Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Plbd2'

427170

Institutional Source

Beutler Lab

Gene Symbol

Plbd2

Ensembl Gene

ENSMUSG00000029598

Gene Name

phospholipase B domain containing 2

Synonyms

p76, 1300012G16Rik, 66.3 kDa

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120621958-120641688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120637147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 105 (Y105F)

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 benign
Transcript: ENSMUST00000031597
AA Change: Y105F

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

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: Y105F

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,215 (GRCm39)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,196,420 (GRCm39)	F261I	probably damaging	Het
Atm	C	A	9: 53,427,767 (GRCm39)	G448*	probably null	Het
Atmin	T	A	8: 117,684,696 (GRCm39)	D785E	probably damaging	Het
Car1	G	C	3: 14,841,364 (GRCm39)	R90G	probably damaging	Het
Cdh11	T	C	8: 103,374,178 (GRCm39)	D520G	probably benign	Het
Cers5	T	A	15: 99,649,119 (GRCm39)	K50*	probably null	Het
Chad	A	T	11: 94,459,118 (GRCm39)	D340V	probably benign	Het
Cspg5	T	C	9: 110,075,711 (GRCm39)	I68T	probably benign	Het
Fcgbpl1	C	T	7: 27,856,339 (GRCm39)	T2042M	probably damaging	Het
Fcrla	T	A	1: 170,752,991 (GRCm39)		probably benign	Het
Fer1l4	T	A	2: 155,865,177 (GRCm39)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,774,576 (GRCm39)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,676,464 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,162,869 (GRCm39)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,296,428 (GRCm39)	E2677K	possibly damaging	Het
Hydin	T	C	8: 111,291,741 (GRCm39)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,533,254 (GRCm39)	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,370,818 (GRCm39)		probably benign	Het
Msi2	G	A	11: 88,608,921 (GRCm39)		probably benign	Het
Napsa	T	A	7: 44,230,817 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,153,578 (GRCm39)	L710M	probably damaging	Het
Or10g1	T	A	14: 52,647,414 (GRCm39)	K305M	probably benign	Het
Or12d13	T	C	17: 37,647,159 (GRCm39)		probably null	Het
Or5m13	T	A	2: 85,748,934 (GRCm39)	F222I	probably benign	Het
Or6ae1	T	C	7: 139,742,564 (GRCm39)	T100A	probably benign	Het
Or9a2	C	T	6: 41,748,782 (GRCm39)	M150I	probably benign	Het
Plppr5	A	T	3: 117,456,120 (GRCm39)	I214F	possibly damaging	Het
Pramel34	A	T	5: 93,784,456 (GRCm39)	M139K	possibly damaging	Het
Ptcd3	A	G	6: 71,858,505 (GRCm39)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,530,767 (GRCm39)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,766,408 (GRCm39)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,299,846 (GRCm39)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,487,167 (GRCm39)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,310,038 (GRCm39)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,582 (GRCm39)		probably benign	Het
Sh3bgr	T	C	16: 96,007,117 (GRCm39)	I29T	possibly damaging	Het
Smg1	T	C	7: 117,794,304 (GRCm39)		probably benign	Het
Stim2	T	A	5: 54,232,712 (GRCm39)	C68*	probably null	Het
Syne2	G	A	12: 76,035,917 (GRCm39)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 164,981,249 (GRCm39)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,876,544 (GRCm39)	V353D	probably damaging	Het
Tg	T	A	15: 66,568,369 (GRCm39)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,887,066 (GRCm39)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,676,062 (GRCm39)	M373K	probably damaging	Het
Tmprss15	T	A	16: 78,868,335 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Ube2o	G	A	11: 116,435,268 (GRCm39)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,993,703 (GRCm39)	F382L	probably benign	Het
Vav2	A	T	2: 27,160,122 (GRCm39)		probably benign	Het
Vmn1r207	T	C	13: 22,910,686 (GRCm39)		noncoding transcript	Het
Zan	T	A	5: 137,435,013 (GRCm39)	I2127F	unknown	Het
Zfp748	C	A	13: 67,688,737 (GRCm39)	C841F	probably damaging	Het
Zic4	C	A	9: 91,266,253 (GRCm39)	P299Q	probably damaging	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
IGL03124:Plbd2	APN	5	120,631,142 (GRCm39)	missense	possibly damaging	0.68
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGTCTTTGAAGAACAGGGC -3'
(R):5'- AACTAGGGCTGGAGCAGTTG -3'

Sequencing Primer
(F):5'- GAAGAACAGGGCTCTTTTTCTC -3'
(R):5'- AGTTGCCTGCCACACGAG -3'

Posted On

2016-09-01