Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Parpbp'

563153

Institutional Source

Beutler Lab

Gene Symbol

Parpbp

Ensembl Gene

ENSMUSG00000035365

Gene Name

PARP1 binding protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88091432-88146941 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88124940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 228 (T228I)

Ref Sequence

ENSEMBL: ENSMUSP00000038375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048518] [ENSMUST00000164121] [ENSMUST00000168163]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048518
AA Change: T228I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365
AA Change: T228I

Domain	Start	End	E-Value	Type
SCOP:d1pjr_2	154	268	8e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164121

SMART Domains

Protein: ENSMUSP00000130777
Gene: ENSMUSG00000035365

Domain	Start	End	E-Value	Type
SCOP:d1pjr_2	154	202	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168163

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	Het

Other mutations in Parpbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Parpbp	APN	10	88139986	nonsense	probably null
IGL02058:Parpbp	APN	10	88144036	missense	probably benign	0.03
IGL02222:Parpbp	APN	10	88140085	missense	possibly damaging	0.95
IGL02976:Parpbp	APN	10	88111594	critical splice donor site	probably null
IGL03013:Parpbp	APN	10	88139978	missense	probably damaging	0.96
PIT4468001:Parpbp	UTSW	10	88144073	missense	probably benign	0.00
PIT4544001:Parpbp	UTSW	10	88114549	missense	possibly damaging	0.90
R0145:Parpbp	UTSW	10	88093009	missense	possibly damaging	0.76
R0201:Parpbp	UTSW	10	88092896	missense	possibly damaging	0.46
R0471:Parpbp	UTSW	10	88093707	missense	probably damaging	0.96
R2057:Parpbp	UTSW	10	88124962	missense	probably benign	0.00
R2350:Parpbp	UTSW	10	88133088	splice site	probably benign
R4551:Parpbp	UTSW	10	88093702	missense	possibly damaging	0.82
R4552:Parpbp	UTSW	10	88093702	missense	possibly damaging	0.82
R5843:Parpbp	UTSW	10	88133191	missense	probably damaging	1.00
R5951:Parpbp	UTSW	10	88139907	missense	probably damaging	0.99
R6003:Parpbp	UTSW	10	88133158	missense	possibly damaging	0.71
R6656:Parpbp	UTSW	10	88110313	missense	probably benign
R7081:Parpbp	UTSW	10	88093655	missense	probably damaging	0.99
R7334:Parpbp	UTSW	10	88111755	missense	probably damaging	0.99
R7615:Parpbp	UTSW	10	88093637	missense	probably damaging	0.96
R8025:Parpbp	UTSW	10	88093108	missense	probably benign	0.36
R8919:Parpbp	UTSW	10	88110327	missense	probably null	0.02
R8923:Parpbp	UTSW	10	88111612	missense	probably benign	0.00
R8970:Parpbp	UTSW	10	88126324	missense	probably damaging	0.98
R9100:Parpbp	UTSW	10	88133107	missense	possibly damaging	0.82
R9404:Parpbp	UTSW	10	88114549	missense	possibly damaging	0.90
R9433:Parpbp	UTSW	10	88139996	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GATGCTTGGTGATTTCAGTATTACC -3'
(R):5'- TCCTTAGCGTGTGACATGGC -3'

Sequencing Primer
(F):5'- ATTCCTACCTCTGAATCTGTGAAG -3'
(R):5'- ACATGGCCCATGAAGTGTGC -3'

Posted On

2019-06-26