Mutagenetix > Incidental Mutation

Incidental Mutation 'R8549:Plcb1'

659768

Institutional Source

Beutler Lab

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

MMRRC Submission

068514-MU

Accession Numbers

Essential gene?

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

Stock #

R8549 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134786067-135475258 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135364933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 959 (Y959C)

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: Y959C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: Y959C

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: Y959C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: Y959C

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: Y959C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: Y959C

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: 98.7%

Validation Efficiency

100% (45/45)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,863,197 (GRCm38)		probably null	Het
Aadacl4	G	A	4: 144,623,156 (GRCm38)	V328I	probably benign	Het
Adcy7	A	T	8: 88,326,190 (GRCm38)	H968L	probably benign	Het
Ahnak	G	A	19: 9,011,483 (GRCm38)	G3377E	probably damaging	Het
Ank3	A	G	10: 69,982,182 (GRCm38)	T56A	possibly damaging	Het
Anpep	A	G	7: 79,840,896 (GRCm38)	S291P	probably benign	Het
Arap3	G	A	18: 37,973,312 (GRCm38)	P1493S	probably benign	Het
Bsn	G	A	9: 108,111,452 (GRCm38)	A2367V	probably benign	Het
C1rb	T	C	6: 124,574,539 (GRCm38)	Y203H	probably benign	Het
Caprin1	G	T	2: 103,769,517 (GRCm38)	N604K	probably damaging	Het
Ccdc130	A	T	8: 84,258,770 (GRCm38)	V290E	probably benign	Het
Chrd	A	G	16: 20,741,277 (GRCm38)	E898G	probably benign	Het
Cobll1	T	C	2: 65,098,450 (GRCm38)	D881G	probably damaging	Het
Cyp39a1	T	A	17: 43,730,995 (GRCm38)	D364E	possibly damaging	Het
Defb33	G	A	8: 20,897,578 (GRCm38)	G44R	probably damaging	Het
Ehhadh	A	T	16: 21,766,418 (GRCm38)	S238T	probably benign	Het
Eif5b	G	A	1: 38,037,207 (GRCm38)	R612Q	possibly damaging	Het
Eps8l1	G	T	7: 4,470,854 (GRCm38)	R220L	probably damaging	Het
Frmd8	A	G	19: 5,869,537 (GRCm38)	Y161H	possibly damaging	Het
Gad2	T	A	2: 22,635,047 (GRCm38)		probably null	Het
Gm11639	A	T	11: 104,999,695 (GRCm38)	E4201V	probably damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 142,165,420 (GRCm38)		probably benign	Het
Gm5460	T	C	14: 34,036,935 (GRCm38)	F184L	possibly damaging	Het
Grip2	C	A	6: 91,773,788 (GRCm38)		probably null	Het
Hrh4	T	C	18: 13,022,058 (GRCm38)	F218S	possibly damaging	Het
Ippk	T	C	13: 49,461,701 (GRCm38)	V520A	probably benign	Het
Kif15	T	A	9: 122,986,171 (GRCm38)	Y189N	probably benign	Het
Kif9	T	G	9: 110,514,419 (GRCm38)		probably null	Het
L1td1	T	C	4: 98,738,043 (GRCm38)	F825S	probably damaging	Het
Mcm6	C	T	1: 128,345,948 (GRCm38)	E382K	possibly damaging	Het
Nalcn	T	C	14: 123,370,036 (GRCm38)	T674A	probably benign	Het
Nbeal1	G	A	1: 60,235,562 (GRCm38)		probably null	Het
Nip7	C	A	8: 107,057,973 (GRCm38)		probably null	Het
Npc1l1	A	G	11: 6,218,675 (GRCm38)	F902S	probably damaging	Het
Olfr1298	C	T	2: 111,649,167 (GRCm38)		probably benign	Het
Pcdha6	T	G	18: 36,968,541 (GRCm38)	I262M	possibly damaging	Het
Pcdhga1	T	A	18: 37,833,333 (GRCm38)	*56R	probably null	Het
Rnase9	T	A	14: 51,038,991 (GRCm38)	I177L	probably benign	Het
Rtn3	T	C	19: 7,457,259 (GRCm38)	N437S	probably benign	Het
Rufy3	T	A	5: 88,647,214 (GRCm38)		probably null	Het
Snx29	T	C	16: 11,715,056 (GRCm38)		probably null	Het
Szt2	C	A	4: 118,372,681 (GRCm38)	R2751L	unknown	Het
Tagap	A	G	17: 7,933,965 (GRCm38)	T661A	probably benign	Het
Tcp10b	T	A	17: 13,063,028 (GRCm38)	I95K	probably benign	Het
Topbp1	T	C	9: 103,324,378 (GRCm38)	F637L	probably damaging	Het
Zfp41	C	T	15: 75,618,691 (GRCm38)	T164M	probably benign	Het
Zfp707	T	A	15: 75,974,698 (GRCm38)	I126N	probably benign	Het
Zfp957	T	C	14: 79,213,906 (GRCm38)	E151G	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
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
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'- TCTGTTGCAGAAGTAGAGGCG -3'
(R):5'- CAAGACTAGCCTGGAAAGCG -3'

Sequencing Primer
(F):5'- TAGAGGCGCAAACCATCG -3'
(R):5'- AGCAACTGTGAACTGAAAATACTC -3'

Posted On

2021-01-18