Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Plcb1'

249122

Institutional Source

Beutler Lab

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R2419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134786067-135475258 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 135262100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9Z1B3

Predicted Effect

probably benign
Transcript: ENSMUST00000070724

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177

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

probably benign
Transcript: ENSMUST00000110116

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177

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

noncoding transcript
Transcript: ENSMUST00000129382

Predicted Effect

probably benign
Transcript: ENSMUST00000131552

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,437,989 (GRCm38)	A768T	probably benign	Het
Acyp2	T	C	11: 30,632,316 (GRCm38)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,768,369 (GRCm38)		probably benign	Het
Arap3	T	C	18: 37,989,944 (GRCm38)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,666,888 (GRCm38)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 48,370,541 (GRCm38)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,548,975 (GRCm38)	V35D	probably benign	Het
Cd6	G	A	19: 10,792,852 (GRCm38)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,975,015 (GRCm38)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,638,048 (GRCm38)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,115,310 (GRCm38)	G222R	probably damaging	Het
Dnah9	A	T	11: 66,095,415 (GRCm38)	L1131*	probably null	Het
Dscc1	G	A	15: 55,083,424 (GRCm38)	R302*	probably null	Het
Dusp18	T	C	11: 3,897,018 (GRCm38)	S3P	possibly damaging	Het
Eml2	A	G	7: 19,176,695 (GRCm38)		probably benign	Het
Foxb2	G	C	19: 16,872,961 (GRCm38)	A227G	probably damaging	Het
Hey1	A	G	3: 8,665,943 (GRCm38)		probably null	Het
Itk	A	G	11: 46,338,217 (GRCm38)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,104,153 (GRCm38)	G17R	probably benign	Het
Kif7	C	A	7: 79,698,693 (GRCm38)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,289,112 (GRCm38)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,148,627 (GRCm38)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,907,537 (GRCm38)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,903,685 (GRCm38)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,797,526 (GRCm38)		probably benign	Het
Mcur1	C	T	13: 43,549,537 (GRCm38)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,830 (GRCm38)		probably benign	Het
Mical3	A	G	6: 120,959,923 (GRCm38)	V342A	probably benign	Het
Nup210	G	A	6: 91,017,556 (GRCm38)		probably benign	Het
Or1i2	T	A	10: 78,612,387 (GRCm38)	I85F	probably benign	Het
Or1j12	T	A	2: 36,453,326 (GRCm38)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,959,036 (GRCm38)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,091,328 (GRCm38)	L398P	probably benign	Het
Phc3	T	C	3: 30,950,878 (GRCm38)	M189V	probably damaging	Het
Plcxd3	G	T	15: 4,574,763 (GRCm38)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,161,069 (GRCm38)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,493,826 (GRCm38)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,821,372 (GRCm38)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908 (GRCm38)		probably benign	Het
Samt2	A	T	X: 154,575,227 (GRCm38)		probably null	Het
Sdad1	T	C	5: 92,305,818 (GRCm38)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,548,997 (GRCm38)	F627I	possibly damaging	Het
Ski	A	G	4: 155,160,893 (GRCm38)	S293P	probably benign	Het
Slc27a1	A	G	8: 71,579,916 (GRCm38)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,617,219 (GRCm38)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm38)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,182,813 (GRCm38)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,376,902 (GRCm38)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,276,658 (GRCm38)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 121,007,105 (GRCm38)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,796,815 (GRCm38)	K1167E	probably damaging	Het
Trap1	A	G	16: 4,068,330 (GRCm38)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,423,732 (GRCm38)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,541,399 (GRCm38)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,524,834 (GRCm38)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,556,250 (GRCm38)	L17R	probably damaging	Het
Zcchc14	T	A	8: 121,603,936 (GRCm38)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,535,883 (GRCm38)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,276,192 (GRCm38)		probably benign	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
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
R7777:Plcb1	UTSW	2	135,220,757 (GRCm38)	missense	possibly damaging	0.51
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'- GTAACCCACCAAGCTTTGTG -3'
(R):5'- CAAGTGTGGTCAGTCACAGAGG -3'

Sequencing Primer
(F):5'- CCACCAAGCTTTGTGAAGTG -3'
(R):5'- GAGTGAGTGACGCATATTACCTTTC -3'

Posted On

2014-11-12