Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03124:Plbd2'

410117

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plbd2

Ensembl Gene

ENSMUSG00000029598

Gene Name

phospholipase B domain containing 2

Synonyms

p76, 1300012G16Rik, 66.3 kDa

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

120621958-120641688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120631142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 212 (F212I)

Ref Sequence

ENSEMBL: ENSMUSP00000031597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031597]

AlphaFold

Q3TCN2

PDB Structure

Crystal structure of the lysosomal 66.3 kDa protein from mouse solved by S-SAD [X-RAY DIFFRACTION]
Two chain form of the 66.3 kDa protein at 1.8 Angstroem [X-RAY DIFFRACTION]
Two chain form of the 66.3 kDa protein from mouse lacking the linker peptide [X-RAY DIFFRACTION]
One chain form of the 66.3 kDa protein [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031597
AA Change: F212I

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: F212I

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Phospholip_B	62	591	2.9e-179	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151361

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,268,449 (GRCm39)		probably benign	Het
4931414P19Rik	A	G	14: 54,832,596 (GRCm39)	V193A	probably benign	Het
Acap3	T	C	4: 155,989,490 (GRCm39)	S645P	probably benign	Het
Alms1	A	G	6: 85,655,401 (GRCm39)	I3316V	probably benign	Het
Apc	T	G	18: 34,433,038 (GRCm39)	H424Q	probably damaging	Het
Camsap2	A	T	1: 136,202,537 (GRCm39)		probably null	Het
Car13	C	T	3: 14,722,000 (GRCm39)	P182L	possibly damaging	Het
Ccdc87	T	G	19: 4,891,082 (GRCm39)	S525A	probably damaging	Het
Ces1f	T	C	8: 94,002,012 (GRCm39)	N39D	probably benign	Het
Cyp2j13	C	A	4: 95,950,159 (GRCm39)	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,904,786 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,035,701 (GRCm39)	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,926,803 (GRCm39)	V171M	probably damaging	Het
Hivep1	G	T	13: 42,312,380 (GRCm39)	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,385,258 (GRCm39)	D234G	unknown	Het
Igsf10	T	C	3: 59,227,086 (GRCm39)	T2196A	probably benign	Het
Kctd19	T	A	8: 106,113,702 (GRCm39)	Q657L	possibly damaging	Het
Klhl40	T	A	9: 121,609,751 (GRCm39)	I512N	probably damaging	Het
Lima1	A	T	15: 99,694,615 (GRCm39)		probably benign	Het
Map2k4	A	C	11: 65,581,617 (GRCm39)	I365S	probably damaging	Het
Mast4	T	A	13: 102,874,753 (GRCm39)	K1346N	probably damaging	Het
Met	T	A	6: 17,492,077 (GRCm39)	F280I	probably benign	Het
Ncapg	A	G	5: 45,828,551 (GRCm39)	T101A	probably benign	Het
Nup214	T	C	2: 31,886,452 (GRCm39)	F605L	probably benign	Het
Odr4	A	G	1: 150,262,176 (GRCm39)	V88A	probably benign	Het
Or51k1	G	T	7: 103,661,001 (GRCm39)	Q303K	probably benign	Het
Or5ae2	T	A	7: 84,505,931 (GRCm39)	M118K	probably damaging	Het
Or7e177	T	A	9: 20,212,459 (GRCm39)	M322K	probably benign	Het
Pck2	C	T	14: 55,782,790 (GRCm39)	T373I	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pecr	A	C	1: 72,316,499 (GRCm39)	S69A	probably benign	Het
Pgap6	G	A	17: 26,335,808 (GRCm39)	R65Q	probably damaging	Het
Pitpnb	A	G	5: 111,478,696 (GRCm39)	E6G	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Rfk	T	A	19: 17,375,959 (GRCm39)	H84Q	possibly damaging	Het
Scp2	T	A	4: 107,921,103 (GRCm39)	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,619,895 (GRCm39)	T74A	probably damaging	Het
Spmip6	T	C	4: 41,507,287 (GRCm39)	N170D	possibly damaging	Het
St6galnac1	G	A	11: 116,666,125 (GRCm39)	A35V	probably benign	Het
Tasor2	A	T	13: 3,624,704 (GRCm39)	Y1749N	probably benign	Het
Trav17	T	C	14: 54,044,106 (GRCm39)	V4A	probably benign	Het
Vmn1r57	A	T	7: 5,224,021 (GRCm39)	H182L	possibly damaging	Het
Vwa8	A	T	14: 79,296,255 (GRCm39)		probably benign	Het
Zgpat	A	G	2: 181,007,973 (GRCm39)	Y170C	probably benign	Het

