Mutagenetix > Incidental Mutation

Incidental Mutation 'R4191:Plcb1'

318296

Institutional Source

Beutler Lab

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

MMRRC Submission

041022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R4191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134628084-135317178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 135187010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 759 (H759P)

Ref Sequence

ENSEMBL: ENSMUSP00000118756 (fasta)

Gene Model

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

AlphaFold

Q9Z1B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070724
AA Change: H759P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: H759P

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 damaging
Transcript: ENSMUST00000110116
AA Change: H759P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: H759P

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

probably damaging
Transcript: ENSMUST00000131552
AA Change: H759P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: H759P

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

noncoding transcript
Transcript: ENSMUST00000153402

Meta Mutation Damage Score

0.9418

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (57/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,207,728 (GRCm39)	T22A	probably damaging	Het
Ache	A	T	5: 137,289,334 (GRCm39)	I347F	probably damaging	Het
Adgrl1	C	G	8: 84,665,569 (GRCm39)	R1464G	probably benign	Het
Cdh11	T	C	8: 103,377,380 (GRCm39)	D422G	probably damaging	Het
Cdx1	C	T	18: 61,153,510 (GRCm39)	S176N	possibly damaging	Het
Cimip3	C	T	17: 47,747,562 (GRCm39)	R61H	probably damaging	Het
Csmd3	T	C	15: 47,710,667 (GRCm39)	D1536G	probably damaging	Het
Cyct	G	T	2: 76,184,535 (GRCm39)	P72Q	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Disp1	G	T	1: 182,870,737 (GRCm39)	A561E	probably damaging	Het
Donson	C	A	16: 91,485,480 (GRCm39)	A41S	possibly damaging	Het
Gldc	T	C	19: 30,123,058 (GRCm39)	E279G	probably damaging	Het
Gpr160	A	T	3: 30,950,863 (GRCm39)	I312F	possibly damaging	Het
H2-Eb2	G	A	17: 34,563,529 (GRCm39)		probably benign	Het
Igdcc4	A	G	9: 65,031,433 (GRCm39)	Q457R	probably benign	Het
Irf2bp2	T	C	8: 127,320,084 (GRCm39)	D31G	probably damaging	Het
Klrb1	T	A	6: 128,690,597 (GRCm39)	K42*	probably null	Het
Lrrfip1	A	T	1: 91,038,121 (GRCm39)	E446D	probably benign	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Maml3	A	G	3: 51,597,390 (GRCm39)	V1098A	probably benign	Het
Mrgpra4	T	C	7: 47,630,867 (GRCm39)	S245G	probably benign	Het
Mybbp1a	A	G	11: 72,342,113 (GRCm39)	E1283G	probably damaging	Het
Myh2	A	G	11: 67,068,226 (GRCm39)	S285G	possibly damaging	Het
Myh7b	A	G	2: 155,475,319 (GRCm39)	D1876G	probably benign	Het
Nr4a2	T	C	2: 57,002,391 (GRCm39)	S21G	probably damaging	Het
Or10d1c	T	A	9: 38,894,313 (GRCm39)	Q9L	probably benign	Het
Or2y14	T	A	11: 49,404,639 (GRCm39)	M58K	probably damaging	Het
Or7g25	A	G	9: 19,160,383 (GRCm39)	V104A	probably benign	Het
Or8c11	T	A	9: 38,289,648 (GRCm39)	M157K	probably damaging	Het
Or8k18	C	A	2: 86,085,666 (GRCm39)	V124L	probably benign	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Pex10	T	C	4: 155,152,362 (GRCm39)		probably null	Het
Pgf	T	C	12: 85,218,561 (GRCm39)	D63G	probably benign	Het
Piwil4	A	G	9: 14,626,296 (GRCm39)	S465P	probably damaging	Het
Pmfbp1	A	T	8: 110,254,260 (GRCm39)	M432L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Rmnd1	A	T	10: 4,360,809 (GRCm39)		probably benign	Het
Ro60	T	C	1: 143,646,524 (GRCm39)	I74V	probably benign	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Svep1	C	T	4: 58,046,601 (GRCm39)	C3510Y	possibly damaging	Het
Tanc1	A	G	2: 59,669,357 (GRCm39)	I1274V	probably damaging	Het
Tep1	T	C	14: 51,074,263 (GRCm39)	E1874G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tlk1	G	A	2: 70,555,891 (GRCm39)	R423C	probably damaging	Het
Trp53rkb	T	C	2: 166,637,395 (GRCm39)	I117T	probably damaging	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Zfp112	A	G	7: 23,825,568 (GRCm39)	D512G	probably benign	Het
Zfyve19	A	G	2: 119,041,312 (GRCm39)	K76R	possibly damaging	Het

