Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Plcb4'

301026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcb4

Ensembl Gene

ENSMUSG00000039943

Gene Name

phospholipase C, beta 4

Synonyms

A930039J07Rik, C230058B11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

135659011-136014593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135961794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 529 (E529G)

Ref Sequence

ENSEMBL: ENSMUSP00000139274 (fasta)

Gene Model

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

AlphaFold

Q91UZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000035646
AA Change: E529G

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

SMART Domains

Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: E529G

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 benign
Transcript: ENSMUST00000110109
AA Change: E529G

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

SMART Domains

Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: E529G

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: ENSMUST00000134310
AA Change: E529G

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: E529G

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 benign
Transcript: ENSMUST00000184371
AA Change: E529G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: E529G

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,746,347	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,580,213	E53D	probably benign	Het
Ccr4	A	C	9: 114,492,333	C221W	probably damaging	Het
Ces2a	G	A	8: 104,740,278		probably null	Het
Chpf2	G	T	5: 24,591,711	E552*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,927,146	R207H	probably benign	Het
Dock2	A	G	11: 34,501,168		probably null	Het
Esr1	A	T	10: 5,001,346	T575S	probably benign	Het
Fancc	A	G	13: 63,398,151	C93R	probably damaging	Het
Foxj3	A	T	4: 119,624,917	R523W	unknown	Het
Fryl	C	T	5: 73,069,877		probably benign	Het
Fsip2	A	C	2: 82,949,492	H194P	probably benign	Het
Gaa	G	A	11: 119,274,733	V350I	probably damaging	Het
Gpn3	T	A	5: 122,381,194	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,367,525	H136L	probably benign	Het
Hist4h4	C	T	6: 136,804,337		probably benign	Het
Hspg2	A	G	4: 137,512,642	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422	E728G	probably benign	Het
Kat14	G	A	2: 144,402,445	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,363,832	D863E	probably damaging	Het
Lrp1	A	G	10: 127,574,486	Y1464H	probably damaging	Het
Map4	T	C	9: 110,064,417	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,199,271	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,923,500	I506M	probably benign	Het
Nudt17	G	A	3: 96,706,464	R266W	probably damaging	Het
Olfr1241	A	G	2: 89,482,674	S154P	probably damaging	Het
Olfr1256	A	G	2: 89,835,396	L183P	probably damaging	Het
Olfr651	A	G	7: 104,553,573	Y218C	probably damaging	Het
Prss32	A	T	17: 23,856,236	I187F	possibly damaging	Het
Prss55	A	T	14: 64,079,369	I108K	probably damaging	Het
Rcl1	A	G	19: 29,118,341	M109V	probably benign	Het
Rho	A	T	6: 115,935,197	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,170,691	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,660,123		probably null	Het
Stx11	T	A	10: 12,941,917	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,836,907		probably benign	Het
Tcf12	C	A	9: 71,922,757	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,370,546	M296T	probably damaging	Het
Trim13	T	A	14: 61,605,550	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,095,517	K133E	possibly damaging	Het
Usp40	A	G	1: 87,950,017	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,452,912	N240T	probably damaging	Het
Wdr36	T	C	18: 32,859,261	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wdr6	T	C	9: 108,575,505	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,534,185		probably benign	Het

