Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01152:Plcb1'

50654

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: 0.226) question?

Stock #

IGL01152

Quality Score

Status

Chromosome

Chromosomal Location

134786067-135475258 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134813659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 53 (Y53C)

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: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: Y53C

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: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: Y53C

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: ENSMUST00000130524

Predicted Effect

probably damaging
Transcript: ENSMUST00000131552
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: Y53C

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: ENSMUST00000202531

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,435,164 (GRCm38)	H356L	probably benign	Het
A730013G03Rik	T	G	1: 192,833,639 (GRCm38)		noncoding transcript	Het
Abcb4	G	A	5: 8,950,678 (GRCm38)	V1031M	probably benign	Het
Abcc4	A	G	14: 118,599,385 (GRCm38)	S655P	probably damaging	Het
Actn1	T	C	12: 80,199,046 (GRCm38)	K121R	probably damaging	Het
Aldh1l2	T	A	10: 83,522,886 (GRCm38)	R82*	probably null	Het
Arhgap31	T	A	16: 38,602,239 (GRCm38)	H1155L	possibly damaging	Het
Atp8a1	G	T	5: 67,847,206 (GRCm38)	P2Q	probably damaging	Het
Bcs1l	A	G	1: 74,592,015 (GRCm38)	M401V	possibly damaging	Het
Brca2	A	T	5: 150,542,390 (GRCm38)	N1873I	probably damaging	Het
Cenpj	T	C	14: 56,552,300 (GRCm38)	N764S	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm38)	S162N	probably damaging	Het
Clk1	A	T	1: 58,413,452 (GRCm38)	C359S	possibly damaging	Het
Clk2	T	A	3: 89,176,511 (GRCm38)	F479I	probably damaging	Het
Cul4b	T	C	X: 38,543,370 (GRCm38)	M709V	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,620 (GRCm38)		probably null	Het
Dgkb	T	A	12: 38,084,234 (GRCm38)	N46K	probably damaging	Het
Dnah9	C	T	11: 66,072,056 (GRCm38)	R1811H	probably damaging	Het
Dnajc18	T	C	18: 35,680,873 (GRCm38)	N281S	probably benign	Het
Galnt5	A	T	2: 58,025,393 (GRCm38)	I654L	probably benign	Het
Gm9989	T	G	3: 81,922,211 (GRCm38)		noncoding transcript	Het
Gpr179	T	C	11: 97,337,411 (GRCm38)	E1306G	probably benign	Het
Gsc	C	A	12: 104,471,605 (GRCm38)	K219N	probably damaging	Het
Gsx2	A	T	5: 75,075,791 (GRCm38)	I11F	probably damaging	Het
Igdcc4	A	C	9: 65,135,164 (GRCm38)	E121A	probably damaging	Het
Lama2	C	T	10: 27,208,429 (GRCm38)	R915H	probably benign	Het
Large2	A	G	2: 92,370,639 (GRCm38)	L64P	probably damaging	Het
Lztr1	C	A	16: 17,522,453 (GRCm38)	Q136K	probably damaging	Het
Mageb18	A	G	X: 92,119,824 (GRCm38)	W271R	possibly damaging	Het
Magoh	A	C	4: 107,885,006 (GRCm38)		probably benign	Het
Mrgprx1	T	C	7: 48,021,486 (GRCm38)	H171R	probably benign	Het
Muc1	C	A	3: 89,230,754 (GRCm38)	T301K	probably benign	Het
Nbas	C	T	12: 13,360,958 (GRCm38)	L868F	probably damaging	Het
Nwd2	A	G	5: 63,806,529 (GRCm38)	D1152G	possibly damaging	Het
Olfr493	C	T	7: 108,346,949 (GRCm38)	A11T	probably benign	Het
Olfr77	G	A	9: 19,920,949 (GRCm38)	V247M	possibly damaging	Het
Ovgp1	T	A	3: 105,986,172 (GRCm38)	D420E	possibly damaging	Het
Pacsin3	A	G	2: 91,263,776 (GRCm38)	D350G	probably benign	Het
Pcolce2	A	T	9: 95,692,923 (GRCm38)	N309Y	probably damaging	Het
Pim2	C	A	X: 7,878,422 (GRCm38)		probably benign	Het
Pogk	T	C	1: 166,408,478 (GRCm38)	E18G	probably damaging	Het
Pxdn	T	A	12: 30,001,937 (GRCm38)	D704E	probably damaging	Het
Rb1	C	A	14: 73,205,870 (GRCm38)	S781I	probably damaging	Het
Rnpepl1	A	G	1: 92,915,899 (GRCm38)	H247R	possibly damaging	Het
Scube1	A	T	15: 83,613,570 (GRCm38)	F697I	probably damaging	Het
Sel1l3	G	T	5: 53,116,333 (GRCm38)	H1064N	probably damaging	Het
Serinc3	A	G	2: 163,636,911 (GRCm38)	Y99H	probably damaging	Het
Slc36a2	T	A	11: 55,169,847 (GRCm38)		probably benign	Het
Smarcc1	A	C	9: 110,139,625 (GRCm38)	E130A	possibly damaging	Het
Strc	A	G	2: 121,370,795 (GRCm38)	M1273T	probably benign	Het
Tmem116	A	G	5: 121,463,799 (GRCm38)	I21V	probably benign	Het
Tmem190	T	C	7: 4,784,026 (GRCm38)		probably benign	Het
Trim63	C	T	4: 134,325,676 (GRCm38)	A316V	probably benign	Het
Ugt2b34	T	C	5: 86,901,203 (GRCm38)	E321G	probably damaging	Het
Zfat	T	A	15: 68,110,504 (GRCm38)	R1053S	probably 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
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
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

Posted On

2013-06-21