Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02976:Parpbp'

406413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parpbp

Ensembl Gene

ENSMUSG00000035365

Gene Name

PARP1 binding protein

Synonyms

4930547N16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

87927294-87982803 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 87947456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038375 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000048518

SMART Domains

Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,816,845 (GRCm39)	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,208,661 (GRCm39)	S288T	probably benign	Het
Ano7	T	A	1: 93,330,395 (GRCm39)	D806E	possibly damaging	Het
Arl6	A	G	16: 59,444,259 (GRCm39)	L79P	probably damaging	Het
Card6	A	T	15: 5,129,310 (GRCm39)	C695*	probably null	Het
Carmil1	T	C	13: 24,276,534 (GRCm39)	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,758,917 (GRCm39)	V52A	probably benign	Het
Chd4	G	A	6: 125,098,331 (GRCm39)	R369H	probably damaging	Het
Clasp2	C	T	9: 113,735,204 (GRCm39)	P1031L	probably damaging	Het
Cldn34d	C	T	X: 75,626,690 (GRCm39)	A121T	probably benign	Het
Clmp	A	C	9: 40,692,520 (GRCm39)	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,104 (GRCm39)		probably benign	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fut1	C	T	7: 45,268,744 (GRCm39)	R233C	probably damaging	Het
Gcdh	A	C	8: 85,615,207 (GRCm39)	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,234,910 (GRCm39)	S16R	possibly damaging	Het
Jph3	T	A	8: 122,479,823 (GRCm39)	L167Q	probably damaging	Het
Jup	A	G	11: 100,269,192 (GRCm39)	V407A	probably benign	Het
Kif17	C	T	4: 137,996,374 (GRCm39)	A117V	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Magi2	C	T	5: 20,739,473 (GRCm39)	P349S	probably damaging	Het
Mlycd	T	C	8: 120,128,224 (GRCm39)	M177T	possibly damaging	Het
Mocos	A	G	18: 24,799,626 (GRCm39)	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,356,497 (GRCm39)	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,355,084 (GRCm39)		probably benign	Het
Myo3a	G	A	2: 22,434,494 (GRCm39)	W825*	probably null	Het
Npas2	T	C	1: 39,326,565 (GRCm39)	S17P	probably damaging	Het
Nrk	A	G	X: 137,892,817 (GRCm39)	I1174V	probably benign	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or4d11	A	T	19: 12,013,337 (GRCm39)	Y256*	probably null	Het
Or4k2	G	A	14: 50,423,889 (GRCm39)	Q262*	probably null	Het
Pcdh10	T	C	3: 45,334,448 (GRCm39)	V254A	possibly damaging	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,813,704 (GRCm39)	V149A	probably benign	Het
Rassf4	T	C	6: 116,615,209 (GRCm39)	E320G	probably damaging	Het
Rgl2	T	A	17: 34,152,936 (GRCm39)	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,411,710 (GRCm39)		probably null	Het
Rpa1	T	A	11: 75,203,628 (GRCm39)	D358V	probably damaging	Het
Sdk2	T	C	11: 113,742,668 (GRCm39)	N747S	probably damaging	Het
Slc17a4	A	C	13: 24,089,407 (GRCm39)	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,006,527 (GRCm39)	V310M	possibly damaging	Het
Spag9	G	A	11: 93,974,779 (GRCm39)	R463H	probably benign	Het
Spmip5	A	T	19: 58,777,552 (GRCm39)	V78E	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt10	A	G	15: 89,698,682 (GRCm39)	S221P	probably benign	Het
Tlk1	T	A	2: 70,551,935 (GRCm39)	K579*	probably null	Het
Tubgcp3	T	C	8: 12,682,300 (GRCm39)	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,434,165 (GRCm39)	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,304,832 (GRCm39)	M14T	probably benign	Het
Zfp59	A	G	7: 27,552,821 (GRCm39)	D91G	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
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
R7240:Parpbp	UTSW	10	87,960,802 (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

Posted On

2016-08-02