Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Plcb1'

598936

Institutional Source

Beutler Lab

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

MMRRC Submission

045833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R7777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134786067-135475258 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135220757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 96 (G96R)

Ref Sequence

ENSEMBL: ENSMUSP00000105743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070724] [ENSMUST00000110116] [ENSMUST00000131552]

AlphaFold

Q9Z1B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070724
AA Change: G96R

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: G96R

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	224	315	2.2e-26	PFAM
PLCXc	316	467	2.85e-74	SMART
low complexity region	491	501	N/A	INTRINSIC
PLCYc	540	656	2e-69	SMART
C2	677	776	1.55e-12	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:DUF1154	903	946	1.3e-7	PFAM
low complexity region	967	984	N/A	INTRINSIC
Pfam:PLC-beta_C	997	1155	1.9e-64	PFAM
low complexity region	1157	1168	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110116
AA Change: G96R

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: G96R

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	224	315	4.1e-26	PFAM
PLCXc	316	467	2.85e-74	SMART
low complexity region	491	501	N/A	INTRINSIC
PLCYc	540	656	2e-69	SMART
C2	677	776	1.55e-12	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:DUF1154	903	946	1.1e-9	PFAM
low complexity region	967	984	N/A	INTRINSIC
Pfam:PLC-beta_C	1003	1176	2.9e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131552
AA Change: G96R

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: G96R

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	224	315	3.9e-26	PFAM
PLCXc	316	467	2.85e-74	SMART
low complexity region	491	501	N/A	INTRINSIC
PLCYc	540	656	2e-69	SMART
C2	677	776	1.55e-12	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:DUF1154	903	946	1e-9	PFAM
low complexity region	967	984	N/A	INTRINSIC
Pfam:PLC-beta_C	1003	1148	8e-51	PFAM
low complexity region	1157	1168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201485

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	C	T	4: 42,970,171 (GRCm38)	Q53*	probably null	Het
1700022I11Rik	T	C	4: 42,971,095 (GRCm38)	S143P	probably benign	Het
Adam6b	C	T	12: 113,490,138 (GRCm38)	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,945,373 (GRCm38)	T353A	probably damaging	Het
Cabyr	A	G	18: 12,744,771 (GRCm38)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,537,959 (GRCm38)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,771,636 (GRCm38)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,574 (GRCm38)	I105V	probably benign	Het
Fras1	A	G	5: 96,752,904 (GRCm38)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,071,298 (GRCm38)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,162,948 (GRCm38)	Y164*	probably null	Het
Gm4353	T	G	7: 116,083,763 (GRCm38)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,577,251 (GRCm38)		probably null	Het
Ism2	T	A	12: 87,286,884 (GRCm38)		probably null	Het
Jak2	C	T	19: 29,276,868 (GRCm38)	T196I	probably benign	Het
Lcor	T	G	19: 41,558,795 (GRCm38)	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,235,669 (GRCm38)	A66S	possibly damaging	Het
Lysmd4	T	A	7: 67,223,698 (GRCm38)	M27K	possibly damaging	Het
Muc3	G	A	5: 137,146,716 (GRCm38)		silent	Het
Olfr1023	A	G	2: 85,887,607 (GRCm38)	E269G	possibly damaging	Het
Olfr539	T	A	7: 140,667,941 (GRCm38)	I211N	probably benign	Het
Olfr747	A	T	14: 50,680,804 (GRCm38)	Y277N	probably damaging	Het
Oscp1	T	C	4: 126,064,981 (GRCm38)		probably null	Het
Pira2	A	T	7: 3,841,697 (GRCm38)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,416,860 (GRCm38)	P186Q	probably damaging	Het
Plcd3	G	C	11: 103,074,655 (GRCm38)	R535G	probably benign	Het
Plcg1	A	G	2: 160,754,603 (GRCm38)	M681V	possibly damaging	Het
Polr1b	C	A	2: 129,125,544 (GRCm38)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,739,188 (GRCm38)	D836E	probably benign	Het
Pramef8	T	C	4: 143,417,761 (GRCm38)	Y226H	possibly damaging	Het
Prkag1	A	T	15: 98,814,597 (GRCm38)	I149N	probably damaging	Het
Prkci	A	T	3: 31,050,213 (GRCm38)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,552,765 (GRCm38)	W276*	probably null	Het
Ptprn	T	C	1: 75,252,302 (GRCm38)	D823G	possibly damaging	Het
Radil	A	C	5: 142,543,548 (GRCm38)	F131C	probably damaging	Het
Rif1	A	G	2: 52,116,356 (GRCm38)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,411,713 (GRCm38)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,523,773 (GRCm38)	K561*	probably null	Het
Tbx5	A	C	5: 119,883,167 (GRCm38)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,660,600 (GRCm38)		probably null	Het
Tnfaip8l2	T	C	3: 95,139,996 (GRCm38)	*185W	probably null	Het
Tpst2	A	G	5: 112,309,694 (GRCm38)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,490,753 (GRCm38)	S801T	probably damaging	Het
Usp34	A	G	11: 23,382,638 (GRCm38)	S1141G		Het
Uts2r	A	G	11: 121,161,453 (GRCm38)	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,378,315 (GRCm38)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,966,050 (GRCm38)	M223K	probably benign	Het
Wdr64	T	C	1: 175,789,998 (GRCm38)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,317,255 (GRCm38)	F80S	possibly damaging	Het