Other mutations in Plcb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Plcb4	APN	2	135971798	missense	probably benign	0.26
IGL01405:Plcb4	APN	2	135950347	missense	probably damaging	1.00
IGL01522:Plcb4	APN	2	136002627	missense	probably damaging	1.00
IGL01589:Plcb4	APN	2	135967118	missense	probably benign
IGL02090:Plcb4	APN	2	135947121	missense	probably benign	0.00
IGL02247:Plcb4	APN	2	135994325	missense	possibly damaging	0.95
IGL02259:Plcb4	APN	2	135910246	critical splice donor site	probably null
IGL02338:Plcb4	APN	2	136000180	missense	possibly damaging	0.87
IGL03026:Plcb4	APN	2	135950429	splice site	probably benign
IGL03111:Plcb4	APN	2	135976282	missense	probably damaging	1.00
R0044:Plcb4	UTSW	2	135971856	missense	probably damaging	1.00
R0066:Plcb4	UTSW	2	135961769	missense	probably benign	0.10
R0066:Plcb4	UTSW	2	135961769	missense	probably benign	0.10
R0143:Plcb4	UTSW	2	135976211	missense	probably damaging	1.00
R0234:Plcb4	UTSW	2	135982075	missense	probably benign	0.00
R0234:Plcb4	UTSW	2	135982075	missense	probably benign	0.00
R0348:Plcb4	UTSW	2	135968419	missense	probably damaging	1.00
R0557:Plcb4	UTSW	2	135954349	missense	probably damaging	0.99
R0591:Plcb4	UTSW	2	135955012	splice site	probably benign
R0975:Plcb4	UTSW	2	135987912	splice site	probably benign
R1187:Plcb4	UTSW	2	135968394	missense	probably benign	0.36
R1235:Plcb4	UTSW	2	135972948	missense	probably damaging	1.00
R1445:Plcb4	UTSW	2	136000189	missense	possibly damaging	0.90
R1562:Plcb4	UTSW	2	135970447	critical splice donor site	probably null
R1594:Plcb4	UTSW	2	135970390	splice site	probably benign
R1920:Plcb4	UTSW	2	136013027	missense	probably damaging	1.00
R2041:Plcb4	UTSW	2	135938271	missense	probably damaging	1.00
R2141:Plcb4	UTSW	2	135976099	missense	probably damaging	1.00
R2142:Plcb4	UTSW	2	135976099	missense	probably damaging	1.00
R2202:Plcb4	UTSW	2	136002594	missense	probably benign	0.01
R2203:Plcb4	UTSW	2	136002594	missense	probably benign	0.01
R2204:Plcb4	UTSW	2	136002594	missense	probably benign	0.01
R2250:Plcb4	UTSW	2	135971861	critical splice donor site	probably null
R2291:Plcb4	UTSW	2	135939983	missense	probably benign	0.08
R2326:Plcb4	UTSW	2	135939973	missense	probably damaging	0.99
R2442:Plcb4	UTSW	2	135950382	missense	probably damaging	1.00
R2939:Plcb4	UTSW	2	135939203	splice site	probably benign
R3774:Plcb4	UTSW	2	135958145	missense	probably benign	0.00
R3875:Plcb4	UTSW	2	136002632	missense	probably damaging	0.99
R4594:Plcb4	UTSW	2	136002599	missense	probably damaging	0.98
R4673:Plcb4	UTSW	2	135932271	missense	possibly damaging	0.68
R4812:Plcb4	UTSW	2	136007881	missense	probably damaging	1.00
R5084:Plcb4	UTSW	2	136002651	missense	probably damaging	1.00
R5468:Plcb4	UTSW	2	135967152	missense	probably damaging	1.00
R5498:Plcb4	UTSW	2	135976172	missense	probably damaging	1.00
R5923:Plcb4	UTSW	2	135961814	nonsense	probably null
R6241:Plcb4	UTSW	2	135910174	missense	possibly damaging	0.80
R6492:Plcb4	UTSW	2	135973071	nonsense	probably null
R6514:Plcb4	UTSW	2	135954996	missense	probably benign	0.22
R6570:Plcb4	UTSW	2	135982986	missense	probably benign	0.13
R6721:Plcb4	UTSW	2	135910237	missense	probably benign	0.01
R6915:Plcb4	UTSW	2	135947115	missense	possibly damaging	0.84
R6991:Plcb4	UTSW	2	135910194	missense	probably damaging	1.00
R7040:Plcb4	UTSW	2	135932262	missense	probably benign
R7086:Plcb4	UTSW	2	136007847	missense	probably benign
R7114:Plcb4	UTSW	2	135982123	critical splice donor site	probably null
R7249:Plcb4	UTSW	2	136007821	critical splice acceptor site	probably null
R7264:Plcb4	UTSW	2	135965080	missense	probably benign
R7361:Plcb4	UTSW	2	135976148	missense	possibly damaging	0.82
R7426:Plcb4	UTSW	2	136000219	missense	probably benign	0.00
R7429:Plcb4	UTSW	2	135968322	missense	probably damaging	1.00
R7430:Plcb4	UTSW	2	135968322	missense	probably damaging	1.00
R8010:Plcb4	UTSW	2	135907560	missense	probably benign	0.00
R8141:Plcb4	UTSW	2	135939249	missense	probably damaging	1.00
R9072:Plcb4	UTSW	2	136007875	missense	possibly damaging	0.93
R9119:Plcb4	UTSW	2	135967952	missense	probably damaging	1.00
R9287:Plcb4	UTSW	2	135987897	missense	probably benign	0.00
R9448:Plcb4	UTSW	2	135910125	missense	possibly damaging	0.47
R9578:Plcb4	UTSW	2	135987524	missense	probably benign	0.00
Z1177:Plcb4	UTSW	2	135958738	critical splice donor site	probably null

Posted On

2015-04-16