Mutagenetix > Incidental Mutation

Incidental Mutation 'R9005:Parp8'

685244

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

068835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116876590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 638 (N638D)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239
AA Change: N638D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: N638D

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
internal_repeat_1	332	410	4.61e-10	PROSPERO
internal_repeat_1	404	476	4.61e-10	PROSPERO
low complexity region	497	514	N/A	INTRINSIC
Pfam:PARP	712	839	2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223949
AA Change: N599D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	T	19: 21,652,711		probably benign	Het
Abcd4	C	T	12: 84,608,582	W369*	probably null	Het
Abcf3	A	G	16: 20,549,306	E98G	probably benign	Het
Acaca	A	T	11: 84,371,584	D2004V	probably damaging	Het
Acot5	G	C	12: 84,069,856	M130I		Het
Adamts3	C	T	5: 89,677,834	E1049K	probably benign	Het
Agfg2	A	T	5: 137,652,482	L456Q	probably damaging	Het
Agtr1b	T	A	3: 20,316,179	T88S	possibly damaging	Het
Amer2	G	C	14: 60,379,927	D524H	probably damaging	Het
Ankrd61	T	A	5: 143,894,858	T43S	probably benign	Het
Apcs	A	G	1: 172,894,209	L190P	probably benign	Het
Arsg	A	G	11: 109,490,520	K30E	probably benign	Het
Banp	A	T	8: 121,978,702	M104L	possibly damaging	Het
BC048403	A	G	10: 121,750,596	Y272C	probably damaging	Het
BC080695	G	A	4: 143,571,855	D123N	probably benign	Het
Caskin1	A	G	17: 24,499,137	Q268R	probably benign	Het
Ccdc112	A	G	18: 46,296,388	V81A	probably damaging	Het
Cfap44	T	C	16: 44,460,154	I1432T	probably damaging	Het
Chd2	A	T	7: 73,484,546	N684K	probably damaging	Het
Creb1	T	C	1: 64,566,319		probably null	Het
Ctsc	C	T	7: 88,278,294	T31I	probably damaging	Het
Cttnbp2	C	A	6: 18,434,431	R476L	probably damaging	Het
Cwf19l1	T	C	19: 44,123,214	D260G	possibly damaging	Het
Cyp24a1	A	T	2: 170,494,085	S211T	probably damaging	Het
Ddx3y	T	C	Y: 1,282,919	N46D	probably damaging	Het
Dgkz	G	T	2: 91,938,745	H653Q	probably benign	Het
Dnajc16	A	T	4: 141,764,634	I626N	possibly damaging	Het
Dsc2	T	C	18: 20,038,094	D616G	probably benign	Het
Dscam	A	T	16: 96,801,380	S621T	probably damaging	Het
Dst	T	A	1: 34,228,693	V3058E	probably damaging	Het
Ep400	A	T	5: 110,711,093	C1125S	unknown	Het
Glyatl3	G	A	17: 40,912,728	Q41*	probably null	Het
Gm7694	T	G	1: 170,301,358	I201L	probably damaging	Het
Gnal	C	T	18: 67,088,759	R78*	probably null	Het
Gtf3c1	T	C	7: 125,703,897	D122G	probably benign	Het
Htt	G	T	5: 34,817,751	D622Y	possibly damaging	Het
Igkv4-92	A	G	6: 68,755,097	C98R	probably benign	Het
Incenp	G	A	19: 9,877,724	R608*	probably null	Het
Kif3c	G	A	12: 3,401,706	R679H	probably damaging	Het
Kng1	T	A	16: 23,079,396	H515Q	probably damaging	Het
Lamb2	T	C	9: 108,484,171		probably null	Het
Malrd1	A	T	2: 15,845,329	N1253I	unknown	Het
Map3k21	A	T	8: 125,910,732	D19V		Het
March2	G	T	17: 33,696,233	P129Q	probably damaging	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Ms4a4d	T	A	19: 11,556,200	D148E	possibly damaging	Het
Myl4	A	G	11: 104,577,558	D36G	probably damaging	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr206	A	T	16: 59,345,566	I45N	probably damaging	Het
Olfr235	A	G	19: 12,268,340	T37A	probably benign	Het
Olfr447	T	C	6: 42,912,236	S238P	probably damaging	Het
Pard3	G	A	8: 127,277,166	S123N	probably damaging	Het
Pgpep1l	A	T	7: 68,237,658	S65T	probably damaging	Het
Ppp1r13b	A	G	12: 111,830,274	V1068A	probably benign	Het
Prkd1	G	A	12: 50,383,402	Q641*	probably null	Het
Ptgr2	T	C	12: 84,298,099	V82A	possibly damaging	Het
Rbm34	G	A	8: 126,959,582	P225S	possibly damaging	Het
Rnps1	A	T	17: 24,418,522	K46I	unknown	Het
Shank1	T	C	7: 44,352,985	V1376A	probably benign	Het
Ski	A	T	4: 155,221,860	Y221N	probably damaging	Het
Skint6	C	A	4: 113,238,150	G104V	probably damaging	Het
Slit2	G	A	5: 48,302,518	C1380Y	possibly damaging	Het
Smpd3	C	T	8: 106,257,426	G554S	probably benign	Het
