Mutagenetix > Incidental Mutation

Incidental Mutation 'R1445:Plcb4'

158755

Institutional Source

Beutler Lab

Gene Symbol

Plcb4

Ensembl Gene

ENSMUSG00000039943

Gene Name

phospholipase C, beta 4

Synonyms

A930039J07Rik, C230058B11Rik

MMRRC Submission

039500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1445 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

135500931-135856513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135842109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1031 (H1031L)

Ref Sequence

ENSEMBL: ENSMUSP00000105736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035646] [ENSMUST00000110109] [ENSMUST00000147744] [ENSMUST00000184371]

AlphaFold

Q91UZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035646
AA Change: H1031L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: H1031L

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	221	312	1.1e-26	PFAM
PLCXc	313	463	2.68e-79	SMART
low complexity region	498	509	N/A	INTRINSIC
PLCYc	565	681	2.9e-75	SMART
C2	702	801	1.6e-14	SMART
Pfam:DUF1154	909	955	4.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110109
AA Change: H1031L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: H1031L

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	221	312	6.1e-27	PFAM
PLCXc	313	463	2.68e-79	SMART
low complexity region	498	509	N/A	INTRINSIC
PLCYc	565	681	2.9e-75	SMART
C2	702	801	1.6e-14	SMART
Pfam:DUF1154	913	955	1.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147744
AA Change: H92L

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117578
Gene: ENSMUSG00000039943
AA Change: H92L

Domain	Start	End	E-Value	Type
Pfam:DUF1154	1	16	1.7e-7	PFAM
coiled coil region	187	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184371

SMART Domains

Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	221	312	9e-27	PFAM
PLCXc	313	463	2.68e-79	SMART
low complexity region	498	509	N/A	INTRINSIC
PLCYc	565	681	2.9e-75	SMART
C2	702	801	1.6e-14	SMART
Pfam:DUF1154	909	955	4.1e-23	PFAM

Meta Mutation Damage Score

0.2110

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 84.0%

Validation Efficiency

96% (101/105)

