Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02590:Plcb1'

299697

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 #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

134628084-135317178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135136784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 293 (D293G)

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: D293G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: D293G

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: D293G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: D293G

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: D293G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: D293G

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,404 (GRCm39)	F118S	probably damaging	Het
Adam5	T	G	8: 25,234,151 (GRCm39)		probably benign	Het
Bok	T	C	1: 93,614,397 (GRCm39)		probably benign	Het
C1s1	C	T	6: 124,508,235 (GRCm39)	V585I	possibly damaging	Het
Chd2	C	T	7: 73,102,948 (GRCm39)	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,889,732 (GRCm39)	T54S	probably benign	Het
Dnah7b	A	T	1: 46,162,937 (GRCm39)	T428S	probably benign	Het
Efhc1	T	C	1: 21,037,608 (GRCm39)	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,836,250 (GRCm39)	I404F	probably damaging	Het
Glra2	T	C	X: 164,037,222 (GRCm39)	N237S	probably benign	Het
Gypc	A	G	18: 32,663,060 (GRCm39)	*96R	probably null	Het
Il15	T	C	8: 83,069,912 (GRCm39)	I51V	probably benign	Het
Itgb2	T	C	10: 77,395,347 (GRCm39)	C483R	probably damaging	Het
Kdr	C	T	5: 76,096,983 (GRCm39)	D1272N	probably benign	Het
Kif14	C	A	1: 136,423,742 (GRCm39)	T969K	probably benign	Het
Klhl42	T	C	6: 146,993,810 (GRCm39)	S261P	probably damaging	Het
Lrp1	C	A	10: 127,388,660 (GRCm39)	G3263V	probably damaging	Het
Mid1	A	G	X: 168,710,019 (GRCm39)	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,121,224 (GRCm39)	L698*	probably null	Het
Myh14	T	G	7: 44,273,503 (GRCm39)	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,570,159 (GRCm39)	E267K	probably damaging	Het
Obox5	T	C	7: 15,491,517 (GRCm39)	I19T	possibly damaging	Het
Or13a20	A	G	7: 140,232,305 (GRCm39)		probably null	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcnx1	A	G	12: 82,041,752 (GRCm39)	Y2128C	probably damaging	Het
Prpf4b	T	C	13: 35,072,129 (GRCm39)		probably benign	Het
Psapl1	A	T	5: 36,362,397 (GRCm39)	T330S	probably benign	Het
Rap1gap	A	G	4: 137,447,611 (GRCm39)	T453A	probably damaging	Het
Ric1	T	A	19: 29,544,881 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,840,020 (GRCm39)	E1590G	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Tlr12	A	G	4: 128,511,182 (GRCm39)	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,279,906 (GRCm39)	S8P	possibly damaging	Het
Tyms	C	A	5: 30,269,149 (GRCm39)	V75L	probably benign	Het
Vmn1r230	T	A	17: 21,067,172 (GRCm39)	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,227,356 (GRCm39)		probably benign	Het
Wdr27	C	T	17: 15,138,041 (GRCm39)	A388T	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
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