Other mutations in Plbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Plbd2	APN	5	120,623,875 (GRCm39)	missense	possibly damaging	0.57
IGL01635:Plbd2	APN	5	120,637,114 (GRCm39)	missense	probably damaging	1.00
IGL02017:Plbd2	APN	5	120,626,623 (GRCm39)	missense	probably damaging	1.00
IGL02040:Plbd2	APN	5	120,625,507 (GRCm39)	missense	probably damaging	1.00
IGL03094:Plbd2	APN	5	120,624,845 (GRCm39)	missense	probably damaging	1.00
R0077:Plbd2	UTSW	5	120,624,104 (GRCm39)	critical splice donor site	probably null
R0087:Plbd2	UTSW	5	120,632,550 (GRCm39)	nonsense	probably null
R0294:Plbd2	UTSW	5	120,625,514 (GRCm39)	splice site	probably null
R1682:Plbd2	UTSW	5	120,623,849 (GRCm39)	missense	probably damaging	0.97
R1818:Plbd2	UTSW	5	120,625,574 (GRCm39)	splice site	probably null
R3796:Plbd2	UTSW	5	120,630,933 (GRCm39)	missense	probably damaging	1.00
R4935:Plbd2	UTSW	5	120,624,786 (GRCm39)	missense	possibly damaging	0.95
R5082:Plbd2	UTSW	5	120,629,249 (GRCm39)	nonsense	probably null
R5420:Plbd2	UTSW	5	120,632,547 (GRCm39)	missense	probably damaging	0.98
R5441:Plbd2	UTSW	5	120,637,147 (GRCm39)	missense	probably benign
R5582:Plbd2	UTSW	5	120,631,171 (GRCm39)	missense	probably benign	0.00
R5643:Plbd2	UTSW	5	120,631,231 (GRCm39)	splice site	probably null
R6831:Plbd2	UTSW	5	120,631,131 (GRCm39)	missense	probably benign	0.03
R6859:Plbd2	UTSW	5	120,641,407 (GRCm39)	missense	probably benign
R7343:Plbd2	UTSW	5	120,631,214 (GRCm39)	missense	probably damaging	1.00
R7436:Plbd2	UTSW	5	120,624,861 (GRCm39)	missense	probably damaging	1.00
R7779:Plbd2	UTSW	5	120,625,743 (GRCm39)	missense	probably damaging	1.00
R7789:Plbd2	UTSW	5	120,623,819 (GRCm39)	missense	probably damaging	1.00
R8237:Plbd2	UTSW	5	120,637,114 (GRCm39)	missense	probably damaging	1.00
R8862:Plbd2	UTSW	5	120,624,728 (GRCm39)	missense	probably damaging	1.00
R8875:Plbd2	UTSW	5	120,637,121 (GRCm39)	missense	probably damaging	1.00
R8920:Plbd2	UTSW	5	120,630,915 (GRCm39)	missense	probably damaging	1.00
R9235:Plbd2	UTSW	5	120,626,554 (GRCm39)	missense	probably benign
R9475:Plbd2	UTSW	5	120,632,445 (GRCm39)	nonsense	probably null
Z1177:Plbd2	UTSW	5	120,641,664 (GRCm39)	start gained	probably benign

Posted On

2016-08-02