Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02866:Plcb3'

362337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcb3

Ensembl Gene

ENSMUSG00000024960

Gene Name

phospholipase C, beta 3

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

IGL02866

Quality Score

Status

Chromosome

Chromosomal Location

6931081-6951738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6935044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 869 (L869P)

Ref Sequence

ENSEMBL: ENSMUSP00000025912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025912]

AlphaFold

P51432

Predicted Effect

probably damaging
Transcript: ENSMUST00000025912
AA Change: L869P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: L869P

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	225	316	6.6e-23	PFAM
PLCXc	317	468	4.26e-73	SMART
low complexity region	488	515	N/A	INTRINSIC
low complexity region	553	578	N/A	INTRINSIC
PLCYc	591	707	3.88e-76	SMART
C2	728	826	4.52e-14	SMART
low complexity region	917	936	N/A	INTRINSIC
Pfam:PLC-beta_C	1029	1202	5.5e-57	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,181,914 (GRCm39)	M1118L	possibly damaging	Het
Ckmt2	A	T	13: 92,006,400 (GRCm39)	L315*	probably null	Het
Dusp28	T	A	1: 92,835,378 (GRCm39)	I154N	probably benign	Het
Ect2l	A	T	10: 18,035,565 (GRCm39)	I420N	probably damaging	Het
Erap1	C	A	13: 74,816,118 (GRCm39)	N82K	probably damaging	Het
Gsdma3	A	G	11: 98,520,585 (GRCm39)	D72G	possibly damaging	Het
Hectd1	T	A	12: 51,837,396 (GRCm39)	S720C	probably damaging	Het
Jakmip2	T	G	18: 43,685,266 (GRCm39)	E674A	probably benign	Het
Kcnt2	T	C	1: 140,352,986 (GRCm39)	S232P	probably damaging	Het
Kmo	T	C	1: 175,481,154 (GRCm39)	S291P	probably damaging	Het
Kpnb1	A	G	11: 97,068,112 (GRCm39)	V286A	probably damaging	Het
Ldah	T	A	12: 8,288,602 (GRCm39)	V83D	probably benign	Het
Mrgprb5	T	A	7: 47,817,914 (GRCm39)	I274F	probably damaging	Het
Mycbp2	A	G	14: 103,367,428 (GRCm39)	I988T	probably damaging	Het
Myh3	A	G	11: 66,979,849 (GRCm39)	E596G	probably benign	Het
Ndufs1	T	C	1: 63,186,300 (GRCm39)	I52V	probably benign	Het
Nhsl1	G	T	10: 18,403,355 (GRCm39)	D1363Y	probably damaging	Het
Or14c41	T	A	7: 86,234,901 (GRCm39)	C139*	probably null	Het
Or51f1e	C	A	7: 102,747,590 (GRCm39)	T214K	probably damaging	Het
Or5b98	A	G	19: 12,931,719 (GRCm39)	I255M	possibly damaging	Het
Or6c66	A	C	10: 129,461,575 (GRCm39)	Y118*	probably null	Het
Pcdhb19	T	C	18: 37,632,163 (GRCm39)	S653P	possibly damaging	Het
Prkdc	T	A	16: 15,649,191 (GRCm39)	F3722I	probably damaging	Het
Ptprd	T	C	4: 75,968,674 (GRCm39)	K206R	probably damaging	Het
Pwwp3b	T	C	X: 138,135,753 (GRCm39)	V97A	probably benign	Het
Robo3	C	A	9: 37,333,602 (GRCm39)	R703L	possibly damaging	Het
Tob1	A	T	11: 94,104,883 (GRCm39)	M140L	possibly damaging	Het
Ubc	A	T	5: 125,464,486 (GRCm39)	D280E	probably benign	Het
Wasf3	C	A	5: 146,405,131 (GRCm39)	Q364K	probably benign	Het