Other mutations in Plcb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Plcb1	APN	2	135,251,756 (GRCm38)	missense	possibly damaging	0.66
IGL01152:Plcb1	APN	2	134,813,659 (GRCm38)	missense	probably damaging	1.00
IGL01945:Plcb1	APN	2	135,220,791 (GRCm38)	missense	probably benign	0.03
IGL01999:Plcb1	APN	2	135,346,318 (GRCm38)	missense	probably damaging	1.00
IGL02109:Plcb1	APN	2	134,786,559 (GRCm38)	missense	probably damaging	1.00
IGL02153:Plcb1	APN	2	135,387,853 (GRCm38)	missense	probably benign	0.08
IGL02207:Plcb1	APN	2	135,387,171 (GRCm38)	missense	probably damaging	1.00
IGL02566:Plcb1	APN	2	135,472,263 (GRCm38)	missense	probably benign	0.17
IGL02590:Plcb1	APN	2	135,294,864 (GRCm38)	missense	probably benign	0.08
IGL02640:Plcb1	APN	2	135,220,859 (GRCm38)	splice site	probably benign
IGL02926:Plcb1	APN	2	135,364,762 (GRCm38)	splice site	probably benign
IGL03071:Plcb1	APN	2	135,387,802 (GRCm38)	missense	probably damaging	1.00
IGL03236:Plcb1	APN	2	135,346,306 (GRCm38)	missense	probably damaging	1.00
IGL03252:Plcb1	APN	2	135,370,428 (GRCm38)	missense	probably benign
IGL03387:Plcb1	APN	2	134,813,686 (GRCm38)	splice site	probably benign
BB001:Plcb1	UTSW	2	135,359,693 (GRCm38)	missense	probably benign	0.00
BB011:Plcb1	UTSW	2	135,359,693 (GRCm38)	missense	probably benign	0.00
R0024:Plcb1	UTSW	2	135,362,425 (GRCm38)	missense	probably benign	0.06
R0024:Plcb1	UTSW	2	135,362,425 (GRCm38)	missense	probably benign	0.06
R0053:Plcb1	UTSW	2	135,294,915 (GRCm38)	missense	probably benign	0.33
R0053:Plcb1	UTSW	2	135,294,915 (GRCm38)	missense	probably benign	0.33
R0308:Plcb1	UTSW	2	134,813,614 (GRCm38)	missense	probably benign	0.01
R0415:Plcb1	UTSW	2	135,337,499 (GRCm38)	missense	probably damaging	1.00
R0624:Plcb1	UTSW	2	135,294,911 (GRCm38)	missense	possibly damaging	0.81
R0898:Plcb1	UTSW	2	135,387,143 (GRCm38)	missense	possibly damaging	0.73
R1071:Plcb1	UTSW	2	135,325,657 (GRCm38)	missense	possibly damaging	0.64
R1615:Plcb1	UTSW	2	135,362,444 (GRCm38)	splice site	probably benign
R1617:Plcb1	UTSW	2	135,337,441 (GRCm38)	missense	probably damaging	1.00
R1785:Plcb1	UTSW	2	135,325,667 (GRCm38)	nonsense	probably null
R1866:Plcb1	UTSW	2	135,344,173 (GRCm38)	missense	probably benign	0.01
R1869:Plcb1	UTSW	2	135,311,014 (GRCm38)	missense	probably benign	0.02
R1902:Plcb1	UTSW	2	134,813,613 (GRCm38)	missense	possibly damaging	0.93
R1938:Plcb1	UTSW	2	135,386,302 (GRCm38)	missense	probably damaging	1.00
R2016:Plcb1	UTSW	2	135,362,420 (GRCm38)	missense	possibly damaging	0.94
R2017:Plcb1	UTSW	2	135,362,420 (GRCm38)	missense	possibly damaging	0.94
R2131:Plcb1	UTSW	2	135,325,667 (GRCm38)	nonsense	probably null
R2132:Plcb1	UTSW	2	135,325,667 (GRCm38)	nonsense	probably null
R2133:Plcb1	UTSW	2	135,325,667 (GRCm38)	nonsense	probably null
R2164:Plcb1	UTSW	2	135,346,330 (GRCm38)	missense	possibly damaging	0.87
R2419:Plcb1	UTSW	2	135,262,100 (GRCm38)	splice site	probably benign
R2429:Plcb1	UTSW	2	135,337,442 (GRCm38)	missense	probably damaging	0.99
R2508:Plcb1	UTSW	2	135,260,508 (GRCm38)	missense	probably benign	0.27
R3161:Plcb1	UTSW	2	135,335,482 (GRCm38)	missense	probably benign	0.03
R3870:Plcb1	UTSW	2	135,325,671 (GRCm38)	missense	probably damaging	0.99
R4191:Plcb1	UTSW	2	135,345,090 (GRCm38)	missense	probably damaging	1.00