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 in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygotes for targeted mutations may exhibit ataxia, impaired elimination of excess climbing fiber synapses in the developing cerebellum, abnormal cerebellar foliation, reduced visual processing ability and loss of circadian rhythm in constant darkness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	G	T	3: 116,861,385 (GRCm39)		noncoding transcript	Het
2300003K06Rik	G	T	11: 99,728,793 (GRCm39)	Q17K	probably benign	Het
Abca16	T	C	7: 120,119,256 (GRCm39)	V999A	probably benign	Het
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Agap2	T	A	10: 126,926,981 (GRCm39)		probably benign	Het
Ago3	C	A	4: 126,265,580 (GRCm39)	R278L	probably benign	Het
Aldh1a2	T	C	9: 71,192,492 (GRCm39)	V449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplnr	A	G	2: 84,967,353 (GRCm39)	Y126C	probably damaging	Het
Apob	T	C	12: 8,066,084 (GRCm39)	I4351T	possibly damaging	Het
Ash1l	T	C	3: 88,914,659 (GRCm39)	L1763P	probably benign	Het
Aspn	T	C	13: 49,710,849 (GRCm39)	S165P	possibly damaging	Het
Atg13	A	T	2: 91,510,335 (GRCm39)	V349E	probably damaging	Het
Atp1b2	T	A	11: 69,493,309 (GRCm39)		probably null	Het
B3glct	A	T	5: 149,677,604 (GRCm39)	D411V	probably damaging	Het
Bcar3	A	T	3: 122,316,840 (GRCm39)	I255F	probably damaging	Het
Cacna1b	G	A	2: 24,608,148 (GRCm39)		probably benign	Het
Cep164	T	G	9: 45,690,198 (GRCm39)	E675A	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chst8	C	A	7: 34,447,593 (GRCm39)	M8I	possibly damaging	Het
Clec4n	A	G	6: 123,212,475 (GRCm39)	E67G	probably benign	Het
Cobll1	A	T	2: 64,929,480 (GRCm39)	D653E	probably damaging	Het
Col9a1	T	C	1: 24,276,579 (GRCm39)		probably null	Het
Crip2	T	C	12: 113,107,124 (GRCm39)	L30P	probably damaging	Het
Ctbp1	C	T	5: 33,418,407 (GRCm39)	V22I	probably benign	Het
Cwc22	T	C	2: 77,747,521 (GRCm39)		probably benign	Het
Cyp4a32	C	A	4: 115,460,147 (GRCm39)	Y119*	probably null	Het
Dido1	G	T	2: 180,313,263 (GRCm39)	A463E	possibly damaging	Het
Dnah7a	G	A	1: 53,567,956 (GRCm39)	P1880L	probably benign	Het
Dock2	T	A	11: 34,189,705 (GRCm39)	T1489S	probably benign	Het
Dsp	A	G	13: 38,375,907 (GRCm39)	T1231A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,717 (GRCm39)		probably benign	Het
Entrep1	G	A	19: 23,998,998 (GRCm39)	T140M	probably damaging	Het
Epc1	A	T	18: 6,452,360 (GRCm39)	M233K	probably damaging	Het
Gigyf2	A	G	1: 87,371,360 (GRCm39)		probably benign	Het
Greb1	T	G	12: 16,757,852 (GRCm39)	H58P	probably damaging	Het
Gtpbp1	T	C	15: 79,597,649 (GRCm39)	I348T	possibly damaging	Het
Hck	A	T	2: 152,970,192 (GRCm39)	N64Y	probably benign	Het
Herc2	T	C	7: 55,818,744 (GRCm39)	S2812P	probably damaging	Het
Inpp4b	T	A	8: 82,679,463 (GRCm39)		probably null	Het
Kcnq5	A	C	1: 21,475,248 (GRCm39)	S473A	probably benign	Het
Lrat	T	G	3: 82,810,676 (GRCm39)	D115A	probably damaging	Het
Lyst	A	G	13: 13,814,639 (GRCm39)	I1131M	possibly damaging	Het
Man2a2	T	C	7: 80,018,310 (GRCm39)	D160G	probably benign	Het
