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: 0.166) question?

Stock #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

134628084-135317178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135229773 bp (GRCm39)

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: 152,283,161 (GRCm39)	I275T	probably benign	Het
Chd9	A	T	8: 91,683,122 (GRCm39)	K521*	probably null	Het
Csn3	A	T	5: 88,077,956 (GRCm39)	N154I	possibly damaging	Het
Dock2	A	G	11: 34,180,670 (GRCm39)	S1716P	probably benign	Het
Dock7	A	T	4: 98,846,304 (GRCm39)	S18T	probably benign	Het
Esrra	G	A	19: 6,891,190 (GRCm39)	T190I	probably benign	Het
F13b	T	C	1: 139,444,115 (GRCm39)	I483T	probably damaging	Het
Foxb1	T	A	9: 69,666,985 (GRCm39)	M182L	probably benign	Het
Fsip2	T	C	2: 82,809,065 (GRCm39)	F1795L	probably benign	Het
Gkn2	G	A	6: 87,350,390 (GRCm39)		probably null	Het
Gm8439	G	A	4: 120,466,787 (GRCm39)	A93T	unknown	Het
Ift22	T	C	5: 136,940,550 (GRCm39)	S72P	probably benign	Het
Kcnmb2	A	G	3: 32,232,993 (GRCm39)	K24E	probably damaging	Het
Kcnq3	C	A	15: 65,897,040 (GRCm39)	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,006,340 (GRCm39)	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,748,240 (GRCm39)	I59T	probably benign	Het
Mogat2	A	T	7: 98,872,761 (GRCm39)	M141K	possibly damaging	Het
Mtdh	C	T	15: 34,131,396 (GRCm39)	L409F	possibly damaging	Het
Muc5ac	C	T	7: 141,372,537 (GRCm39)	Q2724*	probably null	Het
Myo15a	T	G	11: 60,389,223 (GRCm39)	L2040R	probably damaging	Het
Nodal	C	T	10: 61,260,324 (GRCm39)	T325I	probably damaging	Het
Pappa	A	T	4: 65,215,674 (GRCm39)	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,576,738 (GRCm39)	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Pigr	T	A	1: 130,776,793 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,688,772 (GRCm39)	D132V	probably damaging	Het
Plxnb2	C	A	15: 89,050,016 (GRCm39)	E502*	probably null	Het
Prox2	T	C	12: 85,134,703 (GRCm39)	N526S	probably damaging	Het
Rdm1	T	A	11: 101,519,280 (GRCm39)		probably null	Het
Rxfp1	C	T	3: 79,567,427 (GRCm39)	E308K	probably benign	Het
Sgca	T	C	11: 94,854,110 (GRCm39)	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,860,696 (GRCm39)	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,672,214 (GRCm39)		probably benign	Het
Spata45	T	A	1: 190,771,958 (GRCm39)	M60K	probably benign	Het
St8sia6	T	C	2: 13,661,716 (GRCm39)	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,411,598 (GRCm39)	S44A	probably benign	Het
Tcea3	T	A	4: 136,000,945 (GRCm39)		probably benign	Het
Thoc2l	A	G	5: 104,668,949 (GRCm39)	E1157G	probably benign	Het
Tln1	T	C	4: 43,546,857 (GRCm39)	I840V	possibly damaging	Het
Ttn	T	C	2: 76,728,685 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,187,471 (GRCm39)	Y3846*	probably null	Het
Usp47	G	A	7: 111,703,256 (GRCm39)	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,510,782 (GRCm39)	T566I	probably benign	Het
Wdr35	G	A	12: 9,058,535 (GRCm39)	R575Q	probably null	Het
Xkr5	A	T	8: 18,983,683 (GRCm39)	C454S	probably benign	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
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
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

2015-04-16