Mutagenetix > Incidental Mutation

Incidental Mutation 'R8920:Plbd2'

679186

Institutional Source

Beutler Lab

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 #

R8920 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120621958-120641688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120630915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 230 (D230G)

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: D230G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: D230G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,527,580 (GRCm39)	Q160L	probably benign	Het
Apc2	A	T	10: 80,149,934 (GRCm39)	I1663L	probably benign	Het
Bahcc1	C	G	11: 120,175,331 (GRCm39)	R1802G	probably damaging	Het
C1qtnf1	T	C	11: 118,339,068 (GRCm39)	V246A	possibly damaging	Het
Cbl	A	G	9: 44,078,570 (GRCm39)	M267T	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfap46	G	T	7: 139,232,442 (GRCm39)	N840K		Het
Cfap54	T	A	10: 92,776,199 (GRCm39)		probably null	Het
Cnrip1	A	C	11: 17,005,003 (GRCm39)	K184N	unknown	Het
Dnah11	A	T	12: 118,077,674 (GRCm39)	L1273Q	probably damaging	Het
Dyrk1a	T	G	16: 94,460,488 (GRCm39)	I48R	probably benign	Het
Exoc7	T	C	11: 116,180,055 (GRCm39)	E683G	probably benign	Het
Hdac1-ps	A	G	17: 78,799,171 (GRCm39)	Y54C	probably benign	Het
Igtp	A	T	11: 58,096,999 (GRCm39)	I57F	probably damaging	Het
Inhbb	T	C	1: 119,345,107 (GRCm39)	N394S	probably damaging	Het
Jag1	T	C	2: 136,931,143 (GRCm39)	H663R	probably benign	Het
Kcna6	A	G	6: 126,716,610 (GRCm39)	F93S	probably damaging	Het
L1td1	C	A	4: 98,624,864 (GRCm39)	S353*	probably null	Het
Lgals12	T	C	19: 7,576,166 (GRCm39)	I253V	possibly damaging	Het
Lgals4	C	T	7: 28,540,289 (GRCm39)	R195C	probably benign	Het
Lrp1b	A	T	2: 42,213,610 (GRCm39)	D67E		Het
Lrrc43	T	C	5: 123,639,194 (GRCm39)	S408P	probably benign	Het
Madd	T	C	2: 91,007,168 (GRCm39)	I315V	probably benign	Het
Mdn1	T	C	4: 32,719,280 (GRCm39)	F2281S	probably damaging	Het
Med13l	A	T	5: 118,885,543 (GRCm39)	K1499*	probably null	Het
Myoc	A	G	1: 162,475,127 (GRCm39)	E226G	probably benign	Het
Nmur1	T	C	1: 86,315,577 (GRCm39)	Y96C	probably damaging	Het
Nwd2	A	T	5: 63,948,863 (GRCm39)	D145V	probably damaging	Het
Or7g18	C	A	9: 18,787,394 (GRCm39)	T254K	probably damaging	Het
Paqr8	A	T	1: 21,005,245 (GRCm39)	Q133L	probably damaging	Het
Plekha7	A	G	7: 115,744,218 (GRCm39)	I694T	probably benign	Het
Rnf139	C	T	15: 58,771,529 (GRCm39)	T518I	possibly damaging	Het
Ryr1	G	T	7: 28,789,640 (GRCm39)	S1498R	possibly damaging	Het
Senp6	T	A	9: 79,999,561 (GRCm39)	S72T	probably benign	Het
Slc12a7	C	T	13: 73,946,568 (GRCm39)	P554S	probably damaging	Het
Slc6a2	C	A	8: 93,687,990 (GRCm39)	R39S	probably benign	Het
Snrpe	T	G	1: 133,534,199 (GRCm39)	H88P	probably benign	Het
Stard9	T	A	2: 120,533,088 (GRCm39)	V3115E	probably damaging	Het
Stk39	C	T	2: 68,302,191 (GRCm39)	V11I	unknown	Het
Tapbpl	T	C	6: 125,205,214 (GRCm39)	Y244C	probably damaging	Het
Tpx2	A	G	2: 152,726,214 (GRCm39)	E393G	probably damaging	Het
Vmn2r100	A	T	17: 19,741,620 (GRCm39)	N111Y	probably damaging	Het
Vstm4	C	T	14: 32,585,615 (GRCm39)	R61C	probably damaging	Het
Washc2	T	A	6: 116,221,615 (GRCm39)	F698I	possibly damaging	Het
Zfp467	G	A	6: 48,415,414 (GRCm39)	P413S	probably benign	Het
Zfp532	G	T	18: 65,820,390 (GRCm39)	A992S	probably benign	Het
Zfp622	G	A	15: 25,996,321 (GRCm39)	W430*	probably null	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
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
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'- AACTGCAGCCTGTACTTCTTG -3'
(R):5'- GAGGTTCACCATCAAACCCTTGG -3'

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

Posted On

2021-08-02