Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Parpbp'

563153

Institutional Source

Beutler Lab

Gene Symbol

Parpbp

Ensembl Gene

ENSMUSG00000035365

Gene Name

PARP1 binding protein

Synonyms

4930547N16Rik

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87927294-87982803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87960802 bp (GRCm39)

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: 92,512,382 (GRCm39)	I59T	unknown	Het
Aspm	C	T	1: 139,406,389 (GRCm39)	Q1759*	probably null	Het
Atn1	A	T	6: 124,724,861 (GRCm39)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,911,198 (GRCm39)	V879M	probably benign	Het
Cd300c	A	G	11: 114,850,609 (GRCm39)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,247,005 (GRCm39)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,821,137 (GRCm39)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,210,145 (GRCm39)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,874 (GRCm39)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,011,052 (GRCm39)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,416,166 (GRCm39)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,381,861 (GRCm39)	M538I	probably benign	Het
E4f1	T	A	17: 24,663,299 (GRCm39)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,612,589 (GRCm39)	T64A	unknown	Het
Gnai2	A	C	9: 107,492,972 (GRCm39)	D310E		Het
Iqca1	A	G	1: 89,998,272 (GRCm39)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,409,587 (GRCm39)	N249K	probably benign	Het
Lamc1	A	G	1: 153,110,396 (GRCm39)	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,420,582 (GRCm39)	K188E	probably damaging	Het
N4bp2	T	A	5: 65,951,888 (GRCm39)	V431D	probably damaging	Het
Notch4	A	G	17: 34,795,445 (GRCm39)	T792A	probably benign	Het
Ntn4	A	G	10: 93,581,603 (GRCm39)	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,362,317 (GRCm39)	C202R	probably benign	Het
Or10j2	T	C	1: 173,098,561 (GRCm39)	I273T	probably benign	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or5p55	T	C	7: 107,567,395 (GRCm39)	S264P	probably benign	Het
Or5p72	A	G	7: 108,022,140 (GRCm39)	M121V	probably damaging	Het
Or8b55	A	G	9: 38,727,009 (GRCm39)	D70G	probably benign	Het
Or8g24	A	T	9: 38,989,906 (GRCm39)	M45K	probably damaging	Het
Pcdhgb8	G	A	18: 37,896,756 (GRCm39)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,100,830 (GRCm39)	N543S	probably damaging	Het
Puf60	A	G	15: 75,944,388 (GRCm39)		probably benign	Het
Rbm6	A	T	9: 107,730,095 (GRCm39)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,276,436 (GRCm39)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,410,480 (GRCm39)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,322,374 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,299,386 (GRCm39)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,306,861 (GRCm39)	I31S	probably benign	Het
Sipa1l2	A	G	8: 126,196,599 (GRCm39)	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,138,875 (GRCm39)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,696,239 (GRCm39)	N58S	probably benign	Het
Tmc2	C	T	2: 130,076,724 (GRCm39)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,455,544 (GRCm39)	C28R	probably benign	Het
Trbv21	A	T	6: 41,179,892 (GRCm39)	K69N	probably benign	Het
Trpm2	A	G	10: 77,771,710 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,679,334 (GRCm39)	V10796A	unknown	Het
Ush2a	A	G	1: 188,643,858 (GRCm39)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,672,225 (GRCm39)	H726R	probably benign	Het
Zfp777	A	G	6: 48,021,383 (GRCm39)	S80P	probably benign	Het

Other mutations in Parpbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Parpbp	APN	10	87,975,848 (GRCm39)	nonsense	probably null
IGL02058:Parpbp	APN	10	87,979,898 (GRCm39)	missense	probably benign	0.03
IGL02222:Parpbp	APN	10	87,975,947 (GRCm39)	missense	possibly damaging	0.95
IGL02976:Parpbp	APN	10	87,947,456 (GRCm39)	critical splice donor site	probably null
IGL03013:Parpbp	APN	10	87,975,840 (GRCm39)	missense	probably damaging	0.96
PIT4468001:Parpbp	UTSW	10	87,979,935 (GRCm39)	missense	probably benign	0.00
PIT4544001:Parpbp	UTSW	10	87,950,411 (GRCm39)	missense	possibly damaging	0.90
R0145:Parpbp	UTSW	10	87,928,871 (GRCm39)	missense	possibly damaging	0.76
R0201:Parpbp	UTSW	10	87,928,758 (GRCm39)	missense	possibly damaging	0.46
R0471:Parpbp	UTSW	10	87,929,569 (GRCm39)	missense	probably damaging	0.96
R2057:Parpbp	UTSW	10	87,960,824 (GRCm39)	missense	probably benign	0.00
R2350:Parpbp	UTSW	10	87,968,950 (GRCm39)	splice site	probably benign
R4551:Parpbp	UTSW	10	87,929,564 (GRCm39)	missense	possibly damaging	0.82
R4552:Parpbp	UTSW	10	87,929,564 (GRCm39)	missense	possibly damaging	0.82
R5843:Parpbp	UTSW	10	87,969,053 (GRCm39)	missense	probably damaging	1.00
R5951:Parpbp	UTSW	10	87,975,769 (GRCm39)	missense	probably damaging	0.99
R6003:Parpbp	UTSW	10	87,969,020 (GRCm39)	missense	possibly damaging	0.71
R6656:Parpbp	UTSW	10	87,946,175 (GRCm39)	missense	probably benign
R7081:Parpbp	UTSW	10	87,929,517 (GRCm39)	missense	probably damaging	0.99
R7334:Parpbp	UTSW	10	87,947,617 (GRCm39)	missense	probably damaging	0.99
R7615:Parpbp	UTSW	10	87,929,499 (GRCm39)	missense	probably damaging	0.96
R8025:Parpbp	UTSW	10	87,928,970 (GRCm39)	missense	probably benign	0.36
R8919:Parpbp	UTSW	10	87,946,189 (GRCm39)	missense	probably null	0.02
R8923:Parpbp	UTSW	10	87,947,474 (GRCm39)	missense	probably benign	0.00
R8970:Parpbp	UTSW	10	87,962,186 (GRCm39)	missense	probably damaging	0.98
R9100:Parpbp	UTSW	10	87,968,969 (GRCm39)	missense	possibly damaging	0.82
R9404:Parpbp	UTSW	10	87,950,411 (GRCm39)	missense	possibly damaging	0.90
R9433:Parpbp	UTSW	10	87,975,858 (GRCm39)	missense	probably benign	0.36
R9762:Parpbp	UTSW	10	87,960,815 (GRCm39)	missense	possibly damaging	0.95

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