Mutagenetix > Incidental Mutation

Incidental Mutation 'R7361:Plcb4'

571308

Institutional Source

Beutler Lab

Gene Symbol

Plcb4

Ensembl Gene

ENSMUSG00000039943

Gene Name

phospholipase C, beta 4

Synonyms

A930039J07Rik, C230058B11Rik

MMRRC Submission

045447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135500931-135856513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135818068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 790 (N790I)

Ref Sequence

ENSEMBL: ENSMUSP00000117638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035646] [ENSMUST00000110109] [ENSMUST00000134310] [ENSMUST00000184371]

AlphaFold

Q91UZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035646
AA Change: N778I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: N778I

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

probably damaging
Transcript: ENSMUST00000110109
AA Change: N778I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: N778I

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

possibly damaging
Transcript: ENSMUST00000134310
AA Change: N790I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: N790I

Domain	Start	End	E-Value	Type
Pfam:EF-hand_like	221	312	2.5e-27	PFAM
PLCXc	313	463	2.68e-79	SMART
low complexity region	498	509	N/A	INTRINSIC
PLCYc	577	693	2.9e-75	SMART
C2	714	813	1.6e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000184371
AA Change: N778I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: N778I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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 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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	C	T	6: 132,604,434 (GRCm39)	V4I	unknown	Het
Actn1	A	T	12: 80,240,489 (GRCm39)	D199E	probably benign	Het
Adam17	T	C	12: 21,375,602 (GRCm39)	D739G	probably damaging	Het
Agmat	T	C	4: 141,474,163 (GRCm39)	S15P	probably benign	Het
Ahsa2	A	G	11: 23,441,099 (GRCm39)	S229P	probably damaging	Het
Arhgef3	A	G	14: 26,987,535 (GRCm39)	D36G	possibly damaging	Het
C6	C	A	15: 4,826,404 (GRCm39)	Y662*	probably null	Het
Ccs	T	C	19: 4,883,378 (GRCm39)	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,312,039 (GRCm39)	L65P	probably damaging	Het
Cdh24	A	T	14: 54,876,378 (GRCm39)	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,101,294 (GRCm39)	S384*	probably null	Het
Cep350	G	A	1: 155,777,237 (GRCm39)	A1701V	probably damaging	Het
Ces1g	T	C	8: 94,060,307 (GRCm39)	Q104R	not run	Het
Chd5	A	G	4: 152,447,745 (GRCm39)	H537R	probably damaging	Het
Cln5	T	A	14: 103,313,339 (GRCm39)	V197D	probably damaging	Het
Coq7	A	G	7: 118,128,798 (GRCm39)	V79A	probably benign	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Cplx2	A	T	13: 54,526,639 (GRCm39)	M16L	probably benign	Het
Crot	A	G	5: 9,027,534 (GRCm39)	L266S	probably damaging	Het
Ctbs	T	A	3: 146,164,509 (GRCm39)	Y221N	probably damaging	Het
Cul7	T	A	17: 46,967,933 (GRCm39)	L707Q	probably damaging	Het
D430041D05Rik	G	A	2: 104,085,363 (GRCm39)	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,599,953 (GRCm39)	I364V	probably damaging	Het
Dnah11	T	A	12: 117,982,477 (GRCm39)	H2564L	probably damaging	Het
Dnajc3	T	C	14: 119,175,576 (GRCm39)	Y26H	probably benign	Het
Dpysl2	G	A	14: 67,071,664 (GRCm39)	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,746,713 (GRCm39)	K423I	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,170 (GRCm39)	N11D	unknown	Het
Enpp7	A	G	11: 118,882,985 (GRCm39)	N353S	probably benign	Het
Ext1	G	A	15: 53,208,119 (GRCm39)	A214V	probably damaging	Het
Fbh1	A	T	2: 11,751,887 (GRCm39)	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,207,800 (GRCm39)	Y51H	possibly damaging	Het
Firrm	A	T	1: 163,813,602 (GRCm39)	D207E	possibly damaging	Het
Fry	A	G	5: 150,360,312 (GRCm39)	H1986R	possibly damaging	Het
Grem2	T	C	1: 174,664,514 (GRCm39)	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,005,027 (GRCm39)	V586A	probably damaging	Het
Il12rb2	G	T	6: 67,280,450 (GRCm39)	L586I	possibly damaging	Het
