Mutagenetix > Incidental Mutations

Incidental Mutation 'R6657:Plbd1'

526661

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136612070-136661928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136617252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 333 (M333K)

Ref Sequence

ENSEMBL: ENSMUSP00000032336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032336]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032336
AA Change: M333K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: M333K

Domain	Start	End	E-Value	Type
Pfam:Phospholip_B	16	545	3.7e-198	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204462

Meta Mutation Damage Score

0.7805

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,964,994	E405G	possibly damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mmp24	A	T	2: 155,798,179	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Odf4	T	C	11: 68,926,812	N18D	probably benign	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sfmbt1	A	G	14: 30,766,096	D8G	possibly damaging	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,250,242	F209S	probably damaging	Het

Other mutations in Plbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Plbd1	APN	6	136634470	missense	probably benign
IGL02131:Plbd1	APN	6	136661683	utr 5 prime	probably benign
R0355:Plbd1	UTSW	6	136641167	missense	possibly damaging	0.71
R0762:Plbd1	UTSW	6	136641147	missense	probably damaging	1.00
R1019:Plbd1	UTSW	6	136651905	missense	probably benign	0.03
R1456:Plbd1	UTSW	6	136613816	missense	probably benign	0.12
R1607:Plbd1	UTSW	6	136612306	missense	probably benign	0.04
R1640:Plbd1	UTSW	6	136640125	missense	probably benign	0.00
R2166:Plbd1	UTSW	6	136613790	critical splice donor site	probably null
R2909:Plbd1	UTSW	6	136634574	missense	probably damaging	1.00
R4494:Plbd1	UTSW	6	136613858	missense	probably damaging	1.00
R4529:Plbd1	UTSW	6	136651825	missense	probably benign	0.04
R4530:Plbd1	UTSW	6	136651825	missense	probably benign	0.04
R5206:Plbd1	UTSW	6	136641156	missense	probably benign	0.17
R5272:Plbd1	UTSW	6	136640158	missense	probably damaging	1.00
R5522:Plbd1	UTSW	6	136617300	missense	probably benign	0.31
R5649:Plbd1	UTSW	6	136616989	missense	probably benign	0.01
R5879:Plbd1	UTSW	6	136634505	missense	probably damaging	1.00
R5940:Plbd1	UTSW	6	136613721	intron	probably benign
R6311:Plbd1	UTSW	6	136613947	missense	probably benign	0.09
R6590:Plbd1	UTSW	6	136635600	missense	probably damaging	1.00
R6690:Plbd1	UTSW	6	136635600	missense	probably damaging	1.00
R6842:Plbd1	UTSW	6	136635614	missense	probably benign	0.05
R6938:Plbd1	UTSW	6	136616987	missense	probably benign	0.00
R7000:Plbd1	UTSW	6	136612838	missense	probably benign	0.21
R7214:Plbd1	UTSW	6	136612831	missense	probably damaging	1.00
R7654:Plbd1	UTSW	6	136651866	missense	possibly damaging	0.47
R7744:Plbd1	UTSW	6	136617246	missense	probably benign	0.00
R7870:Plbd1	UTSW	6	136617328	missense	possibly damaging	0.81
R9275:Plbd1	UTSW	6	136617288	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCTCCTATTGATGGTCACC -3'
(R):5'- CGATGACCTGTGCGTTTGTC -3'

Sequencing Primer
(F):5'- GTACCTGAAATGTTGGAAGACAC -3'
(R):5'- CTTCTTCTAGGGTTCTTGGAGTCTC -3'

Posted On

2018-07-23