Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02582:Pbp2'

299374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pbp2

Ensembl Gene

ENSMUSG00000047104

Gene Name

phosphatidylethanolamine binding protein 2

Synonyms

1700023A18Rik, Pebp-2, Pebp2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

IGL02582

Quality Score

Status

Chromosome

Chromosomal Location

135286127-135287382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135287147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 67 (I67V)

Ref Sequence

ENSEMBL: ENSMUSP00000098414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050471]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050471
AA Change: I67V

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

SMART Domains

Protein: ENSMUSP00000098414
Gene: ENSMUSG00000047104
AA Change: I67V

Domain	Start	End	E-Value	Type
Pfam:PBP	27	169	4.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203686

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	A	9: 53,506,045 (GRCm39)	I92F	probably benign	Het
Actr3b	A	G	5: 26,037,411 (GRCm39)	I208V	probably benign	Het
Car12	T	C	9: 66,621,159 (GRCm39)	V10A	probably benign	Het
Ccdc171	C	A	4: 83,661,255 (GRCm39)	R1122S	probably damaging	Het
Cep97	A	G	16: 55,742,539 (GRCm39)	V136A	probably damaging	Het
Cilp2	G	T	8: 70,333,936 (GRCm39)	Q1021K	probably damaging	Het
Col24a1	C	A	3: 145,020,247 (GRCm39)	T206N	probably damaging	Het
Crebbp	A	T	16: 3,902,141 (GRCm39)	I2328K	possibly damaging	Het
Ctns	A	G	11: 73,087,478 (GRCm39)	F16S	probably benign	Het
Dbf4	T	C	5: 8,453,172 (GRCm39)	K276E	probably benign	Het
Dnase2b	T	A	3: 146,294,840 (GRCm39)	Q118L	probably benign	Het
Elf1	T	C	14: 79,773,819 (GRCm39)	L10P	probably damaging	Het
Exosc5	T	C	7: 25,364,988 (GRCm39)		probably null	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Fam180a	G	T	6: 35,290,647 (GRCm39)	A112E	possibly damaging	Het
Fam3b	A	T	16: 97,272,391 (GRCm39)	Y89*	probably null	Het
Gcg	C	T	2: 62,308,922 (GRCm39)	W77*	probably null	Het
Gm17472	G	A	6: 42,957,832 (GRCm39)	V34I	possibly damaging	Het
Klhl23	T	A	2: 69,654,582 (GRCm39)	C151S	probably damaging	Het
Mdh1b	T	A	1: 63,758,756 (GRCm39)	I279F	probably benign	Het
Mfsd11	T	A	11: 116,764,701 (GRCm39)	I375N	probably damaging	Het
Mroh2b	T	A	15: 4,937,997 (GRCm39)	I206N	probably damaging	Het
Myo1b	T	C	1: 51,821,133 (GRCm39)	E456G	possibly damaging	Het
Nat8	G	A	6: 85,807,783 (GRCm39)	Q117*	probably null	Het
Nlrp4g	A	C	9: 124,349,764 (GRCm38)		noncoding transcript	Het
Nmt1	G	T	11: 102,955,625 (GRCm39)	G468C	possibly damaging	Het
Nobox	G	T	6: 43,281,973 (GRCm39)	Q367K	possibly damaging	Het
Nusap1	A	G	2: 119,479,470 (GRCm39)	*428W	probably null	Het
Or12j4	T	C	7: 140,046,560 (GRCm39)	F149L	probably benign	Het
Or4c126	G	A	2: 89,824,656 (GRCm39)	M306I	probably benign	Het
Pcdhb8	T	G	18: 37,488,427 (GRCm39)	M35R	possibly damaging	Het
Pkp1	T	C	1: 135,817,664 (GRCm39)	E157G	probably damaging	Het
Pomgnt1	C	T	4: 116,015,747 (GRCm39)	L560F	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Ptprd	T	A	4: 75,865,361 (GRCm39)	R1446S	probably damaging	Het
Ptprq	T	C	10: 107,479,860 (GRCm39)	T1137A	probably benign	Het
Sec22c	T	C	9: 121,514,630 (GRCm39)	I153V	probably benign	Het
Slc30a5	C	T	13: 100,949,155 (GRCm39)		probably null	Het
Smcr8	T	C	11: 60,669,721 (GRCm39)	S290P	probably benign	Het
Stambpl1	T	G	19: 34,212,612 (GRCm39)	L261V	probably benign	Het
Stk38l	T	C	6: 146,668,321 (GRCm39)		probably null	Het
Themis	T	C	10: 28,637,543 (GRCm39)	F216L	probably benign	Het
Trmt1l	T	C	1: 151,309,536 (GRCm39)		probably benign	Het
Usp17lb	C	A	7: 104,489,937 (GRCm39)	C330F	probably damaging	Het
Vmn2r120	A	T	17: 57,831,724 (GRCm39)	L355H	probably damaging	Het
Zc3h7b	T	A	15: 81,653,341 (GRCm39)	C82S	probably benign	Het

Other mutations in Pbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:Pbp2	APN	6	135,287,073 (GRCm39)	missense	probably damaging	1.00
IGL02120:Pbp2	APN	6	135,286,816 (GRCm39)	missense	probably damaging	1.00
R3856:Pbp2	UTSW	6	135,287,143 (GRCm39)	missense	probably benign	0.42
R5476:Pbp2	UTSW	6	135,286,922 (GRCm39)	missense	probably benign	0.21
R5802:Pbp2	UTSW	6	135,286,874 (GRCm39)	missense	possibly damaging	0.84
R7316:Pbp2	UTSW	6	135,286,830 (GRCm39)	missense	probably damaging	0.98
R8184:Pbp2	UTSW	6	135,287,260 (GRCm39)	missense	probably damaging	1.00
R8728:Pbp2	UTSW	6	135,287,104 (GRCm39)	missense	probably benign	0.00
R8783:Pbp2	UTSW	6	135,287,330 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16