Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Plcb2'

46350

Institutional Source

Beutler Lab

Gene Symbol

Plcb2

Ensembl Gene

ENSMUSG00000040061

Gene Name

phospholipase C, beta 2

Synonyms

B230205M18Rik

MMRRC Submission

038761-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118537998-118558919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118547806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 474 (W474R)

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: W497R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: W497R

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

noncoding transcript
Transcript: ENSMUST00000127248

Predicted Effect

probably benign
Transcript: ENSMUST00000159756
AA Change: W474R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: W474R

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

Meta Mutation Damage Score

0.0681

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,729,733 (GRCm39)		probably benign	Het
Aadacl3	C	T	4: 144,190,130 (GRCm39)	W57*	probably null	Het
Abca2	G	T	2: 25,337,417 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,593,373 (GRCm39)	I257V	probably benign	Het
Adamts2	A	G	11: 50,666,963 (GRCm39)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,696,135 (GRCm39)	F341L	probably damaging	Het
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,751,751 (GRCm39)	S365P	possibly damaging	Het
Atrn	G	A	2: 130,822,054 (GRCm39)	V916I	probably benign	Het
Blmh	T	C	11: 76,856,651 (GRCm39)	V82A	probably damaging	Het
C1ra	A	T	6: 124,490,664 (GRCm39)	Y19F	probably benign	Het
Cactin	A	G	10: 81,159,067 (GRCm39)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,787,566 (GRCm39)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,631,110 (GRCm39)	E250G	probably benign	Het
Col17a1	A	T	19: 47,654,317 (GRCm39)	S647T	possibly damaging	Het
Cope	T	A	8: 70,759,181 (GRCm39)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,403,435 (GRCm39)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,557,434 (GRCm39)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,146,839 (GRCm39)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,035,935 (GRCm39)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,265,114 (GRCm39)	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,186,247 (GRCm39)	S85L	probably benign	Het
Fanca	A	T	8: 124,033,169 (GRCm39)	S292R	probably benign	Het
Fanci	G	A	7: 79,093,711 (GRCm39)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,245,640 (GRCm39)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,536,456 (GRCm39)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,502,031 (GRCm39)	V147A	probably null	Het
Fnbp4	A	G	2: 90,583,301 (GRCm39)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,666,844 (GRCm39)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,618,552 (GRCm39)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,165,541 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,730,480 (GRCm39)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,630,460 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,237,785 (GRCm39)		probably null	Het
H2-Q1	A	G	17: 35,540,373 (GRCm39)	T153A	possibly damaging	Het
Ina	A	C	19: 47,011,938 (GRCm39)	E452A	probably benign	Het
Kars1	A	G	8: 112,721,494 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,595,291 (GRCm39)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,745,944 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,390,878 (GRCm39)	C3006*	probably null	Het
Lyst	T	C	13: 13,883,971 (GRCm39)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm39)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,189,161 (GRCm39)	S857P	probably damaging	Het
Nos2	A	G	11: 78,826,187 (GRCm39)	I153M	possibly damaging	Het
Or4n4	T	G	14: 50,519,370 (GRCm39)	L113F	probably benign	Het
Otof	A	G	5: 30,529,225 (GRCm39)		probably benign	Het
Patl2	A	G	2: 121,955,789 (GRCm39)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,389,580 (GRCm39)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,247,941 (GRCm39)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,520,710 (GRCm39)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,210,775 (GRCm39)	M761L	probably benign	Het
Pi16	A	T	17: 29,538,189 (GRCm39)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,603,471 (GRCm39)		probably benign	Het
Psapl1	A	G	5: 36,361,624 (GRCm39)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 46,728,681 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,435,165 (GRCm39)	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,566,476 (GRCm39)	C168*	probably null	Het
Rhag	A	G	17: 41,139,804 (GRCm39)		probably benign	Het
Rhebl1	C	T	15: 98,779,034 (GRCm39)	V17I	probably benign	Het
Rnf130	A	T	11: 49,986,703 (GRCm39)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,642,952 (GRCm39)	L60P	probably damaging	Het
Rspry1	T	C	8: 95,356,420 (GRCm39)	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,071,621 (GRCm39)	V421M	probably damaging	Het
Sap30	T	C	8: 57,936,000 (GRCm39)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,581,042 (GRCm39)		probably benign	Het
Slc1a2	G	A	2: 102,586,352 (GRCm39)	V319M	probably damaging	Het
Smad2	T	C	18: 76,422,250 (GRCm39)		probably benign	Het
Spdya	T	C	17: 71,869,585 (GRCm39)		probably null	Het
Stk39	G	A	2: 68,240,392 (GRCm39)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,626,382 (GRCm39)		probably benign	Het
Tas2r122	T	C	6: 132,688,774 (GRCm39)	K40E	probably damaging	Het
Tph2	G	T	10: 115,010,039 (GRCm39)		probably benign	Het
Trip12	G	A	1: 84,729,269 (GRCm39)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,845,701 (GRCm39)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,760,681 (GRCm39)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,315,546 (GRCm39)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,347,682 (GRCm39)	S766P	probably benign	Het
Usp21	G	A	1: 171,111,319 (GRCm39)		probably benign	Het
Usp48	T	A	4: 137,360,437 (GRCm39)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,804,583 (GRCm39)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,760,937 (GRCm39)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,544,379 (GRCm39)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,487,988 (GRCm39)	E817G	probably benign	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
IGL00851:Plcb2	APN	2	118,558,732 (GRCm39)	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCCTTTGCCTGACTCCTAAGC -3'
(R):5'- ACCAGTTTTCTGGGCCAGCATC -3'

Sequencing Primer
(F):5'- TGACAAGGCTGGACATTTCC -3'
(R):5'- GCATCCCCCAGCAAGAAG -3'

Posted On

2013-06-11