Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02390:Parp16'

294227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp16

Ensembl Gene

ENSMUSG00000032392

Gene Name

poly (ADP-ribose) polymerase family, member 16

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

65121918-65146502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65141051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 207 (P207L)

Ref Sequence

ENSEMBL: ENSMUSP00000150997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069000] [ENSMUST00000213396] [ENSMUST00000216486] [ENSMUST00000216702]

AlphaFold

Q7TMM8

Predicted Effect

probably benign
Transcript: ENSMUST00000069000
AA Change: P207L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070098
Gene: ENSMUSG00000032392
AA Change: P207L

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
Pfam:PARP	90	273	7.8e-40	PFAM
transmembrane domain	291	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213396
AA Change: P207L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216486
AA Change: P207L

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000216702
AA Change: P207L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,187,377 (GRCm39)	K894R	probably benign	Het
Ampd1	C	T	3: 102,986,357 (GRCm39)	A12V	probably benign	Het
Ano4	T	A	10: 88,860,843 (GRCm39)	D345V	possibly damaging	Het
Arl6	A	G	16: 59,441,580 (GRCm39)		probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrn	C	T	2: 130,862,897 (GRCm39)	P1326S	possibly damaging	Het
Btbd9	A	G	17: 30,743,788 (GRCm39)	V238A	probably benign	Het
Cdh16	T	C	8: 105,348,606 (GRCm39)	T141A	probably damaging	Het
Cetn4	T	C	3: 37,363,305 (GRCm39)	D102G	probably damaging	Het
Col5a3	T	A	9: 20,688,292 (GRCm39)	N1256I	unknown	Het
Cyfip2	A	G	11: 46,112,225 (GRCm39)	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,250,490 (GRCm39)	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,731,990 (GRCm39)	S336A	probably damaging	Het
Dnah8	G	A	17: 31,049,819 (GRCm39)	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,478,694 (GRCm39)	V59A	possibly damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
F2	A	T	2: 91,463,332 (GRCm39)	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,666,660 (GRCm39)	R171H	probably damaging	Het
Fhod3	A	C	18: 25,199,332 (GRCm39)	S668R	probably benign	Het
Fkbp10	T	A	11: 100,306,843 (GRCm39)	F78L	probably damaging	Het
Garre1	T	C	7: 33,947,643 (GRCm39)	D455G	probably damaging	Het
Hyi	C	T	4: 118,219,810 (GRCm39)	R254C	probably benign	Het
Igfl3	A	T	7: 17,915,659 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,146,713 (GRCm39)	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,322,101 (GRCm39)	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,760,716 (GRCm39)	H115L	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mrpl15	T	C	1: 4,855,837 (GRCm39)	S22G	probably benign	Het
Nf1	T	C	11: 79,456,761 (GRCm39)	Y616H	possibly damaging	Het
Nf1	T	A	11: 79,302,502 (GRCm39)		probably benign	Het
Olig1	C	A	16: 91,067,041 (GRCm39)	Q93K	probably damaging	Het
Or13d1	T	A	4: 52,971,263 (GRCm39)	I214N	probably damaging	Het
Or1o1	A	T	17: 37,716,986 (GRCm39)	L182F	probably benign	Het
Or4f59	A	T	2: 111,873,056 (GRCm39)	V107E	possibly damaging	Het
Otoa	C	A	7: 120,730,590 (GRCm39)	L597M	possibly damaging	Het
Pbrm1	T	A	14: 30,754,467 (GRCm39)	D162E	probably benign	Het
Pramel21	T	A	4: 143,341,895 (GRCm39)	M108K	probably benign	Het
Prdm10	A	G	9: 31,264,685 (GRCm39)	I658V	possibly damaging	Het
Psg21	A	T	7: 18,386,556 (GRCm39)	H143Q	probably benign	Het
Rfx4	C	T	10: 84,676,014 (GRCm39)	R28W	probably damaging	Het
Sart1	T	G	19: 5,430,489 (GRCm39)	M753L	possibly damaging	Het
Smcr8	T	A	11: 60,670,548 (GRCm39)	D565E	probably benign	Het
Smyd4	T	A	11: 75,278,332 (GRCm39)		probably null	Het
Sned1	T	C	1: 93,189,386 (GRCm39)	V274A	probably benign	Het
Tbc1d13	T	C	2: 30,027,399 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,697,534 (GRCm39)	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,819,427 (GRCm39)	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,216,212 (GRCm39)	V178I	possibly damaging	Het
Usp13	T	A	3: 32,985,865 (GRCm39)	Y175*	probably null	Het
Vwde	A	G	6: 13,190,684 (GRCm39)	V469A	probably damaging	Het

Other mutations in Parp16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Parp16	APN	9	65,137,245 (GRCm39)	missense	probably damaging	1.00
IGL02650:Parp16	APN	9	65,141,098 (GRCm39)	missense	probably damaging	0.99
R1845:Parp16	UTSW	9	65,122,876 (GRCm39)	missense	possibly damaging	0.65
R2860:Parp16	UTSW	9	65,141,086 (GRCm39)	missense	probably damaging	1.00
R2861:Parp16	UTSW	9	65,141,086 (GRCm39)	missense	probably damaging	1.00
R4820:Parp16	UTSW	9	65,145,175 (GRCm39)	missense	probably damaging	0.96
R7802:Parp16	UTSW	9	65,137,179 (GRCm39)	missense	probably benign	0.02
R8163:Parp16	UTSW	9	65,137,231 (GRCm39)	missense	probably damaging	1.00
R8928:Parp16	UTSW	9	65,133,396 (GRCm39)	missense	probably benign	0.00
R9519:Parp16	UTSW	9	65,137,222 (GRCm39)	nonsense	probably null
R9718:Parp16	UTSW	9	65,141,009 (GRCm39)	missense	probably damaging	1.00
R9729:Parp16	UTSW	9	65,137,097 (GRCm39)	missense	possibly damaging	0.79

Posted On

2015-04-16