Mutagenetix > Incidental Mutation

Incidental Mutation 'R4494:Plbd1'

330886

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

041582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136589068-136638926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136590856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 437 (I437V)

Ref Sequence

ENSEMBL: ENSMUSP00000032336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032335] [ENSMUST00000032336]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032335

SMART Domains

Protein: ENSMUSP00000032335
Gene: ENSMUSG00000030213

Domain	Start	End	E-Value	Type
internal_repeat_1	123	144	9.59e-5	PROSPERO
internal_repeat_1	143	164	9.59e-5	PROSPERO
low complexity region	184	212	N/A	INTRINSIC
low complexity region	246	262	N/A	INTRINSIC
low complexity region	284	303	N/A	INTRINSIC
low complexity region	409	427	N/A	INTRINSIC
low complexity region	567	582	N/A	INTRINSIC
Pfam:ATF7IP_BD	598	813	5.5e-62	PFAM
low complexity region	864	889	N/A	INTRINSIC
PDB:2RPQ\|B	974	1017	5e-7	PDB
low complexity region	1022	1036	N/A	INTRINSIC
low complexity region	1038	1050	N/A	INTRINSIC
low complexity region	1101	1112	N/A	INTRINSIC
low complexity region	1168	1192	N/A	INTRINSIC
FN3	1194	1288	3.4e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000032336
AA Change: I437V

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

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: I437V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	T	A	6: 136,540,747 (GRCm39)		probably null	Het
Cacna1b	T	C	2: 24,542,950 (GRCm39)	T1301A	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,842,770 (GRCm39)	D262G	probably damaging	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Ccdc170	T	C	10: 4,464,128 (GRCm39)	Y36H	probably damaging	Het
Cd177	A	T	7: 24,451,428 (GRCm39)	S492T	probably benign	Het
Chrna4	T	A	2: 180,670,281 (GRCm39)	I492F	probably damaging	Het
Cit	T	C	5: 116,012,043 (GRCm39)	Y217H	probably damaging	Het
Cnbd1	T	A	4: 19,098,150 (GRCm39)	D90V	probably benign	Het
Cryba2	A	G	1: 74,929,789 (GRCm39)	F116S	probably damaging	Het
Ctbp1	T	C	5: 33,408,213 (GRCm39)	T240A	possibly damaging	Het
D130043K22Rik	C	T	13: 25,055,339 (GRCm39)	S501L	probably benign	Het
Ddhd2	A	G	8: 26,228,261 (GRCm39)	F553S	probably benign	Het
Ddr2	C	A	1: 169,815,983 (GRCm39)	G575W	probably damaging	Het
Dip2c	T	C	13: 9,621,098 (GRCm39)	V537A	possibly damaging	Het
Dnah12	C	T	14: 26,593,812 (GRCm39)	A752V	probably damaging	Het
Dnah7a	T	C	1: 53,488,197 (GRCm39)	D3260G	probably benign	Het
Efemp2	T	A	19: 5,530,339 (GRCm39)	C309S	probably damaging	Het
Gse1	G	A	8: 121,297,553 (GRCm39)		probably benign	Het
Hspa4l	T	C	3: 40,707,636 (GRCm39)	S53P	possibly damaging	Het
Ighv5-4	T	C	12: 113,561,204 (GRCm39)	D72G	probably benign	Het
Igkv15-103	A	G	6: 68,414,780 (GRCm39)	N73S	probably benign	Het
Igsf11	T	G	16: 38,831,703 (GRCm39)	N183K	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk18	T	C	19: 59,223,263 (GRCm39)	V136A	probably damaging	Het
Krt75	A	T	15: 101,480,136 (GRCm39)	Y240*	probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Man2a2	C	T	7: 80,009,023 (GRCm39)		probably null	Het
Mme	A	G	3: 63,254,613 (GRCm39)	N491S	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msi2	T	C	11: 88,608,185 (GRCm39)	D39G	possibly damaging	Het
Naa60	T	A	16: 3,718,585 (GRCm39)	C122*	probably null	Het
Nes	A	G	3: 87,884,120 (GRCm39)	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Nme6	C	T	9: 109,671,122 (GRCm39)	L121F	probably damaging	Het
Or4k47	T	A	2: 111,451,493 (GRCm39)	K309*	probably null	Het
Otud1	C	T	2: 19,664,146 (GRCm39)	T425I	probably damaging	Het
Pimreg	T	C	11: 71,935,964 (GRCm39)	V149A	probably benign	Het
Prlhr	A	T	19: 60,455,519 (GRCm39)	M349K	probably benign	Het
Slc1a3	G	A	15: 8,668,579 (GRCm39)	T462I	probably damaging	Het
Slc25a26	A	G	6: 94,575,384 (GRCm39)	T198A	probably damaging	Het
Stkld1	A	G	2: 26,836,638 (GRCm39)	N268S	probably benign	Het
Svop	T	C	5: 114,183,688 (GRCm39)	T195A	probably damaging	Het
Syt6	A	G	3: 103,492,946 (GRCm39)	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,928,317 (GRCm39)	I85V	probably benign	Het
Tent5a	A	G	9: 85,207,100 (GRCm39)	S233P	probably damaging	Het
Tprn	T	C	2: 25,158,904 (GRCm39)	S643P	probably damaging	Het
Ush2a	C	T	1: 188,285,473 (GRCm39)	T2003I	possibly damaging	Het
Vmn2r17	T	A	5: 109,576,335 (GRCm39)	V402E	probably damaging	Het
Vmn2r3	C	G	3: 64,182,692 (GRCm39)	G336R	probably damaging	Het
Wdr89	A	T	12: 75,679,521 (GRCm39)	D244E	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
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
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'- GTTGAGCCATATGTGTACAGC -3'
(R):5'- AGAAGGACCACTGTGACCTG -3'

Sequencing Primer
(F):5'- GAGCCATATGTGTACAGCATTAG -3'
(R):5'- TGCAGGTTCATTTCCTAAGTAATTAC -3'

Posted On

2015-07-21