Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:Plcb1'

572561

Institutional Source

Beutler Lab

Gene Symbol

Plcb1

Ensembl Gene

ENSMUSG00000051177

Gene Name

phospholipase C, beta 1

Synonyms

3110043I21Rik

MMRRC Submission

045461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R7379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134628084-135317178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135212430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1007 (D1007G)

Ref Sequence

ENSEMBL: ENSMUSP00000105743 (fasta)

Gene Model

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

AlphaFold

Q9Z1B3

Predicted Effect

probably benign
Transcript: ENSMUST00000070724
AA Change: D1007G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: D1007G

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: D1007G

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: D1007G

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: D1007G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: D1007G

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

Meta Mutation Damage Score

0.1099

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 66,292,242 (GRCm39)	R1064*	probably null	Het
Ccdc149	A	G	5: 52,562,408 (GRCm39)	I206T	probably damaging	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,326,490 (GRCm39)		probably benign	Het
Cyp2j6	T	C	4: 96,414,183 (GRCm39)	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,350,907 (GRCm39)		probably null	Het
Cyp7b1	A	G	3: 18,151,538 (GRCm39)	V225A	probably benign	Het
Esf1	A	G	2: 139,996,854 (GRCm39)	I503T	probably benign	Het
Flrt2	G	A	12: 95,747,329 (GRCm39)	V556I	possibly damaging	Het
Gaa	T	C	11: 119,174,525 (GRCm39)	S791P	probably benign	Het
H2-T22	A	G	17: 36,353,232 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,672 (GRCm39)	S342P	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ift57	A	G	16: 49,581,357 (GRCm39)	E341G	probably damaging	Het
Itpkc	A	T	7: 26,927,194 (GRCm39)	I240K	probably benign	Het
Kit	A	T	5: 75,808,412 (GRCm39)	S719C	probably damaging	Het
Klf1	T	A	8: 85,629,846 (GRCm39)	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,769,709 (GRCm39)	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,802,899 (GRCm39)	D347E	probably damaging	Het
Map1s	A	G	8: 71,366,219 (GRCm39)	T375A	possibly damaging	Het
Mturn	A	G	6: 54,666,069 (GRCm39)	T81A	possibly damaging	Het
Mug2	A	G	6: 122,024,446 (GRCm39)	E506G	possibly damaging	Het
Notch1	A	G	2: 26,369,479 (GRCm39)	F512S	probably damaging	Het
Or10g1	T	C	14: 52,647,718 (GRCm39)	T204A	probably benign	Het
Or12e13	T	A	2: 87,664,123 (GRCm39)	C247S	probably damaging	Het
Or4c12b	T	A	2: 89,647,033 (GRCm39)	V115E	probably benign	Het
Or9s14	G	T	1: 92,536,189 (GRCm39)	C210F	possibly damaging	Het
Pcdhga10	A	G	18: 37,880,619 (GRCm39)	N127D	probably damaging	Het
Plb1	A	G	5: 32,502,983 (GRCm39)	I1148V	probably damaging	Het
Prdm16	T	A	4: 154,613,316 (GRCm39)	E37V	probably damaging	Het
Prss45	C	A	9: 110,668,261 (GRCm39)	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981 (GRCm39)	K513*	probably null	Het
Serpinb10	T	C	1: 107,460,117 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,334,129 (GRCm39)	V402A	probably benign	Het
Slc25a38	T	A	9: 119,949,902 (GRCm39)	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,313,798 (GRCm39)	K514*	probably null	Het
Sorcs3	T	C	19: 48,760,705 (GRCm39)	V911A	possibly damaging	Het
Sptb	A	T	12: 76,657,651 (GRCm39)	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,089,292 (GRCm39)	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,735,068 (GRCm39)		probably null	Het
Stx2	A	G	5: 129,064,863 (GRCm39)	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902 (GRCm39)	N558I	probably benign	Het
Trpm2	T	C	10: 77,750,568 (GRCm39)	T1343A	probably benign	Het
Usf3	T	A	16: 44,040,939 (GRCm39)	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,488,037 (GRCm39)	M787I	possibly damaging	Het
Wdfy4	A	G	14: 32,873,566 (GRCm39)	S248P		Het
Zeb2	G	T	2: 44,891,829 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTACATCCAAGCCCAGTGG -3'
(R):5'- ACGCTGTTGCCATACACTTCTG -3'

Sequencing Primer
(F):5'- CCAGTGGCCTTGAGAGGAG -3'
(R):5'- GCCATACACTTCTGCCCTGTG -3'

Posted On

2019-09-13