Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Plbd1'

72451

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136589068-136638926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136618145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 24 (V24M)

Ref Sequence

ENSEMBL: ENSMUSP00000144967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032336] [ENSMUST00000205021]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032336
AA Change: V136M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: V136M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137139

Predicted Effect

probably damaging
Transcript: ENSMUST00000205021
AA Change: V24M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144967
Gene: ENSMUSG00000030214
AA Change: V24M

Domain	Start	End	E-Value	Type
Pfam:Phospholip_B	1	75	3.8e-15	PFAM

Meta Mutation Damage Score

0.3721

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dcc	T	A	18: 71,475,776 (GRCm39)		probably benign	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Ephx2	A	T	14: 66,339,628 (GRCm39)	F199I	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Gars1	T	G	6: 55,054,565 (GRCm39)		probably null	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Krt77	T	C	15: 101,769,561 (GRCm39)		probably null	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tfb2m	T	C	1: 179,373,398 (GRCm39)	E100G	probably damaging	Het
Tom1	C	T	8: 75,778,934 (GRCm39)		probably benign	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Plbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Plbd1	APN	6	136,611,468 (GRCm39)	missense	probably benign
IGL02131:Plbd1	APN	6	136,638,681 (GRCm39)	utr 5 prime	probably benign
R0355:Plbd1	UTSW	6	136,618,165 (GRCm39)	missense	possibly damaging	0.71
R1019:Plbd1	UTSW	6	136,628,903 (GRCm39)	missense	probably benign	0.03
R1456:Plbd1	UTSW	6	136,590,814 (GRCm39)	missense	probably benign	0.12
R1607:Plbd1	UTSW	6	136,589,304 (GRCm39)	missense	probably benign	0.04
R1640:Plbd1	UTSW	6	136,617,123 (GRCm39)	missense	probably benign	0.00
R2166:Plbd1	UTSW	6	136,590,788 (GRCm39)	critical splice donor site	probably null
R2909:Plbd1	UTSW	6	136,611,572 (GRCm39)	missense	probably damaging	1.00
R4494:Plbd1	UTSW	6	136,590,856 (GRCm39)	missense	probably damaging	1.00
R4529:Plbd1	UTSW	6	136,628,823 (GRCm39)	missense	probably benign	0.04
R4530:Plbd1	UTSW	6	136,628,823 (GRCm39)	missense	probably benign	0.04
R5206:Plbd1	UTSW	6	136,618,154 (GRCm39)	missense	probably benign	0.17
R5272:Plbd1	UTSW	6	136,617,156 (GRCm39)	missense	probably damaging	1.00
R5522:Plbd1	UTSW	6	136,594,298 (GRCm39)	missense	probably benign	0.31
R5649:Plbd1	UTSW	6	136,593,987 (GRCm39)	missense	probably benign	0.01
R5879:Plbd1	UTSW	6	136,611,503 (GRCm39)	missense	probably damaging	1.00
R5940:Plbd1	UTSW	6	136,590,719 (GRCm39)	intron	probably benign
R6311:Plbd1	UTSW	6	136,590,945 (GRCm39)	missense	probably benign	0.09
R6590:Plbd1	UTSW	6	136,612,598 (GRCm39)	missense	probably damaging	1.00
R6657:Plbd1	UTSW	6	136,594,250 (GRCm39)	missense	probably damaging	0.99
R6690:Plbd1	UTSW	6	136,612,598 (GRCm39)	missense	probably damaging	1.00
R6842:Plbd1	UTSW	6	136,612,612 (GRCm39)	missense	probably benign	0.05
R6938:Plbd1	UTSW	6	136,593,985 (GRCm39)	missense	probably benign	0.00
R7000:Plbd1	UTSW	6	136,589,836 (GRCm39)	missense	probably benign	0.21
R7214:Plbd1	UTSW	6	136,589,829 (GRCm39)	missense	probably damaging	1.00
R7654:Plbd1	UTSW	6	136,628,864 (GRCm39)	missense	possibly damaging	0.47
R7744:Plbd1	UTSW	6	136,594,244 (GRCm39)	missense	probably benign	0.00
R7870:Plbd1	UTSW	6	136,594,326 (GRCm39)	missense	possibly damaging	0.81
R9275:Plbd1	UTSW	6	136,594,286 (GRCm39)	missense	probably damaging	0.99
R9443:Plbd1	UTSW	6	136,611,555 (GRCm39)	missense	probably damaging	1.00
R9498:Plbd1	UTSW	6	136,589,244 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TGCCTGATTCAGCAGAACACACAAG -3'
(R):5'- ACTGGTGGGCATTCCAGTTAAGC -3'

Sequencing Primer
(F):5'- ggacacggaggcaagag -3'
(R):5'- GCATTCCAGTTAAGCTGAAAGTG -3'

Posted On

2013-09-30