Mutagenetix > Incidental Mutation

Incidental Mutation 'R3796:Plbd2'

272758

Institutional Source

Beutler Lab

Gene Symbol

Plbd2

Ensembl Gene

ENSMUSG00000029598

Gene Name

phospholipase B domain containing 2

Synonyms

66.3 kDa, p76, 1300012G16Rik

MMRRC Submission

040757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R3796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120483282-120503625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120492868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 224 (I224N)

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

probably damaging
Transcript: ENSMUST00000031597
AA Change: I224N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: I224N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,921,610		probably benign	Het
Adamts17	A	G	7: 66,839,914		probably null	Het
Alpk3	C	A	7: 81,092,753	P773T	probably benign	Het
Alppl2	A	G	1: 87,088,354		probably null	Het
Basp1	C	A	15: 25,364,312		probably benign	Het
Clec14a	G	A	12: 58,267,909	A309V	probably benign	Het
Clk2	A	G	3: 89,175,689	N424S	probably benign	Het
Cops7a	C	T	6: 124,959,832	R252H	probably damaging	Het
Csmd2	C	T	4: 128,517,595	P2469S	probably benign	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Dnajc16	G	T	4: 141,767,737	D521E	probably benign	Het
Dnm2	T	C	9: 21,505,487	V772A	probably benign	Het
Dst	G	T	1: 34,181,915	V2267F	probably benign	Het
Eif3d	A	G	15: 77,968,569	F4S	probably damaging	Het
Fgfr1	G	A	8: 25,572,437	D663N	probably damaging	Het
Hmcn1	A	G	1: 150,586,418	Y5170H	probably damaging	Het
Kcna2	T	A	3: 107,105,590	L496I	probably benign	Het
Krt8	T	C	15: 101,999,442	I233V	probably benign	Het
Mfap1b	A	G	2: 121,473,905	V3A	probably benign	Het
Phrf1	C	T	7: 141,259,918	R243*	probably null	Het
Rab19	T	C	6: 39,384,041	V41A	probably benign	Het
Rrm1	T	A	7: 102,465,703		probably null	Het
Sacs	T	C	14: 61,206,121	V1872A	possibly damaging	Het
Setd2	T	C	9: 110,549,571	V818A	probably benign	Het
Shprh	C	T	10: 11,178,757	L1037F	possibly damaging	Het
Slc24a3	A	G	2: 145,616,681	D527G	probably damaging	Het
Slc27a6	T	C	18: 58,598,751		probably benign	Het
Slc35g3	A	G	11: 69,760,917	F103L	probably benign	Het
Slc5a1	A	G	5: 33,152,652	D408G	probably damaging	Het
Spag6l	A	T	16: 16,763,052	I477N	probably damaging	Het
Srgap1	A	G	10: 122,047,132	V21A	probably benign	Het
Trim7	A	G	11: 48,845,670		probably null	Het
Trpa1	T	C	1: 14,893,264	N578S	possibly damaging	Het
Xdh	T	C	17: 73,907,658	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,915,310	V1228F	probably damaging	Het

Other mutations in Plbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Plbd2	APN	5	120485810	missense	possibly damaging	0.57
IGL01635:Plbd2	APN	5	120499049	missense	probably damaging	1.00
IGL02017:Plbd2	APN	5	120488558	missense	probably damaging	1.00
IGL02040:Plbd2	APN	5	120487442	missense	probably damaging	1.00
IGL03094:Plbd2	APN	5	120486780	missense	probably damaging	1.00
IGL03124:Plbd2	APN	5	120493077	missense	possibly damaging	0.68
R0077:Plbd2	UTSW	5	120486039	critical splice donor site	probably null
R0087:Plbd2	UTSW	5	120494485	nonsense	probably null
R0294:Plbd2	UTSW	5	120487449	splice site	probably null
R1682:Plbd2	UTSW	5	120485784	missense	probably damaging	0.97
R1818:Plbd2	UTSW	5	120487509	splice site	probably null
R4935:Plbd2	UTSW	5	120486721	missense	possibly damaging	0.95
R5082:Plbd2	UTSW	5	120491184	nonsense	probably null
R5420:Plbd2	UTSW	5	120494482	missense	probably damaging	0.98
R5441:Plbd2	UTSW	5	120499082	missense	probably benign
R5582:Plbd2	UTSW	5	120493106	missense	probably benign	0.00
R5643:Plbd2	UTSW	5	120493166	splice site	probably null
R6831:Plbd2	UTSW	5	120493066	missense	probably benign	0.03
R6859:Plbd2	UTSW	5	120503342	missense	probably benign
R7343:Plbd2	UTSW	5	120493149	missense	probably damaging	1.00
R7436:Plbd2	UTSW	5	120486796	missense	probably damaging	1.00
R7779:Plbd2	UTSW	5	120487678	missense	probably damaging	1.00
R7789:Plbd2	UTSW	5	120485754	missense	probably damaging	1.00
R8237:Plbd2	UTSW	5	120499049	missense	probably damaging	1.00
R8862:Plbd2	UTSW	5	120486663	missense	probably damaging	1.00
R8875:Plbd2	UTSW	5	120499056	missense	probably damaging	1.00
R8920:Plbd2	UTSW	5	120492850	missense	probably damaging	1.00
R9235:Plbd2	UTSW	5	120488489	missense	probably benign
R9475:Plbd2	UTSW	5	120494380	nonsense	probably null
Z1177:Plbd2	UTSW	5	120503599	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTGCAGCCTGTACTTCTTG -3'
(R):5'- GGAGGTTCACCATCAAACCCTTG -3'

Sequencing Primer
(F):5'- GCCTGTACTTCTTGATGATGCGTAAC -3'
(R):5'- GTGACATGGCGCAAAGTA -3'

Posted On

2015-03-25