R4239:Plcb1	UTSW	2	135,344,158 (GRCm38)	missense	probably damaging	0.99
R4552:Plcb1	UTSW	2	135,335,493 (GRCm38)	missense	probably benign	0.44
R4553:Plcb1	UTSW	2	135,335,493 (GRCm38)	missense	probably benign	0.44
R4720:Plcb1	UTSW	2	135,251,747 (GRCm38)	missense	possibly damaging	0.70
R4946:Plcb1	UTSW	2	135,345,095 (GRCm38)	missense	probably benign	0.01
R5012:Plcb1	UTSW	2	135,333,400 (GRCm38)	missense	probably null	0.97
R5151:Plcb1	UTSW	2	135,262,245 (GRCm38)	missense	probably benign	0.28
R5320:Plcb1	UTSW	2	135,252,776 (GRCm38)	missense	possibly damaging	0.56
R5415:Plcb1	UTSW	2	135,347,402 (GRCm38)	missense	possibly damaging	0.67
R5523:Plcb1	UTSW	2	135,260,566 (GRCm38)	missense	probably benign	0.08
R5568:Plcb1	UTSW	2	135,370,593 (GRCm38)	missense	probably damaging	1.00
R5688:Plcb1	UTSW	2	135,335,480 (GRCm38)	missense	probably benign	0.06
R5809:Plcb1	UTSW	2	135,262,244 (GRCm38)	missense	possibly damaging	0.83
R6237:Plcb1	UTSW	2	135,370,566 (GRCm38)	missense	possibly damaging	0.94
R6315:Plcb1	UTSW	2	135,346,341 (GRCm38)	missense	probably benign	0.00
R6478:Plcb1	UTSW	2	135,335,451 (GRCm38)	missense	probably damaging	1.00
R6531:Plcb1	UTSW	2	135,325,802 (GRCm38)	critical splice donor site	probably null
R6683:Plcb1	UTSW	2	134,786,593 (GRCm38)	missense	probably benign	0.32
R6760:Plcb1	UTSW	2	135,472,060 (GRCm38)	missense	possibly damaging	0.50
R6947:Plcb1	UTSW	2	135,386,155 (GRCm38)	missense	probably benign	0.08
R6976:Plcb1	UTSW	2	135,262,239 (GRCm38)	missense	possibly damaging	0.75
R7379:Plcb1	UTSW	2	135,370,510 (GRCm38)	missense	probably benign	0.45
R7473:Plcb1	UTSW	2	135,344,276 (GRCm38)	missense	probably damaging	0.98
R7492:Plcb1	UTSW	2	135,251,764 (GRCm38)	nonsense	probably null
R7498:Plcb1	UTSW	2	135,262,234 (GRCm38)	missense	probably damaging	0.99
R7498:Plcb1	UTSW	2	135,262,233 (GRCm38)	nonsense	probably null
R7924:Plcb1	UTSW	2	135,359,693 (GRCm38)	missense	probably benign	0.00
R8061:Plcb1	UTSW	2	135,346,396 (GRCm38)	missense	probably benign
R8099:Plcb1	UTSW	2	135,251,734 (GRCm38)	missense	possibly damaging	0.68
R8299:Plcb1	UTSW	2	135,335,476 (GRCm38)	missense	probably damaging	1.00
R8394:Plcb1	UTSW	2	135,317,790 (GRCm38)	missense	probably damaging	1.00
R8439:Plcb1	UTSW	2	135,250,052 (GRCm38)	critical splice donor site	probably null
R8549:Plcb1	UTSW	2	135,364,933 (GRCm38)	missense	probably benign	0.00
R8693:Plcb1	UTSW	2	135,252,776 (GRCm38)	missense	probably benign	0.00
R8750:Plcb1	UTSW	2	135,335,449 (GRCm38)	missense	probably damaging	1.00
R8817:Plcb1	UTSW	2	135,333,509 (GRCm38)	intron	probably benign
R8950:Plcb1	UTSW	2	135,337,519 (GRCm38)	missense	probably damaging	1.00
R9146:Plcb1	UTSW	2	135,340,695 (GRCm38)	missense	probably damaging	1.00
R9301:Plcb1	UTSW	2	135,325,690 (GRCm38)	missense	possibly damaging	0.96
R9311:Plcb1	UTSW	2	135,347,465 (GRCm38)	missense	probably benign	0.00
R9459:Plcb1	UTSW	2	135,322,638 (GRCm38)	missense	probably benign	0.03
S24628:Plcb1	UTSW	2	135,337,499 (GRCm38)	missense	probably damaging	1.00
X0025:Plcb1	UTSW	2	135,345,054 (GRCm38)	missense	possibly damaging	0.87
Z1088:Plcb1	UTSW	2	135,220,846 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCCAGTCACTGTAAAATGGAAGAC -3'
(R):5'- TTCAGATGGCAGCTTAACCC -3'

Sequencing Primer
(F):5'- GGCAGTTCTACTTCTAGTTC -3'
(R):5'- GATGGCAGCTTAACCCAAACTAC -3'

Posted On

2019-11-26