Mutagenetix > Incidental Mutation

Incidental Mutation 'R8394:Plcb1'

647517

Institutional Source

Beutler Lab

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

MMRRC Submission

067758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R8394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134786067-135475258 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135317790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 391 (V391A)

Ref Sequence

ENSEMBL: ENSMUSP00000105743 (fasta)

Gene Model

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

AlphaFold

Q9Z1B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070724
AA Change: V391A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: V391A

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: V391A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: V391A

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 damaging
Transcript: ENSMUST00000131552
AA Change: V391A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: V391A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
1700129C05Rik	T	C	14: 59,142,174 (GRCm38)	N137S	probably benign	Het
4930505A04Rik	T	A	11: 30,454,880 (GRCm38)		probably null	Het
Abcc8	A	G	7: 46,154,553 (GRCm38)	I399T	probably benign	Het
Aldh3b2	A	C	19: 3,979,461 (GRCm38)	Q278P	probably benign	Het
Arl8b	A	G	6: 108,783,283 (GRCm38)	D10G	possibly damaging	Het
Baiap3	T	C	17: 25,250,122 (GRCm38)	N229S	probably benign	Het
Chrdl2	T	C	7: 100,017,085 (GRCm38)	S71P	possibly damaging	Het
Cmbl	A	G	15: 31,585,395 (GRCm38)	M142V	possibly damaging	Het
Cpt1b	A	G	15: 89,422,287 (GRCm38)		probably null	Het
Crybg3	T	C	16: 59,558,288 (GRCm38)	K868E	probably benign	Het
Efl1	A	G	7: 82,762,778 (GRCm38)	I792V	probably benign	Het
Evx2	A	G	2: 74,655,977 (GRCm38)	L356S	probably benign	Het
Hspa14	C	T	2: 3,512,633 (GRCm38)		probably null	Het
Ighv5-8	C	T	12: 113,655,193 (GRCm38)	A76V	unknown	Het
Il7r	A	G	15: 9,516,418 (GRCm38)	F99S	probably damaging	Het
Klra2	A	T	6: 131,245,310 (GRCm38)	V6D	possibly damaging	Het
Lce3c	T	C	3: 92,945,453 (GRCm38)	S74P	unknown	Het
Nectin2	C	T	7: 19,733,212 (GRCm38)		probably null	Het
Nfil3	A	G	13: 52,967,813 (GRCm38)	S352P	probably benign	Het
Nme6	T	A	9: 109,835,326 (GRCm38)	M1K	probably null	Het
Olfr618	A	T	7: 103,598,197 (GRCm38)	I294F	probably damaging	Het
Otogl	A	G	10: 107,886,465 (GRCm38)		probably null	Het
Ptf1a	T	A	2: 19,445,935 (GRCm38)	D25E	probably damaging	Het
Ralbp1	C	T	17: 65,852,753 (GRCm38)	R505H	probably benign	Het
Scube1	T	C	15: 83,608,291 (GRCm38)	Y944C	probably damaging	Het
Sdk2	A	G	11: 113,838,716 (GRCm38)	I1039T	probably benign	Het
Senp7	G	T	16: 56,169,827 (GRCm38)	W646L	possibly damaging	Het
Sphkap	A	T	1: 83,276,076 (GRCm38)	N1317K	probably benign	Het
Strc	G	T	2: 121,379,009 (GRCm38)	Q278K	probably benign	Het
Tbc1d30	T	A	10: 121,347,108 (GRCm38)	R142*	probably null	Het
Tmtc3	T	C	10: 100,446,946 (GRCm38)	I916V	probably damaging	Het
Tomm40l	A	T	1: 171,221,207 (GRCm38)	H79Q	probably damaging	Het
Txndc12	T	A	4: 108,856,223 (GRCm38)		probably null	Het
Vmn2r2	T	C	3: 64,137,437 (GRCm38)	N96S	probably damaging	Het
Vmn2r27	T	C	6: 124,191,817 (GRCm38)	T785A	possibly damaging	Het
Zfp217	G	A	2: 170,119,651 (GRCm38)	S252F	possibly damaging	Het
Zfp462	A	G	4: 55,011,862 (GRCm38)	D1276G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCTATGATCTGGGCACATC -3'
(R):5'- TGCCACTTACGATACAACAGGATG -3'

Sequencing Primer
(F):5'- TGATCTGGGCACATCCTAAGTAG -3'
(R):5'- GATGGAAAAACACCAATGCTGATATC -3'

Posted On

2020-09-02