

Posted On

2017-02-28