Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02153:Plcb1'

282141

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 #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

134786067-135475258 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135387853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1131 (I1131T)

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: I1131T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: I1131T

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: I1131T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: I1131T

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: I1131T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: I1131T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,441,241 (GRCm38)	I275T	probably benign	Het
BC005561	A	G	5: 104,521,083 (GRCm38)	E1157G	probably benign	Het
Chd9	A	T	8: 90,956,494 (GRCm38)	K521*	probably null	Het
Csn3	A	T	5: 87,930,097 (GRCm38)	N154I	possibly damaging	Het
Dock2	A	G	11: 34,230,670 (GRCm38)	S1716P	probably benign	Het
Dock7	A	T	4: 98,958,067 (GRCm38)	S18T	probably benign	Het
Esrra	G	A	19: 6,913,822 (GRCm38)	T190I	probably benign	Het
F13b	T	C	1: 139,516,377 (GRCm38)	I483T	probably damaging	Het
Foxb1	T	A	9: 69,759,703 (GRCm38)	M182L	probably benign	Het
Fsip2	T	C	2: 82,978,721 (GRCm38)	F1795L	probably benign	Het
Gkn2	G	A	6: 87,373,408 (GRCm38)		probably null	Het
Gm8439	G	A	4: 120,609,590 (GRCm38)	A93T	unknown	Het
Ift22	T	C	5: 136,911,696 (GRCm38)	S72P	probably benign	Het
Kcnmb2	A	G	3: 32,178,844 (GRCm38)	K24E	probably damaging	Het
Kcnq3	C	A	15: 66,025,191 (GRCm38)	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,170,479 (GRCm38)	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,929,488 (GRCm38)	I59T	probably benign	Het
Mogat2	A	T	7: 99,223,554 (GRCm38)	M141K	possibly damaging	Het
Mtdh	C	T	15: 34,131,250 (GRCm38)	L409F	possibly damaging	Het
Muc5ac	C	T	7: 141,818,800 (GRCm38)	Q2724*	probably null	Het
Myo15	T	G	11: 60,498,397 (GRCm38)	L2040R	probably damaging	Het
Nodal	C	T	10: 61,424,545 (GRCm38)	T325I	probably damaging	Het
Pappa	A	T	4: 65,297,437 (GRCm38)	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,443,685 (GRCm38)	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,016 (GRCm38)	N292K	probably damaging	Het
Pigr	T	A	1: 130,849,056 (GRCm38)		probably null	Het
Plch1	T	A	3: 63,781,351 (GRCm38)	D132V	probably damaging	Het
Plxnb2	C	A	15: 89,165,813 (GRCm38)	E502*	probably null	Het
Prox2	T	C	12: 85,087,929 (GRCm38)	N526S	probably damaging	Het
Rdm1	T	A	11: 101,628,454 (GRCm38)		probably null	Het
Rxfp1	C	T	3: 79,660,120 (GRCm38)	E308K	probably benign	Het
Sgca	T	C	11: 94,963,284 (GRCm38)	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,703,352 (GRCm38)	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,633,055 (GRCm38)		probably benign	Het
Spata45	T	A	1: 191,039,761 (GRCm38)	M60K	probably benign	Het
St8sia6	T	C	2: 13,656,905 (GRCm38)	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,434,664 (GRCm38)	S44A	probably benign	Het
Tcea3	T	A	4: 136,273,634 (GRCm38)		probably benign	Het
Tln1	T	C	4: 43,546,857 (GRCm38)	I840V	possibly damaging	Het
Ttn	T	C	2: 76,898,341 (GRCm38)		probably benign	Het
Ubr4	T	A	4: 139,460,160 (GRCm38)	Y3846*	probably null	Het
Usp47	G	A	7: 112,104,049 (GRCm38)	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,291,808 (GRCm38)	T566I	probably benign	Het
Wdr35	G	A	12: 9,008,535 (GRCm38)	R575Q	probably null	Het
Xkr5	A	T	8: 18,933,667 (GRCm38)	C454S	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
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

2015-04-16