Mutagenetix > Incidental Mutation

Incidental Mutation 'R5522:Plbd1'

431610

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

043081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136589068-136638926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136594298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 317 (V317E)

Ref Sequence

ENSEMBL: ENSMUSP00000032336 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032336
AA Change: V317E

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: V317E

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

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 93.9%
20x: 85.3%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,649,704 (GRCm39)	Y121H	possibly damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,731,671 (GRCm39)		probably null	Het
Cd69	A	T	6: 129,248,379 (GRCm39)	S36T	probably damaging	Het
Ceacam5	A	T	7: 17,449,005 (GRCm39)	I124L	probably benign	Het
Cerkl	T	C	2: 79,223,328 (GRCm39)	H131R	probably benign	Het
Cfap57	A	T	4: 118,453,085 (GRCm39)	N539K	probably benign	Het
Cyp4x1	C	A	4: 114,979,174 (GRCm39)	W141L	probably damaging	Het
Dlgap1	T	C	17: 70,823,993 (GRCm39)		probably null	Het
Dnaaf9	G	A	2: 130,656,222 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,296,954 (GRCm39)	I5781T	possibly damaging	Het
Epha2	T	A	4: 141,035,867 (GRCm39)	V101E	probably damaging	Het
Exph5	T	C	9: 53,285,613 (GRCm39)	F898S	possibly damaging	Het
Fyco1	G	A	9: 123,623,836 (GRCm39)	R1398*	probably null	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Grb10	T	C	11: 11,886,746 (GRCm39)	I508V	probably benign	Het
Igf1r	C	A	7: 67,833,258 (GRCm39)	Q473K	probably damaging	Het
Ighv1-66	T	A	12: 115,556,755 (GRCm39)	D109V	probably damaging	Het
Ipmk	C	A	10: 71,199,304 (GRCm39)	T55K	probably benign	Het
Kdm2b	A	G	5: 123,087,225 (GRCm39)	Y192H	probably damaging	Het
Krt32	A	T	11: 99,977,497 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,620 (GRCm39)	L178Q	possibly damaging	Het
Mchr1	A	T	15: 81,122,211 (GRCm39)	K320N	possibly damaging	Het
Mdn1	T	C	4: 32,685,783 (GRCm39)	L858S	probably damaging	Het
Myo3a	T	A	2: 22,464,353 (GRCm39)	F198Y	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfatc1	T	C	18: 80,696,744 (GRCm39)	T647A	probably benign	Het
Nuf2	A	G	1: 169,326,453 (GRCm39)	Y433H	probably damaging	Het
Nup210l	T	C	3: 90,061,972 (GRCm39)	V717A	probably benign	Het
Or3a1b	A	G	11: 74,012,484 (GRCm39)	Y123C	probably damaging	Het
Or5h17	A	T	16: 58,820,268 (GRCm39)	L73F	probably benign	Het
Or6c35	A	T	10: 129,168,798 (GRCm39)	D16V	probably damaging	Het
Pbrm1	A	G	14: 30,811,520 (GRCm39)	Y1210C	probably damaging	Het
Pcdhb6	A	G	18: 37,467,402 (GRCm39)	I108V	probably benign	Het
Plac8	T	A	5: 100,710,584 (GRCm39)	T6S	probably benign	Het
Rars1	A	T	11: 35,708,195 (GRCm39)	Y406*	probably null	Het
Scamp3	T	C	3: 89,084,929 (GRCm39)	F11L	possibly damaging	Het
Sctr	A	G	1: 119,964,146 (GRCm39)	N142S	probably benign	Het
Sh2d4a	T	C	8: 68,749,349 (GRCm39)	S128P	probably benign	Het
Snrnp70	C	T	7: 45,026,601 (GRCm39)		probably benign	Het
Taf3	T	C	2: 9,945,816 (GRCm39)	K596R	probably damaging	Het
Tango6	T	C	8: 107,422,230 (GRCm39)		probably null	Het
Taok3	A	G	5: 117,411,822 (GRCm39)	T414A	probably benign	Het
Tmem104	G	A	11: 115,079,149 (GRCm39)		probably null	Het
Tmem231	T	A	8: 112,645,042 (GRCm39)	S155C	possibly damaging	Het
Tssk3	G	A	4: 129,383,343 (GRCm39)	R110W	possibly damaging	Het
Ugt2b37	T	C	5: 87,388,759 (GRCm39)	T485A	probably benign	Het
Unc5b	T	C	10: 60,613,974 (GRCm39)	K292E	possibly damaging	Het
Upf3a	T	A	8: 13,845,497 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,229,918 (GRCm39)	V797E	probably damaging	Het
Vcan	T	C	13: 89,839,929 (GRCm39)	T1872A	possibly damaging	Het
Vmn1r195	A	G	13: 22,463,120 (GRCm39)	M197V	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Xab2	A	T	8: 3,661,718 (GRCm39)	D578E	probably benign	Het
Xpo7	A	T	14: 70,909,090 (GRCm39)	Y810*	probably null	Het
Zcchc2	A	G	1: 105,951,426 (GRCm39)	N587S	probably benign	Het
Zfp189	C	T	4: 49,529,739 (GRCm39)	R281*	probably null	Het
Zranb1	T	C	7: 132,585,678 (GRCm39)	*735R	probably null	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
R0762:Plbd1	UTSW	6	136,618,145 (GRCm39)	missense	probably damaging	1.00
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
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'- CAGGGATATGCCTCAACTGG -3'
(R):5'- TGCCAGACCTACTGTGTATGC -3'

Sequencing Primer
(F):5'- CAGGGATATGCCTCAACTGGTTAAG -3'
(R):5'- CATGTAGACATGCAATGACCTGTG -3'

Posted On

2016-10-05