Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00851:Plcb2'

13038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcb2

Ensembl Gene

ENSMUSG00000040061

Gene Name

phospholipase C, beta 2

Synonyms

B230205M18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00851

Quality Score

Status

Chromosome

Chromosomal Location

118537998-118558919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118558732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 24 (I24T)

Ref Sequence

ENSEMBL: ENSMUSP00000124364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102524] [ENSMUST00000159756]

AlphaFold

A3KGF7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000006415

Predicted Effect

probably benign
Transcript: ENSMUST00000102524
AA Change: I24T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: I24T

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:EF-hand_like	220	311	2.5e-24	PFAM
PLCXc	312	463	2.87e-79	SMART
low complexity region	504	518	N/A	INTRINSIC
PLCYc	547	663	2.39e-67	SMART
C2	684	783	9.17e-15	SMART
low complexity region	902	925	N/A	INTRINSIC
low complexity region	929	940	N/A	INTRINSIC
Pfam:PLC-beta_C	974	1149	4.7e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159756
AA Change: I24T

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: I24T

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:EF-hand_like	197	288	7.1e-26	PFAM
PLCXc	289	440	2.87e-79	SMART
low complexity region	481	495	N/A	INTRINSIC
PLCYc	524	640	2.39e-67	SMART
C2	661	760	9.17e-15	SMART
low complexity region	879	902	N/A	INTRINSIC
low complexity region	906	917	N/A	INTRINSIC
Pfam:PLC-beta_C	946	1129	5.1e-68	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,939,230 (GRCm39)	F208S	probably damaging	Het
Ank3	T	C	10: 69,710,663 (GRCm39)	I396T	probably damaging	Het
Atp9b	T	G	18: 80,809,125 (GRCm39)	E215A	probably damaging	Het
Ces1c	T	A	8: 93,849,745 (GRCm39)	I70F	probably benign	Het
Cntnap2	T	C	6: 46,461,006 (GRCm39)	Y681H	probably benign	Het
Diaph2	A	G	X: 128,872,296 (GRCm39)	K631R	unknown	Het
Gprasp2	A	G	X: 134,744,500 (GRCm39)	T620A	probably damaging	Het
Hgd	C	T	16: 37,452,057 (GRCm39)	S403F	probably damaging	Het
Hmcn1	T	C	1: 150,458,052 (GRCm39)	K5245E	probably benign	Het
Kng2	T	C	16: 22,847,580 (GRCm39)	D27G	probably damaging	Het
Myh1	C	T	11: 67,108,736 (GRCm39)	T1384M	probably damaging	Het
Myo1f	A	T	17: 33,800,938 (GRCm39)	M260L	probably benign	Het
Prdx1	C	T	4: 116,550,147 (GRCm39)	R110C	probably benign	Het
Ptges3l	T	C	11: 101,314,616 (GRCm39)	E93G	possibly damaging	Het
Ralgapa1	T	C	12: 55,756,360 (GRCm39)	D1126G	possibly damaging	Het
Rbm48	T	C	5: 3,641,739 (GRCm39)	T169A	probably damaging	Het
Serpinb3b	T	A	1: 107,087,435 (GRCm39)	N25Y	probably damaging	Het
Tekt3	T	C	11: 62,961,226 (GRCm39)	Y132H	probably benign	Het
Tmod4	A	T	3: 95,032,891 (GRCm39)	E9V	probably damaging	Het

