Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:Plcb4'

344245

Institutional Source

Beutler Lab

Gene Symbol

Plcb4

Ensembl Gene

ENSMUSG00000039943

Gene Name

phospholipase C, beta 4

Synonyms

A930039J07Rik, C230058B11Rik

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135659011-136014593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136002599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 146 (M146L)

Ref Sequence

ENSEMBL: ENSMUSP00000117578 (fasta)

Gene Model

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

AlphaFold

Q91UZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000035646
AA Change: M1085L

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: M1085L

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: M1085L

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: M1085L

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

noncoding transcript
Transcript: ENSMUST00000147122

Predicted Effect

probably damaging
Transcript: ENSMUST00000147744
AA Change: M146L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117578
Gene: ENSMUSG00000039943
AA Change: M146L

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

0.1145

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	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
IGL02625:Plcb4	APN	2	135961794	missense	probably benign	0.19
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
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
Z1177:Plcb4	UTSW	2	135958738	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCACCCTTTAGGAGTGTG -3'
(R):5'- GTACTAACAGGACTCTTCGAACACC -3'

Sequencing Primer
(F):5'- GAGCCATACATTCGCATTGC -3'
(R):5'- CGAACACCACAGTATTAATATCTCAG -3'

Posted On

2015-09-25