Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Plcb4'

543825

Institutional Source

Beutler Lab

Gene Symbol

Plcb4

Ensembl Gene

ENSMUSG00000039943

Gene Name

phospholipase C, beta 4

Synonyms

A930039J07Rik, C230058B11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135659011-136014593 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135910194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 107 (V107M)

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: V107M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: V107M

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: V107M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: V107M

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 damaging
Transcript: ENSMUST00000134310
AA Change: V107M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: V107M

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: V107M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: V107M

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,580,446	V278D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,206	E2843G	unknown	Het
9930021J03Rik	A	G	19: 29,719,108	L995S	possibly damaging	Het
Akap12	G	T	10: 4,357,122	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,508,675	D186V	probably benign	Het
Birc6	A	G	17: 74,562,095	E346G	probably damaging	Het
Ccr7	A	C	11: 99,145,304	V264G	probably damaging	Het
Col7a1	T	C	9: 108,983,919		probably null	Het
Coq8a	T	C	1: 180,179,068	T132A	probably benign	Het
Cyp2b10	G	A	7: 25,917,355	S407N	probably benign	Het
Ddi2	A	G	4: 141,685,250	V117A	probably benign	Het
Ddx42	G	A	11: 106,239,144	V421I	probably damaging	Het
Dip2c	T	A	13: 9,551,860	L285*	probably null	Het
Dip2c	C	T	13: 9,634,832	S1232F	probably damaging	Het
Dner	T	A	1: 84,476,402	R402*	probably null	Het
Dpysl3	A	T	18: 43,353,891	I317N	probably damaging	Het
Dusp23	T	A	1: 172,631,657	Y146F	probably benign	Het
Eef1a2	C	A	2: 181,148,628	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,407,136	C284S	probably damaging	Het
Gm16427	T	A	5: 93,484,374	N107I	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hao2	T	A	3: 98,876,752	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,510,169	V409A	probably damaging	Het
Kif9	T	C	9: 110,494,622	Y236H	probably damaging	Het
Kri1	T	C	9: 21,287,754		probably benign	Het
Lig4	A	T	8: 9,971,098	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,187,458	N982S	probably damaging	Het
Mapk8	T	C	14: 33,410,884	I32V	possibly damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mstn	T	C	1: 53,061,941	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Notch4	G	T	17: 34,584,800	E1515*	probably null	Het
Npw	A	C	17: 24,658,055	V124G	probably benign	Het
Nxph3	A	G	11: 95,511,418	S57P	probably damaging	Het
Olfr1000	T	C	2: 85,608,248	I221V	possibly damaging	Het
Olfr1145	G	A	2: 87,810,443	D208N	possibly damaging	Het
Olfr1443	G	T	19: 12,680,748	L213F	probably benign	Het
Olfr493	T	A	7: 108,346,088	N298Y	possibly damaging	Het
Olfr677	T	C	7: 105,056,564	I106T	probably damaging	Het
Opn4	A	T	14: 34,593,907	L390M	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g2e	G	A	4: 138,880,675	C62Y	probably damaging	Het
Prorsd1	A	C	11: 29,514,486		probably benign	Het
Prox2	A	G	12: 85,087,391	L587P	probably benign	Het
Prr22	A	G	17: 56,771,345	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,687	R1592Q	probably benign	Het
Rarg	C	G	15: 102,241,915	R74P	probably damaging	Het
Rcan1	A	G	16: 92,397,363	V54A	probably benign	Het
Rmdn2	A	G	17: 79,621,310		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,853,833	T385A	probably benign	Het
Slc44a3	T	C	3: 121,532,165	Y12C	probably benign	Het
Smg1	C	A	7: 118,167,868		probably benign	Het
Spock3	A	G	8: 63,355,381	*437W	probably null	Het
Sugct	T	A	13: 17,554,380	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tnks	C	A	8: 34,834,493	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,208,040	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,322,884	S251*	probably null	Het
Vmn2r15	T	A	5: 109,293,314	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 85,155,745	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,378,110	N132S	probably benign	Het
Wdr73	T	G	7: 80,891,856	T313P	probably benign	Het
Zfp65	C	T	13: 67,708,521	R213Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGCAGCAGGGACCATTTCC -3'
(R):5'- GCAGAGCAGTGAACTTTTAAACG -3'

Sequencing Primer
(F):5'- TTTTGCATGAAGTGTGGTTTCTTTTC -3'
(R):5'- CGATTAAAATGCGTGTACAATTCTC -3'

Posted On

2019-05-13