Sorbs2	T	G	8: 45,795,737	V675G	probably benign	Het
Spdl1	C	A	11: 34,809,708	C605F	possibly damaging	Het
Syne1	C	A	10: 5,205,406	D5568Y	probably benign	Het
Tac1	C	A	6: 7,559,141	A111D	possibly damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnfrsf1a	T	C	6: 125,356,915	C44R	probably damaging	Het
Traf3ip3	T	C	1: 193,181,977	Q366R	probably benign	Het
Trip10	A	G	17: 57,262,416	D479G	probably damaging	Het
Trip11	T	C	12: 101,878,872	T1536A	probably benign	Het
Tstd3	G	T	4: 21,767,082	A13E	possibly damaging	Het
Urb1	T	C	16: 90,753,790	K2058R	probably benign	Het
Usp15	A	T	10: 123,146,798	I304N	possibly damaging	Het
Usp18	T	G	6: 121,252,570	H49Q	probably benign	Het
Vmn1r56	T	A	7: 5,196,390	D76V	probably damaging	Het
Wnk1	A	G	6: 119,962,432	S167P	probably damaging	Het
Zfp229	G	A	17: 21,746,750	A654T	possibly damaging	Het
Zfp977	C	T	7: 42,580,658	V148I	probably benign	Het
Znfx1	A	T	2: 167,038,736	I1240N		Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	116927323	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	116895064	missense	possibly damaging	0.72
IGL01793:Parp8	APN	13	116910879	missense	probably damaging	1.00
IGL01926:Parp8	APN	13	116862302	splice site	probably benign
IGL01958:Parp8	APN	13	116876572	missense	probably benign	0.14
IGL02131:Parp8	APN	13	116910873	missense	probably benign	0.08
IGL02398:Parp8	APN	13	116910863	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116862302	splice site	probably benign
IGL03135:Parp8	APN	13	116910942	missense	probably benign	0.41
IGL03143:Parp8	APN	13	116910961	splice site	probably benign
IGL03201:Parp8	APN	13	116863069	splice site	probably benign
blondi	UTSW	13	116893041	missense	possibly damaging	0.77
Heidi	UTSW	13	116862204	splice site	probably null
R0362:Parp8	UTSW	13	116924968	nonsense	probably null
R0699:Parp8	UTSW	13	116922584	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117025350	splice site	probably null
R1676:Parp8	UTSW	13	116877528	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	116910913	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	116868432	splice site	probably benign
R2049:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2142:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2474:Parp8	UTSW	13	116893041	missense	possibly damaging	0.77
R2566:Parp8	UTSW	13	116895687	missense	possibly damaging	0.78
R3863:Parp8	UTSW	13	116894767	missense	probably benign	0.01
R4126:Parp8	UTSW	13	116868469	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	116868536	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116862204	splice site	probably null
R5633:Parp8	UTSW	13	116876580	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	116869433	missense	probably benign	0.12
R5978:Parp8	UTSW	13	116895732	missense	probably benign	0.01
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	116895115	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	116895091	missense	probably damaging	1.00
R7139:Parp8	UTSW	13	117025266	missense	probably benign	0.21
R7305:Parp8	UTSW	13	116894925	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	116868460	missense	probably benign	0.01
R7360:Parp8	UTSW	13	116895771	missense	probably benign	0.02
R7526:Parp8	UTSW	13	116894805	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	116924983	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	116867073	nonsense	probably null
R8372:Parp8	UTSW	13	116855250	missense	probably damaging	1.00
R9072:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	116864245	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	116893026	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	116902824	nonsense	probably null
R9470:Parp8	UTSW	13	116894756	missense	probably benign	0.02
R9562:Parp8	UTSW	13	116893095	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGGCAGAGTTGAATTAGACCATC -3'
(R):5'- AGATATCAACCCTCTGTCCCTG -3'

Sequencing Primer
(F):5'- GAGTTGAATTAGACCATCCTCTCACG -3'
(R):5'- GTCCCTGCTTCATCTTAATACAC -3'

Posted On

2021-10-11