Marf1	C	T	16: 13,933,688 (GRCm39)	D1567N	probably benign	Het
Mars1	T	C	10: 127,133,857 (GRCm39)	D680G	possibly damaging	Het
Mat1a	T	C	14: 40,843,797 (GRCm39)	S339P	probably damaging	Het
Megf8	T	C	7: 25,042,081 (GRCm39)	S1300P	probably damaging	Het
Mga	T	C	2: 119,733,179 (GRCm39)	L9S	probably damaging	Het
Mllt6	T	C	11: 97,563,277 (GRCm39)		probably benign	Het
Mrpl37	A	G	4: 106,921,692 (GRCm39)	L179P	probably benign	Het
Mtnr1a	G	T	8: 45,540,782 (GRCm39)	V248L	probably benign	Het
Mylk	T	C	16: 34,635,835 (GRCm39)	S19P	possibly damaging	Het
Or11g1	A	G	14: 50,651,858 (GRCm39)	T286A	probably damaging	Het
Pacc1	A	G	1: 191,080,559 (GRCm39)		probably benign	Het
Parp8	A	T	13: 117,161,886 (GRCm39)		probably null	Het
Pcnx2	T	C	8: 126,479,023 (GRCm39)	D2075G	probably damaging	Het
Pigo	A	T	4: 43,021,460 (GRCm39)	I494K	probably benign	Het
Pkd1l1	A	T	11: 8,820,313 (GRCm39)	D1217E	probably benign	Het
Pkhd1l1	T	C	15: 44,369,040 (GRCm39)	V895A	probably benign	Het
Plxnb1	A	G	9: 108,937,989 (GRCm39)	K1245R	probably null	Het
Pold1	C	T	7: 44,192,181 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,498,423 (GRCm39)	I885V	probably damaging	Het
Ptprz1	A	G	6: 23,050,473 (GRCm39)	D1398G	probably damaging	Het
Pygm	G	A	19: 6,439,917 (GRCm39)	A364T	probably benign	Het
Rbl1	T	C	2: 157,035,018 (GRCm39)	N354S	probably benign	Het
Scgb2b19	C	T	7: 32,979,037 (GRCm39)		probably null	Het
Slc26a8	C	T	17: 28,867,187 (GRCm39)	V545M	possibly damaging	Het
Slc27a1	T	A	8: 72,036,757 (GRCm39)		probably null	Het
Smpd1	A	G	7: 105,205,881 (GRCm39)	D416G	possibly damaging	Het
Sorbs3	A	G	14: 70,431,095 (GRCm39)	V284A	probably benign	Het
Stfa2l1	T	C	16: 35,982,154 (GRCm39)	V75A	probably damaging	Het
Syndig1	A	G	2: 149,772,841 (GRCm39)	D166G	probably damaging	Het
Tcp10a	G	A	17: 7,593,406 (GRCm39)		probably null	Het
Themis2	T	A	4: 132,510,212 (GRCm39)	I663F	possibly damaging	Het
Thrap3	T	C	4: 126,070,129 (GRCm39)	Q586R	probably damaging	Het
Tinag	C	A	9: 76,952,798 (GRCm39)	C62F	probably damaging	Het
Tmod1	T	C	4: 46,090,884 (GRCm39)	Y146H	probably damaging	Het
Tmprss4	T	A	9: 45,095,683 (GRCm39)	I54F	possibly damaging	Het
Tnks	A	C	8: 35,301,757 (GRCm39)		probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,680,538 (GRCm39)	E844G	probably benign	Het
Ubtd2	C	T	11: 32,466,125 (GRCm39)	R115W	probably damaging	Het
Ubxn6	T	C	17: 56,376,042 (GRCm39)	D373G	probably benign	Het
Upf1	T	A	8: 70,794,174 (GRCm39)	Q244L	probably benign	Het
Usp33	A	G	3: 152,074,271 (GRCm39)	I372M	probably damaging	Het
Usp34	A	G	11: 23,301,629 (GRCm39)	E351G	probably damaging	Het
Utrn	A	G	10: 12,554,318 (GRCm39)		probably benign	Het
Vmn1r78	A	G	7: 11,886,508 (GRCm39)	K40E	possibly damaging	Het
Vmn2r7	T	A	3: 64,632,223 (GRCm39)	M80L	probably benign	Het
Vps13a	G	T	19: 16,678,602 (GRCm39)	Y1126*	probably null	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Wnk2	C	T	13: 49,224,586 (GRCm39)	D992N	probably damaging	Het
Zpbp2	C	A	11: 98,444,670 (GRCm39)	T66K	probably damaging	Het

