Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Plbd2'

715697

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120483282-120503625 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 120494380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 186 (Q186*)

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: Q186*

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: Q186*

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	probably benign	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
R3796:Plbd2	UTSW	5	120492868	missense	probably damaging	1.00
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
Z1177:Plbd2	UTSW	5	120503599	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCAGGACTGGGCATCTG -3'
(R):5'- AGAAGTGGTAGTCCTCTAGCCC -3'

Sequencing Primer
(F):5'- AGCTGGAGGTCCGTCAAG -3'
(R):5'- AGAGAGCAGCTGGCCTGTC -3'

Posted On

2022-06-15