Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03252:Plcb1'

414563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03252

Quality Score

Status

Chromosome

Chromosomal Location

134628084-135317178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135212348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 980 (P980S)

Ref Sequence

ENSEMBL: ENSMUSP00000118756 (fasta)

Gene Model

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

AlphaFold

Q9Z1B3

Predicted Effect

probably benign
Transcript: ENSMUST00000070724
AA Change: P980S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: P980S

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
AA Change: P980S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: P980S

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 benign
Transcript: ENSMUST00000131552
AA Change: P980S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: P980S

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

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 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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galnt2	A	G	11: 95,764,757 (GRCm39)	S237P	probably damaging	Het
Btla	A	G	16: 45,059,509 (GRCm39)	H71R	possibly damaging	Het
Calml3	T	A	13: 3,853,759 (GRCm39)	K149*	probably null	Het
Cyp2c29	T	C	19: 39,275,619 (GRCm39)	W20R	probably damaging	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Elf3	T	C	1: 135,182,691 (GRCm39)	T345A	probably damaging	Het
Erc2	T	C	14: 28,197,606 (GRCm39)		probably benign	Het
Gm10375	C	T	14: 43,842,289 (GRCm39)	C147Y	probably damaging	Het
Gsdma2	A	G	11: 98,539,916 (GRCm39)	R13G	probably damaging	Het
H3c1	G	A	13: 23,945,943 (GRCm39)		probably null	Het
Ighg3	G	T	12: 113,324,184 (GRCm39)	P101H	unknown	Het
L3mbtl3	A	G	10: 26,207,710 (GRCm39)		probably benign	Het
Micall2	T	C	5: 139,702,481 (GRCm39)	N254S	probably benign	Het
Myh4	A	T	11: 67,143,042 (GRCm39)	D990V	probably damaging	Het
Ncapd3	T	A	9: 26,962,745 (GRCm39)	F394I	probably damaging	Het
Nek1	C	T	8: 61,525,364 (GRCm39)	Q601*	probably null	Het
Or4k37	T	A	2: 111,159,125 (GRCm39)	Y120*	probably null	Het
Or52n2c	C	T	7: 104,574,594 (GRCm39)	V126I	probably benign	Het
Puf60	T	C	15: 75,943,699 (GRCm39)	D224G	probably damaging	Het
Pus7l	T	A	15: 94,423,691 (GRCm39)	H586L	probably benign	Het
Rims2	T	C	15: 39,315,748 (GRCm39)	S585P	probably benign	Het
Rxfp1	T	A	3: 79,574,990 (GRCm39)	D207V	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sptlc2	A	G	12: 87,402,431 (GRCm39)	I165T	probably benign	Het
Sult2a3	A	G	7: 13,801,559 (GRCm39)	V260A	probably damaging	Het
Tas2r125	A	G	6: 132,887,553 (GRCm39)		probably null	Het
Tbx18	T	A	9: 87,587,633 (GRCm39)	I495F	probably damaging	Het
Top2b	A	T	14: 16,393,163 (GRCm38)	N274I	possibly damaging	Het
Vmn2r53	T	G	7: 12,340,318 (GRCm39)	T52P	probably 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
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
R4191:Plcb1	UTSW	2	135,187,010 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02