Other mutations in Plcb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Plcb4	APN	2	135,813,718 (GRCm39)	missense	probably benign	0.26
IGL01405:Plcb4	APN	2	135,792,267 (GRCm39)	missense	probably damaging	1.00
IGL01522:Plcb4	APN	2	135,844,547 (GRCm39)	missense	probably damaging	1.00
IGL01589:Plcb4	APN	2	135,809,038 (GRCm39)	missense	probably benign
IGL02090:Plcb4	APN	2	135,789,041 (GRCm39)	missense	probably benign	0.00
IGL02247:Plcb4	APN	2	135,836,245 (GRCm39)	missense	possibly damaging	0.95
IGL02259:Plcb4	APN	2	135,752,166 (GRCm39)	critical splice donor site	probably null
IGL02338:Plcb4	APN	2	135,842,100 (GRCm39)	missense	possibly damaging	0.87
IGL02625:Plcb4	APN	2	135,803,714 (GRCm39)	missense	probably benign	0.19
IGL03026:Plcb4	APN	2	135,792,349 (GRCm39)	splice site	probably benign
IGL03111:Plcb4	APN	2	135,818,202 (GRCm39)	missense	probably damaging	1.00
R0044:Plcb4	UTSW	2	135,813,776 (GRCm39)	missense	probably damaging	1.00
R0066:Plcb4	UTSW	2	135,803,689 (GRCm39)	missense	probably benign	0.10
R0066:Plcb4	UTSW	2	135,803,689 (GRCm39)	missense	probably benign	0.10
R0143:Plcb4	UTSW	2	135,818,131 (GRCm39)	missense	probably damaging	1.00
R0234:Plcb4	UTSW	2	135,823,995 (GRCm39)	missense	probably benign	0.00
R0234:Plcb4	UTSW	2	135,823,995 (GRCm39)	missense	probably benign	0.00
R0348:Plcb4	UTSW	2	135,810,339 (GRCm39)	missense	probably damaging	1.00
R0557:Plcb4	UTSW	2	135,796,269 (GRCm39)	missense	probably damaging	0.99
R0591:Plcb4	UTSW	2	135,796,932 (GRCm39)	splice site	probably benign
R0975:Plcb4	UTSW	2	135,829,832 (GRCm39)	splice site	probably benign
R1187:Plcb4	UTSW	2	135,810,314 (GRCm39)	missense	probably benign	0.36
R1235:Plcb4	UTSW	2	135,814,868 (GRCm39)	missense	probably damaging	1.00
R1562:Plcb4	UTSW	2	135,812,367 (GRCm39)	critical splice donor site	probably null
R1594:Plcb4	UTSW	2	135,812,310 (GRCm39)	splice site	probably benign
R1920:Plcb4	UTSW	2	135,854,947 (GRCm39)	missense	probably damaging	1.00
R2041:Plcb4	UTSW	2	135,780,191 (GRCm39)	missense	probably damaging	1.00
R2141:Plcb4	UTSW	2	135,818,019 (GRCm39)	missense	probably damaging	1.00
R2142:Plcb4	UTSW	2	135,818,019 (GRCm39)	missense	probably damaging	1.00
R2202:Plcb4	UTSW	2	135,844,514 (GRCm39)	missense	probably benign	0.01
R2203:Plcb4	UTSW	2	135,844,514 (GRCm39)	missense	probably benign	0.01
R2204:Plcb4	UTSW	2	135,844,514 (GRCm39)	missense	probably benign	0.01
R2250:Plcb4	UTSW	2	135,813,781 (GRCm39)	critical splice donor site	probably null
R2291:Plcb4	UTSW	2	135,781,903 (GRCm39)	missense	probably benign	0.08
R2326:Plcb4	UTSW	2	135,781,893 (GRCm39)	missense	probably damaging	0.99
R2442:Plcb4	UTSW	2	135,792,302 (GRCm39)	missense	probably damaging	1.00
R2939:Plcb4	UTSW	2	135,781,123 (GRCm39)	splice site	probably benign
R3774:Plcb4	UTSW	2	135,800,065 (GRCm39)	missense	probably benign	0.00
R3875:Plcb4	UTSW	2	135,844,552 (GRCm39)	missense	probably damaging	0.99
R4594:Plcb4	UTSW	2	135,844,519 (GRCm39)	missense	probably damaging	0.98
R4673:Plcb4	UTSW	2	135,774,191 (GRCm39)	missense	possibly damaging	0.68
R4812:Plcb4	UTSW	2	135,849,801 (GRCm39)	missense	probably damaging	1.00
R5084:Plcb4	UTSW	2	135,844,571 (GRCm39)	missense	probably damaging	1.00
R5468:Plcb4	UTSW	2	135,809,072 (GRCm39)	missense	probably damaging	1.00
R5498:Plcb4	UTSW	2	135,818,092 (GRCm39)	missense	probably damaging	1.00
R5923:Plcb4	UTSW	2	135,803,734 (GRCm39)	nonsense	probably null
R6241:Plcb4	UTSW	2	135,752,094 (GRCm39)	missense	possibly damaging	0.80
R6492:Plcb4	UTSW	2	135,814,991 (GRCm39)	nonsense	probably null
R6514:Plcb4	UTSW	2	135,796,916 (GRCm39)	missense	probably benign	0.22
R6570:Plcb4	UTSW	2	135,824,906 (GRCm39)	missense	probably benign	0.13
R6721:Plcb4	UTSW	2	135,752,157 (GRCm39)	missense	probably benign	0.01
R6915:Plcb4	UTSW	2	135,789,035 (GRCm39)	missense	possibly damaging	0.84
R6991:Plcb4	UTSW	2	135,752,114 (GRCm39)	missense	probably damaging	1.00
R7040:Plcb4	UTSW	2	135,774,182 (GRCm39)	missense	probably benign
R7086:Plcb4	UTSW	2	135,849,767 (GRCm39)	missense	probably benign
R7114:Plcb4	UTSW	2	135,824,043 (GRCm39)	critical splice donor site	probably null
R7249:Plcb4	UTSW	2	135,849,741 (GRCm39)	critical splice acceptor site	probably null
R7264:Plcb4	UTSW	2	135,807,000 (GRCm39)	missense	probably benign
R7361:Plcb4	UTSW	2	135,818,068 (GRCm39)	missense	possibly damaging	0.82
R7426:Plcb4	UTSW	2	135,842,139 (GRCm39)	missense	probably benign	0.00
R7429:Plcb4	UTSW	2	135,810,242 (GRCm39)	missense	probably damaging	1.00
R7430:Plcb4	UTSW	2	135,810,242 (GRCm39)	missense	probably damaging	1.00
R8010:Plcb4	UTSW	2	135,749,480 (GRCm39)	missense	probably benign	0.00
R8141:Plcb4	UTSW	2	135,781,169 (GRCm39)	missense	probably damaging	1.00
R9072:Plcb4	UTSW	2	135,849,795 (GRCm39)	missense	possibly damaging	0.93
R9119:Plcb4	UTSW	2	135,809,872 (GRCm39)	missense	probably damaging	1.00
R9287:Plcb4	UTSW	2	135,829,817 (GRCm39)	missense	probably benign	0.00
R9448:Plcb4	UTSW	2	135,752,045 (GRCm39)	missense	possibly damaging	0.47
R9578:Plcb4	UTSW	2	135,829,444 (GRCm39)	missense	probably benign	0.00
Z1177:Plcb4	UTSW	2	135,800,658 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTGTTCAGACCTGTGGACTGAC -3'
(R):5'- ATAGCAGTATGGCATCTGGCCCTC -3'

Sequencing Primer
(F):5'- CTACTTAACAGCCAGAGTGGTG -3'
(R):5'- TCCCACCTGTCATGGGAGAG -3'

Posted On

2014-03-14