Other mutations in Plcb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Plcb2	APN	2	118,549,370 (GRCm39)	missense	probably damaging	1.00
IGL00715:Plcb2	APN	2	118,544,215 (GRCm39)	critical splice donor site	probably null
IGL01765:Plcb2	APN	2	118,540,749 (GRCm39)	splice site	probably benign
IGL01837:Plcb2	APN	2	118,542,407 (GRCm39)	splice site	probably null
IGL01868:Plcb2	APN	2	118,541,868 (GRCm39)	missense	probably benign	0.09
IGL01868:Plcb2	APN	2	118,540,071 (GRCm39)	missense	probably damaging	1.00
IGL02158:Plcb2	APN	2	118,541,844 (GRCm39)	missense	probably benign	0.06
IGL02447:Plcb2	APN	2	118,543,636 (GRCm39)	missense	probably damaging	1.00
IGL02490:Plcb2	APN	2	118,550,241 (GRCm39)	missense	probably damaging	0.99
IGL02691:Plcb2	APN	2	118,541,444 (GRCm39)	missense	probably benign	0.00
IGL02723:Plcb2	APN	2	118,547,500 (GRCm39)	splice site	probably benign
IGL02929:Plcb2	APN	2	118,543,715 (GRCm39)	splice site	probably benign
IGL02949:Plcb2	APN	2	118,549,590 (GRCm39)	splice site	probably null
PIT4480001:Plcb2	UTSW	2	118,553,977 (GRCm39)	missense	probably benign	0.00
R0031:Plcb2	UTSW	2	118,545,942 (GRCm39)	missense	probably benign	0.36
R0157:Plcb2	UTSW	2	118,549,022 (GRCm39)	missense	probably damaging	0.98
R0366:Plcb2	UTSW	2	118,554,928 (GRCm39)	missense	probably benign	0.01
R0376:Plcb2	UTSW	2	118,547,721 (GRCm39)	missense	probably damaging	0.99
R0570:Plcb2	UTSW	2	118,547,806 (GRCm39)	missense	probably benign	0.32
R0790:Plcb2	UTSW	2	118,542,964 (GRCm39)	splice site	probably benign
R0893:Plcb2	UTSW	2	118,555,586 (GRCm39)	splice site	probably benign
R1647:Plcb2	UTSW	2	118,554,261 (GRCm39)	missense	possibly damaging	0.51
R1648:Plcb2	UTSW	2	118,554,261 (GRCm39)	missense	possibly damaging	0.51
R1686:Plcb2	UTSW	2	118,546,168 (GRCm39)	splice site	probably benign
R2210:Plcb2	UTSW	2	118,547,984 (GRCm39)	missense	probably damaging	1.00
R2211:Plcb2	UTSW	2	118,554,015 (GRCm39)	missense	probably benign	0.05
R2251:Plcb2	UTSW	2	118,554,246 (GRCm39)	missense	probably benign	0.10
R2252:Plcb2	UTSW	2	118,554,246 (GRCm39)	missense	probably benign	0.10
R2253:Plcb2	UTSW	2	118,554,246 (GRCm39)	missense	probably benign	0.10
R2426:Plcb2	UTSW	2	118,546,130 (GRCm39)	missense	probably damaging	1.00
R3970:Plcb2	UTSW	2	118,546,171 (GRCm39)	splice site	probably benign
R4007:Plcb2	UTSW	2	118,541,274 (GRCm39)	missense	probably damaging	1.00
R4162:Plcb2	UTSW	2	118,540,068 (GRCm39)	missense	probably damaging	1.00
R4236:Plcb2	UTSW	2	118,540,047 (GRCm39)	missense	probably damaging	1.00
R4422:Plcb2	UTSW	2	118,542,484 (GRCm39)	missense	probably benign	0.28
R4772:Plcb2	UTSW	2	118,543,615 (GRCm39)	missense	probably benign	0.20
R4795:Plcb2	UTSW	2	118,541,605 (GRCm39)	missense	probably benign	0.32
R4935:Plcb2	UTSW	2	118,549,396 (GRCm39)	missense	probably damaging	1.00
R5019:Plcb2	UTSW	2	118,542,617 (GRCm39)	missense	probably benign	0.01
R5055:Plcb2	UTSW	2	118,548,703 (GRCm39)	missense	probably benign	0.06
R5452:Plcb2	UTSW	2	118,548,727 (GRCm39)	missense	probably damaging	0.98
R5622:Plcb2	UTSW	2	118,545,210 (GRCm39)	missense	probably damaging	1.00
R5752:Plcb2	UTSW	2	118,541,532 (GRCm39)	intron	probably benign
R6284:Plcb2	UTSW	2	118,547,782 (GRCm39)	missense	probably benign	0.37
R6380:Plcb2	UTSW	2	118,545,949 (GRCm39)	missense	probably damaging	1.00
R6574:Plcb2	UTSW	2	118,549,654 (GRCm39)	missense	probably damaging	0.99
R6728:Plcb2	UTSW	2	118,554,171 (GRCm39)	missense	probably damaging	1.00
R6792:Plcb2	UTSW	2	118,549,922 (GRCm39)	missense	probably damaging	1.00
R7529:Plcb2	UTSW	2	118,540,715 (GRCm39)	missense	probably damaging	1.00
R7560:Plcb2	UTSW	2	118,546,124 (GRCm39)	missense	probably damaging	0.99
R7610:Plcb2	UTSW	2	118,550,240 (GRCm39)	missense	possibly damaging	0.86
R7760:Plcb2	UTSW	2	118,541,869 (GRCm39)	missense	probably benign
R8152:Plcb2	UTSW	2	118,541,302 (GRCm39)	missense	probably benign	0.22
R8170:Plcb2	UTSW	2	118,541,934 (GRCm39)	missense	possibly damaging	0.68
R8413:Plcb2	UTSW	2	118,549,304 (GRCm39)	missense	probably damaging	1.00
R8913:Plcb2	UTSW	2	118,544,365 (GRCm39)	missense	probably damaging	1.00
R9072:Plcb2	UTSW	2	118,547,878 (GRCm39)	missense	possibly damaging	0.67
R9758:Plcb2	UTSW	2	118,545,921 (GRCm39)	missense	probably damaging	0.97
R9773:Plcb2	UTSW	2	118,541,274 (GRCm39)	missense	probably damaging	1.00
X0024:Plcb2	UTSW	2	118,542,856 (GRCm39)	missense	probably benign	0.13
Z1176:Plcb2	UTSW	2	118,553,609 (GRCm39)	missense	probably damaging	0.99
Z1177:Plcb2	UTSW	2	118,539,681 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06