Il18	T	C	9: 50,490,614 (GRCm39)	I83T	probably damaging	Het
Irs1	A	T	1: 82,266,835 (GRCm39)	Y460*	probably null	Het
Jak1	G	T	4: 101,041,536 (GRCm39)	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,276,148 (GRCm39)	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,054,143 (GRCm39)	Q16K	probably benign	Het
Kidins220	T	C	12: 25,106,999 (GRCm39)	L1393P	probably benign	Het
Klhl24	A	C	16: 19,936,750 (GRCm39)	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,505,420 (GRCm39)	D64N	probably damaging	Het
Man1a	T	A	10: 53,784,105 (GRCm39)	D592V	probably damaging	Het
Mepe	T	A	5: 104,485,009 (GRCm39)	Y50N	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670 (GRCm38)	S1515T	probably benign	Het
Nalcn	T	C	14: 123,529,251 (GRCm39)	D1408G	probably benign	Het
Nav1	T	C	1: 135,380,591 (GRCm39)	M1443V	unknown	Het
Nckap1l	A	C	15: 103,379,709 (GRCm39)	N332T	possibly damaging	Het
Neurl4	T	A	11: 69,802,905 (GRCm39)	L1467Q	probably benign	Het
Notch2	A	G	3: 98,038,718 (GRCm39)	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203 (GRCm39)	P579S	probably benign	Het
Nrxn2	A	T	19: 6,567,112 (GRCm39)	H1329L	probably benign	Het
Nynrin	A	T	14: 56,107,857 (GRCm39)	H988L	possibly damaging	Het
Or1e34	T	A	11: 73,778,827 (GRCm39)	I124F	probably damaging	Het
Or4c31	A	G	2: 88,291,836 (GRCm39)	T70A	probably benign	Het
Or4c3d	A	G	2: 89,882,089 (GRCm39)	I193T	probably benign	Het
Or52e3	G	T	7: 102,869,830 (GRCm39)	D302Y	possibly damaging	Het
Or7g35	T	A	9: 19,495,856 (GRCm39)	F8I	probably benign	Het
Pclo	G	A	5: 14,843,882 (GRCm39)	S1534N	probably damaging	Het
Pign	A	G	1: 105,512,778 (GRCm39)	V635A	probably benign	Het
Pkhd1	T	C	1: 20,664,177 (GRCm39)	T134A	probably damaging	Het
Plxna2	G	T	1: 194,482,087 (GRCm39)	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,173,057 (GRCm39)		probably null	Het
Pnpla2	A	G	7: 141,037,344 (GRCm39)	I116V	possibly damaging	Het
Polq	A	G	16: 36,880,790 (GRCm39)	T985A	probably benign	Het
Pramel11	T	C	4: 143,622,456 (GRCm39)	T300A	possibly damaging	Het
Prex1	T	C	2: 166,555,490 (GRCm39)	N50S	probably benign	Het
Ptgfrn	G	A	3: 100,984,760 (GRCm39)	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782 (GRCm39)	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,809,364 (GRCm39)	L931S	probably benign	Het
Saxo4	T	G	19: 10,456,943 (GRCm39)	D134A	probably damaging	Het
Sipa1l2	A	G	8: 126,180,071 (GRCm39)	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305 (GRCm39)	N341K	probably damaging	Het
Smg1	A	C	7: 117,784,200 (GRCm39)	D958E	unknown	Het
Smg6	T	A	11: 74,820,979 (GRCm39)	S417T	probably benign	Het
Srgap3	A	G	6: 112,723,882 (GRCm39)	V550A	probably damaging	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Tet3	A	G	6: 83,345,076 (GRCm39)	V1787A	probably benign	Het
Tor1a	A	T	2: 30,853,753 (GRCm39)	D192E	probably benign	Het
Tpr	T	C	1: 150,323,372 (GRCm39)	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,728,163 (GRCm39)	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,151,203 (GRCm39)	L797P	probably damaging	Het
Tut1	T	C	19: 8,942,698 (GRCm39)	L595P	probably damaging	Het
Ubl7	T	C	9: 57,821,905 (GRCm39)	S85P	probably damaging	Het
Urb1	C	A	16: 90,571,656 (GRCm39)	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,418,084 (GRCm39)	W353R	probably damaging	Het
Usp44	T	C	10: 93,682,330 (GRCm39)	L260S	probably benign	Het
Wsb1	T	A	11: 79,131,623 (GRCm39)		probably null	Het
Xrcc2	A	T	5: 25,897,755 (GRCm39)	C65S	probably damaging	Het
Zfp316	T	A	5: 143,240,430 (GRCm39)	M530L	probably benign	Het
Zfp473	T	C	7: 44,382,563 (GRCm39)	H590R	probably damaging	Het
Zfp983	T	A	17: 21,880,850 (GRCm39)	H259Q	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
R1445:Plcb4	UTSW	2	135,842,109 (GRCm39)	missense	possibly damaging	0.90
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
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'- AGTCATGCAAGTGGCTCATTG -3'
(R):5'- TCATAATGCAGGACCTCTTGTAC -3'

Sequencing Primer
(F):5'- CTCATTGGTTTGTTTTCACCATGAAG -3'
(R):5'- AATGCAGGACCTCTTGTACACTGTC -3'

Posted On

2019-09-13