Other mutations in Plcb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Plcb1	APN	2	135,093,676 (GRCm39)	missense	possibly damaging	0.66
IGL01152:Plcb1	APN	2	134,655,579 (GRCm39)	missense	probably damaging	1.00
IGL01945:Plcb1	APN	2	135,062,711 (GRCm39)	missense	probably benign	0.03
IGL01999:Plcb1	APN	2	135,188,238 (GRCm39)	missense	probably damaging	1.00
IGL02109:Plcb1	APN	2	134,628,479 (GRCm39)	missense	probably damaging	1.00
IGL02153:Plcb1	APN	2	135,229,773 (GRCm39)	missense	probably benign	0.08
IGL02207:Plcb1	APN	2	135,229,091 (GRCm39)	missense	probably damaging	1.00
IGL02566:Plcb1	APN	2	135,314,183 (GRCm39)	missense	probably benign	0.17
IGL02590:Plcb1	APN	2	135,136,784 (GRCm39)	missense	probably benign	0.08
IGL02640:Plcb1	APN	2	135,062,779 (GRCm39)	splice site	probably benign
IGL02926:Plcb1	APN	2	135,206,682 (GRCm39)	splice site	probably benign
IGL03071:Plcb1	APN	2	135,229,722 (GRCm39)	missense	probably damaging	1.00
IGL03236:Plcb1	APN	2	135,188,226 (GRCm39)	missense	probably damaging	1.00
IGL03252:Plcb1	APN	2	135,212,348 (GRCm39)	missense	probably benign
IGL03387:Plcb1	APN	2	134,655,606 (GRCm39)	splice site	probably benign
BB001:Plcb1	UTSW	2	135,201,613 (GRCm39)	missense	probably benign	0.00
BB011:Plcb1	UTSW	2	135,201,613 (GRCm39)	missense	probably benign	0.00
R0024:Plcb1	UTSW	2	135,204,345 (GRCm39)	missense	probably benign	0.06
R0024:Plcb1	UTSW	2	135,204,345 (GRCm39)	missense	probably benign	0.06
R0053:Plcb1	UTSW	2	135,136,835 (GRCm39)	missense	probably benign	0.33
R0053:Plcb1	UTSW	2	135,136,835 (GRCm39)	missense	probably benign	0.33
R0308:Plcb1	UTSW	2	134,655,534 (GRCm39)	missense	probably benign	0.01
R0415:Plcb1	UTSW	2	135,179,419 (GRCm39)	missense	probably damaging	1.00
R0624:Plcb1	UTSW	2	135,136,831 (GRCm39)	missense	possibly damaging	0.81
R0898:Plcb1	UTSW	2	135,229,063 (GRCm39)	missense	possibly damaging	0.73
R1071:Plcb1	UTSW	2	135,167,577 (GRCm39)	missense	possibly damaging	0.64
R1615:Plcb1	UTSW	2	135,204,364 (GRCm39)	splice site	probably benign
R1617:Plcb1	UTSW	2	135,179,361 (GRCm39)	missense	probably damaging	1.00
R1785:Plcb1	UTSW	2	135,167,587 (GRCm39)	nonsense	probably null
R1866:Plcb1	UTSW	2	135,186,093 (GRCm39)	missense	probably benign	0.01
R1869:Plcb1	UTSW	2	135,152,934 (GRCm39)	missense	probably benign	0.02
R1902:Plcb1	UTSW	2	134,655,533 (GRCm39)	missense	possibly damaging	0.93
R1938:Plcb1	UTSW	2	135,228,222 (GRCm39)	missense	probably damaging	1.00
R2016:Plcb1	UTSW	2	135,204,340 (GRCm39)	missense	possibly damaging	0.94
R2017:Plcb1	UTSW	2	135,204,340 (GRCm39)	missense	possibly damaging	0.94
R2131:Plcb1	UTSW	2	135,167,587 (GRCm39)	nonsense	probably null
R2132:Plcb1	UTSW	2	135,167,587 (GRCm39)	nonsense	probably null
R2133:Plcb1	UTSW	2	135,167,587 (GRCm39)	nonsense	probably null
R2164:Plcb1	UTSW	2	135,188,250 (GRCm39)	missense	possibly damaging	0.87
R2419:Plcb1	UTSW	2	135,104,020 (GRCm39)	splice site	probably benign
R2429:Plcb1	UTSW	2	135,179,362 (GRCm39)	missense	probably damaging	0.99
R2508:Plcb1	UTSW	2	135,102,428 (GRCm39)	missense	probably benign	0.27
R3161:Plcb1	UTSW	2	135,177,402 (GRCm39)	missense	probably benign	0.03
R3870:Plcb1	UTSW	2	135,167,591 (GRCm39)	missense	probably damaging	0.99
R4239:Plcb1	UTSW	2	135,186,078 (GRCm39)	missense	probably damaging	0.99
