Mutagenetix > Incidental Mutation

Incidental Mutation 'R7305:Parp8'

567268

Institutional Source

Beutler Lab

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

MMRRC Submission

045407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116894925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 417 (L417P)

Ref Sequence

ENSEMBL: ENSMUSP00000022239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022239
AA Change: L417P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: L417P

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

possibly damaging
Transcript: ENSMUST00000223949
AA Change: L378P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,285,119	I4019K	probably benign	Het
9130011E15Rik	A	T	19: 45,892,121	M508K	probably benign	Het
Abhd16b	A	T	2: 181,493,416	D37V	possibly damaging	Het
Ankhd1	A	G	18: 36,632,205	D87G		Het
Ankrd31	A	G	13: 96,878,971	S1583G	probably damaging	Het
Ankub1	T	C	3: 57,692,517		probably benign	Het
Apba3	A	G	10: 81,271,233	D264G	probably damaging	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cnot3	A	T	7: 3,645,480		probably benign	Het
Cxxc1	A	G	18: 74,219,396	Y349C	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp3a57	A	G	5: 145,370,985	I184V	probably benign	Het
D130052B06Rik	GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG	GTCTACACTGTCCTG	11: 33,623,355		probably null	Het
Dab1	T	A	4: 104,713,790	D210E		Het
Elavl1	G	A	8: 4,325,199		probably benign	Het
Emilin1	C	T	5: 30,917,089	Q225*	probably null	Het
Eml6	G	T	11: 29,777,258	A1288E	probably benign	Het
Eno1	T	C	4: 150,245,339		probably null	Het
Eprs	C	T	1: 185,379,701	R303C	probably damaging	Het
Eps15l1	G	A	8: 72,373,034	A651V	probably benign	Het
Etl4	A	T	2: 20,709,557	I156F	probably damaging	Het
Faim2	A	T	15: 99,513,933	I171N	probably damaging	Het
Fam105a	A	G	15: 27,658,233	C184R	probably benign	Het
Fam135a	T	A	1: 24,030,858	N381I	probably damaging	Het
Fam160a1	G	T	3: 85,730,524	P156Q	probably damaging	Het
Fam71d	A	G	12: 78,715,035	K158E	possibly damaging	Het
Gabrg3	T	A	7: 56,735,085	M243L	probably benign	Het
Gm5134	A	G	10: 76,000,399	I405V	probably damaging	Het
Gm6614	G	A	6: 141,992,494	A253V	probably damaging	Het
Gm9376	A	T	14: 118,267,356	K67*	probably null	Het
Grm8	A	T	6: 27,761,355	I290K	possibly damaging	Het
Hao1	T	A	2: 134,548,201	M73L	probably benign	Het
Herc1	A	G	9: 66,461,868	D452G		Het
Idh3b	C	A	2: 130,281,493	K192N	possibly damaging	Het
Igkv6-23	A	G	6: 70,260,569	S63P	probably benign	Het
Itgb2	A	C	10: 77,548,564	D173A	probably damaging	Het
Jmjd8	A	T	17: 25,830,327	T255S	probably benign	Het
Lamc3	A	C	2: 31,930,702	E1243A	probably benign	Het
Map1a	A	G	2: 121,299,458	T252A	probably damaging	Het
Mrgpra1	C	A	7: 47,335,455	A159S	probably benign	Het
Ndst3	T	C	3: 123,601,482	I500V	possibly damaging	Het
Nhsl1	A	G	10: 18,531,686	T1523A	possibly damaging	Het
Nr2f1	A	G	13: 78,195,179	I322T	probably damaging	Het
Nup210	T	C	6: 91,087,966	E184G	probably damaging	Het
Obsl1	C	T	1: 75,493,946	W1022*	probably null	Het
Olfr1250	T	A	2: 89,656,502	H313L	probably benign	Het
Olfr166	T	A	16: 19,487,699	I287N	probably damaging	Het
Olfr470	A	T	7: 107,845,365	Y123N	probably damaging	Het
Olfr551	G	T	7: 102,587,955	Q263K	possibly damaging	Het
Olfr802	A	T	10: 129,682,280	I153N	probably damaging	Het
Olfr808	T	A	10: 129,767,851	Y118*	probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Pdia6	A	G	12: 17,274,508	Q120R	probably benign	Het
Ppp3cc	T	C	14: 70,240,803	N290S	probably benign	Het
Prdm5	C	A	6: 65,831,260	S63R	possibly damaging	Het
Prr14l	T	C	5: 32,831,101	D350G	probably benign	Het
Pwwp2a	T	C	11: 43,717,051	L497S	probably damaging	Het
R3hdm2	A	G	10: 127,476,678	N430D	probably benign	Het
Rad51ap2	A	G	12: 11,457,343	N422S	possibly damaging	Het
Rbbp8	G	A	18: 11,672,581		probably null	Het
Rsf1	GGCGGCGGC	GGCGGCGGCAGCGGCGGC	7: 97,579,918		probably benign	Het
Slc22a6	G	A	19: 8,622,158		probably null	Het
Slc28a3	T	A	13: 58,566,231	E440V	possibly damaging	Het
Slc30a5	A	T	13: 100,811,424	I482K	probably damaging	Het
Slco1a1	A	T	6: 141,924,497	F305Y	probably damaging	Het
Slco4c1	T	C	1: 96,828,965	N544S	probably damaging	Het
Smpd4	T	A	16: 17,641,783	I656N	probably damaging	Het
Taok1	A	T	11: 77,541,674	L771*	probably null	Het
Tmem231	T	C	8: 111,915,295	D209G	possibly damaging	Het
Tmem25	A	G	9: 44,795,408		probably null	Het
Tmem79	T	C	3: 88,333,411	T77A	probably benign	Het
Topbp1	A	T	9: 103,328,637	T825S	probably damaging	Het
Trpm6	A	T	19: 18,876,091	Q1825L	probably benign	Het
Uba1y	T	A	Y: 821,348	D110E	probably damaging	Het
Utrn	A	T	10: 12,385,536	N3422K	probably benign	Het
Vmn1r219	A	T	13: 23,163,144	M168L	probably benign	Het
Vmn2r62	T	C	7: 42,764,811	H736R	possibly damaging	Het
Wdr1	T	C	5: 38,540,092	H291R	possibly damaging	Het
Zan	T	C	5: 137,415,139	T3177A	unknown	Het
Zbtb21	T	C	16: 97,951,295	H596R	possibly damaging	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
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
R9005:Parp8	UTSW	13	116876590	missense	probably benign
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'- GATAAGCCCTGAGGTAAGCG -3'
(R):5'- TGCTCCAGTACTGTCAAAGC -3'

Sequencing Primer
(F):5'- TGGGTTCCTTGAAATGCTCC -3'
(R):5'- TCAAAGCCGATGATATGTGTGCC -3'

Posted On

2019-06-26