Other mutations in Plcb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Plcb3	APN	19	6,932,690 (GRCm39)	missense	probably benign	0.27
IGL01370:Plcb3	APN	19	6,940,192 (GRCm39)	missense	probably damaging	0.99
IGL01385:Plcb3	APN	19	6,935,276 (GRCm39)	missense	probably benign
IGL01511:Plcb3	APN	19	6,933,211 (GRCm39)	missense	probably damaging	0.99
IGL02182:Plcb3	APN	19	6,946,988 (GRCm39)	missense	probably benign	0.22
IGL02240:Plcb3	APN	19	6,935,448 (GRCm39)	splice site	probably benign
IGL02350:Plcb3	APN	19	6,935,546 (GRCm39)	missense	probably damaging	1.00
IGL02357:Plcb3	APN	19	6,935,546 (GRCm39)	missense	probably damaging	1.00
IGL02550:Plcb3	APN	19	6,937,544 (GRCm39)	nonsense	probably null
IGL03180:Plcb3	APN	19	6,933,521 (GRCm39)	missense	probably benign	0.44
IGL03327:Plcb3	APN	19	6,932,420 (GRCm39)	missense	probably benign
IGL03346:Plcb3	APN	19	6,932,420 (GRCm39)	missense	probably benign
Multifarious	UTSW	19	6,932,071 (GRCm39)	critical splice donor site	probably null
R0042:Plcb3	UTSW	19	6,943,788 (GRCm39)	missense	probably damaging	1.00
R0125:Plcb3	UTSW	19	6,936,276 (GRCm39)	missense	probably damaging	1.00
R0240:Plcb3	UTSW	19	6,940,363 (GRCm39)	missense	probably benign	0.16
R0240:Plcb3	UTSW	19	6,940,363 (GRCm39)	missense	probably benign	0.16
R0724:Plcb3	UTSW	19	6,940,760 (GRCm39)	missense	probably damaging	1.00
R0781:Plcb3	UTSW	19	6,939,281 (GRCm39)	nonsense	probably null
R0945:Plcb3	UTSW	19	6,932,246 (GRCm39)	missense	probably damaging	1.00
R1110:Plcb3	UTSW	19	6,939,281 (GRCm39)	nonsense	probably null
R1414:Plcb3	UTSW	19	6,940,385 (GRCm39)	missense	probably damaging	1.00
R1454:Plcb3	UTSW	19	6,932,414 (GRCm39)	missense	possibly damaging	0.64
R1533:Plcb3	UTSW	19	6,935,041 (GRCm39)	missense	possibly damaging	0.70
R1652:Plcb3	UTSW	19	6,932,664 (GRCm39)	missense	probably benign	0.00
R1795:Plcb3	UTSW	19	6,933,381 (GRCm39)	unclassified	probably benign
R1870:Plcb3	UTSW	19	6,940,353 (GRCm39)	missense	probably benign	0.04
R1934:Plcb3	UTSW	19	6,941,977 (GRCm39)	missense	probably damaging	1.00
R3980:Plcb3	UTSW	19	6,943,803 (GRCm39)	missense	probably damaging	1.00
R4397:Plcb3	UTSW	19	6,943,193 (GRCm39)	missense	probably damaging	0.96
R4533:Plcb3	UTSW	19	6,933,640 (GRCm39)	missense	probably benign	0.08
R4576:Plcb3	UTSW	19	6,936,415 (GRCm39)	splice site	probably benign
R4815:Plcb3	UTSW	19	6,940,352 (GRCm39)	missense	possibly damaging	0.59
R4903:Plcb3	UTSW	19	6,933,211 (GRCm39)	missense	probably damaging	0.99
R5093:Plcb3	UTSW	19	6,943,578 (GRCm39)	missense	probably damaging	1.00
R5555:Plcb3	UTSW	19	6,943,587 (GRCm39)	missense	probably benign	0.19
R5593:Plcb3	UTSW	19	6,932,117 (GRCm39)	missense	possibly damaging	0.94
R5626:Plcb3	UTSW	19	6,932,643 (GRCm39)	missense	probably benign	0.24
R5661:Plcb3	UTSW	19	6,940,588 (GRCm39)	missense	probably damaging	1.00
R5713:Plcb3	UTSW	19	6,935,060 (GRCm39)	missense	probably damaging	0.99
R5741:Plcb3	UTSW	19	6,931,790 (GRCm39)	nonsense	probably null
R6025:Plcb3	UTSW	19	6,933,547 (GRCm39)	missense	probably benign	0.03
R6063:Plcb3	UTSW	19	6,940,202 (GRCm39)	missense	possibly damaging	0.69
R6155:Plcb3	UTSW	19	6,943,533 (GRCm39)	missense	probably damaging	1.00
R6157:Plcb3	UTSW	19	6,943,533 (GRCm39)	missense	probably damaging	1.00
R6178:Plcb3	UTSW	19	6,932,071 (GRCm39)	critical splice donor site	probably null
R7085:Plcb3	UTSW	19	6,937,501 (GRCm39)	missense	possibly damaging	0.80
R7117:Plcb3	UTSW	19	6,941,746 (GRCm39)	missense	probably damaging	1.00
R7134:Plcb3	UTSW	19	6,942,698 (GRCm39)	missense	probably damaging	1.00
R7153:Plcb3	UTSW	19	6,935,452 (GRCm39)	critical splice donor site	probably null
R7316:Plcb3	UTSW	19	6,943,753 (GRCm39)	critical splice donor site	probably null
R7366:Plcb3	UTSW	19	6,939,389 (GRCm39)	missense	probably benign
R7399:Plcb3	UTSW	19	6,940,235 (GRCm39)	missense	probably benign
R7736:Plcb3	UTSW	19	6,946,991 (GRCm39)	missense	probably benign	0.00
R8057:Plcb3	UTSW	19	6,936,267 (GRCm39)	missense	probably damaging	0.99
R8057:Plcb3	UTSW	19	6,932,463 (GRCm39)	missense	probably benign
R8376:Plcb3	UTSW	19	6,944,071 (GRCm39)	missense	probably damaging	0.99
R9103:Plcb3	UTSW	19	6,936,288 (GRCm39)	missense	probably benign	0.06
R9292:Plcb3	UTSW	19	6,942,042 (GRCm39)	missense	probably damaging	1.00
R9366:Plcb3	UTSW	19	6,937,658 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18