Mutagenetix > Incidental Mutation

Incidental Mutation 'R5082:Plbd2'

387184

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

042671-MU

Accession Numbers

Essential gene?

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

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120621958-120641688 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 120629249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 305 (S305*)

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 null
Transcript: ENSMUST00000031597
AA Change: S305*

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: S305*

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

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,022,694 (GRCm39)	M1015L	probably benign	Het
Aftph	T	C	11: 20,677,100 (GRCm39)	S170G	probably damaging	Het
Aox4	C	T	1: 58,270,642 (GRCm39)	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,873,541 (GRCm39)	R108Q	probably damaging	Het
Aspm	T	A	1: 139,406,414 (GRCm39)	L1767*	probably null	Het
Baz2b	T	A	2: 59,731,835 (GRCm39)	K2068*	probably null	Het
Bcl9	A	T	3: 97,117,218 (GRCm39)	V492D	probably damaging	Het
Bicc1	G	T	10: 70,776,352 (GRCm39)	H782Q	probably benign	Het
Cabin1	T	A	10: 75,574,164 (GRCm39)	I640F	probably damaging	Het
Ccng1	A	G	11: 40,643,015 (GRCm39)	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ddx1	G	T	12: 13,270,436 (GRCm39)	C668*	probably null	Het
Dhx58	G	A	11: 100,587,802 (GRCm39)	S585L	probably benign	Het
Dnttip2	A	T	3: 122,069,590 (GRCm39)	K268N	probably damaging	Het
Ecd	C	T	14: 20,374,436 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,713,473 (GRCm39)		probably null	Het
Erlin2	T	C	8: 27,523,435 (GRCm39)	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,394,424 (GRCm39)	S515G	probably benign	Het
Fcho1	T	C	8: 72,169,829 (GRCm39)	D98G	possibly damaging	Het
Fhod1	T	A	8: 106,057,145 (GRCm39)	D943V	probably damaging	Het
Gm10322	A	T	10: 59,452,090 (GRCm39)	E69V	possibly damaging	Het
Gm14295	T	A	2: 176,499,210 (GRCm39)	L19*	probably null	Het
Gm7347	T	A	5: 26,262,372 (GRCm39)	R50*	probably null	Het
Hesx1	T	C	14: 26,722,731 (GRCm39)	C19R	probably benign	Het
Hgh1	T	A	15: 76,253,752 (GRCm39)	F199L	probably benign	Het
Irak2	T	C	6: 113,649,805 (GRCm39)	F147L	probably damaging	Het
Kif22	G	A	7: 126,632,549 (GRCm39)	R254C	possibly damaging	Het
Klhl9	A	T	4: 88,639,622 (GRCm39)	S206R	probably damaging	Het
Maip1	T	C	1: 57,451,010 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,414,156 (GRCm39)	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,598,201 (GRCm39)	N369I	possibly damaging	Het
Mga	T	A	2: 119,733,825 (GRCm39)	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,842,868 (GRCm39)	W115R	probably damaging	Het
Myo3b	T	C	2: 70,088,374 (GRCm39)	V851A	probably benign	Het
Nectin2	A	T	7: 19,472,049 (GRCm39)	D113E	probably damaging	Het
Notch2	G	A	3: 98,007,690 (GRCm39)	C480Y	probably damaging	Het
Or6b6	G	A	7: 106,570,871 (GRCm39)	R227C	probably benign	Het
Or8b55	T	C	9: 38,727,441 (GRCm39)	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,537,466 (GRCm39)	N111K	probably damaging	Het
Pfkl	A	T	10: 77,832,242 (GRCm39)	V283E	probably damaging	Het
Prom1	T	C	5: 44,158,174 (GRCm39)		probably null	Het
Ptbp2	T	A	3: 119,546,613 (GRCm39)	M90L	probably benign	Het
Rai1	G	A	11: 60,076,745 (GRCm39)	E270K	possibly damaging	Het
Rbbp6	G	A	7: 122,599,925 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,101,075 (GRCm39)	M3399V	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,759,091 (GRCm39)	D231G	probably benign	Het
Smn1	T	C	13: 100,273,890 (GRCm39)		probably benign	Het
Snrnp200	C	T	2: 127,068,290 (GRCm39)	Q877*	probably null	Het
Taf2	G	T	15: 54,923,441 (GRCm39)	H279N	probably benign	Het
Tnfaip3	T	C	10: 18,881,032 (GRCm39)	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 84,883,076 (GRCm39)	M225I	probably benign	Het
Vps13a	A	T	19: 16,722,257 (GRCm39)	W352R	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
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

Predicted Primers

PCR Primer
(F):5'- GGAGTTGTCTGCACTGAACAC -3'
(R):5'- CACATTTCATTTGAAGGGATGAGAG -3'

Sequencing Primer
(F):5'- TGCACTCAGGCTCTGCAAAG -3'
(R):5'- ATTTGAAGGGATGAGAGTGGCCTC -3'

Posted On

2016-06-06