R4552:Plcb1	UTSW	2	135,177,413 (GRCm39)	missense	probably benign	0.44
R4553:Plcb1	UTSW	2	135,177,413 (GRCm39)	missense	probably benign	0.44
R4720:Plcb1	UTSW	2	135,093,667 (GRCm39)	missense	possibly damaging	0.70
R4946:Plcb1	UTSW	2	135,187,015 (GRCm39)	missense	probably benign	0.01
R5012:Plcb1	UTSW	2	135,175,320 (GRCm39)	missense	probably null	0.97
R5151:Plcb1	UTSW	2	135,104,165 (GRCm39)	missense	probably benign	0.28
R5320:Plcb1	UTSW	2	135,094,696 (GRCm39)	missense	possibly damaging	0.56
R5415:Plcb1	UTSW	2	135,189,322 (GRCm39)	missense	possibly damaging	0.67
R5523:Plcb1	UTSW	2	135,102,486 (GRCm39)	missense	probably benign	0.08
R5568:Plcb1	UTSW	2	135,212,513 (GRCm39)	missense	probably damaging	1.00
R5688:Plcb1	UTSW	2	135,177,400 (GRCm39)	missense	probably benign	0.06
R5809:Plcb1	UTSW	2	135,104,164 (GRCm39)	missense	possibly damaging	0.83
R6237:Plcb1	UTSW	2	135,212,486 (GRCm39)	missense	possibly damaging	0.94
R6315:Plcb1	UTSW	2	135,188,261 (GRCm39)	missense	probably benign	0.00
R6478:Plcb1	UTSW	2	135,177,371 (GRCm39)	missense	probably damaging	1.00
R6531:Plcb1	UTSW	2	135,167,722 (GRCm39)	critical splice donor site	probably null
R6683:Plcb1	UTSW	2	134,628,513 (GRCm39)	missense	probably benign	0.32
R6760:Plcb1	UTSW	2	135,313,980 (GRCm39)	missense	possibly damaging	0.50
R6947:Plcb1	UTSW	2	135,228,075 (GRCm39)	missense	probably benign	0.08
R6976:Plcb1	UTSW	2	135,104,159 (GRCm39)	missense	possibly damaging	0.75
R7379:Plcb1	UTSW	2	135,212,430 (GRCm39)	missense	probably benign	0.45
R7473:Plcb1	UTSW	2	135,186,196 (GRCm39)	missense	probably damaging	0.98
R7492:Plcb1	UTSW	2	135,093,684 (GRCm39)	nonsense	probably null
R7498:Plcb1	UTSW	2	135,104,154 (GRCm39)	missense	probably damaging	0.99
R7498:Plcb1	UTSW	2	135,104,153 (GRCm39)	nonsense	probably null
R7777:Plcb1	UTSW	2	135,062,677 (GRCm39)	missense	possibly damaging	0.51
R7924:Plcb1	UTSW	2	135,201,613 (GRCm39)	missense	probably benign	0.00
R8061:Plcb1	UTSW	2	135,188,316 (GRCm39)	missense	probably benign
R8099:Plcb1	UTSW	2	135,093,654 (GRCm39)	missense	possibly damaging	0.68
R8299:Plcb1	UTSW	2	135,177,396 (GRCm39)	missense	probably damaging	1.00
R8394:Plcb1	UTSW	2	135,159,710 (GRCm39)	missense	probably damaging	1.00
R8439:Plcb1	UTSW	2	135,091,972 (GRCm39)	critical splice donor site	probably null
R8549:Plcb1	UTSW	2	135,206,853 (GRCm39)	missense	probably benign	0.00
R8693:Plcb1	UTSW	2	135,094,696 (GRCm39)	missense	probably benign	0.00
R8750:Plcb1	UTSW	2	135,177,369 (GRCm39)	missense	probably damaging	1.00
R8817:Plcb1	UTSW	2	135,175,429 (GRCm39)	intron	probably benign
R8950:Plcb1	UTSW	2	135,179,439 (GRCm39)	missense	probably damaging	1.00
R9146:Plcb1	UTSW	2	135,182,615 (GRCm39)	missense	probably damaging	1.00
R9301:Plcb1	UTSW	2	135,167,610 (GRCm39)	missense	possibly damaging	0.96
R9311:Plcb1	UTSW	2	135,189,385 (GRCm39)	missense	probably benign	0.00
R9459:Plcb1	UTSW	2	135,164,558 (GRCm39)	missense	probably benign	0.03
S24628:Plcb1	UTSW	2	135,179,419 (GRCm39)	missense	probably damaging	1.00
X0025:Plcb1	UTSW	2	135,186,974 (GRCm39)	missense	possibly damaging	0.87
Z1088:Plcb1	UTSW	2	135,062,766 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTTCTTACAACACAGAGAGGCAAC -3'
(R):5'- ACTTTTACAGCACAGCAACATG -3'

Sequencing Primer
(F):5'- CAGGGCCAGCTTTTCTAA -3'
(R):5'- TTTTACAGCACAGCAACATGACAAAC -3'

Posted On

2015-06-10