Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Plcd1'

438828

Institutional Source

Beutler Lab

Gene Symbol

Plcd1

Ensembl Gene

ENSMUSG00000010660

Gene Name

phospholipase C, delta 1

Synonyms

PLC-delta 1

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119071527-119093502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119073832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 539 (S539P)

Ref Sequence

ENSEMBL: ENSMUSP00000149813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000141185] [ENSMUST00000213464] [ENSMUST00000214470]

AlphaFold

Q8R3B1

Predicted Effect

probably benign
Transcript: ENSMUST00000010804
AA Change: S513P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: S513P

Domain	Start	End	E-Value	Type
PH	22	132	9.41e-10	SMART
EFh	144	172	2.87e-2	SMART
EFh	180	208	9.34e1	SMART
Pfam:EF-hand_like	213	295	1.2e-23	PFAM
PLCXc	296	440	5.47e-94	SMART
low complexity region	461	472	N/A	INTRINSIC
PLCYc	492	609	1.22e-68	SMART
C2	630	735	1.78e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051386

SMART Domains

Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	14	114	4.59e-13	SMART
GEL	135	227	4.18e-16	SMART
GEL	252	348	8.35e-25	SMART
GEL	391	488	7.92e-17	SMART
GEL	508	594	4.38e-19	SMART
GEL	613	706	7.8e-16	SMART
VHP	824	859	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074734

SMART Domains

Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	14	114	4.59e-13	SMART
GEL	135	227	4.18e-16	SMART
GEL	252	348	8.35e-25	SMART
GEL	391	488	7.92e-17	SMART
GEL	508	594	4.38e-19	SMART
VHP	740	775	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126251

SMART Domains

Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
Blast:GEL	1	56	9e-21	BLAST
GEL	63	149	4.38e-19	SMART
GEL	168	261	7.8e-16	SMART
VHP	357	392	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141185

SMART Domains

Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	7	104	7.92e-17	SMART
GEL	124	210	4.38e-19	SMART
GEL	229	322	7.8e-16	SMART
VHP	440	475	2.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153630

Predicted Effect

probably benign
Transcript: ENSMUST00000213464

Predicted Effect

probably benign
Transcript: ENSMUST00000214470
AA Change: S539P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214491

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene show reduced body size and various abnormalities of the skin and hair including alopecia, epidermal hyperplasia, enlarged sebaceous glands, various kinds of cysts, and skin tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,409 (GRCm38)	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084 (GRCm38)	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767 (GRCm38)	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360 (GRCm38)	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476 (GRCm38)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247 (GRCm38)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210 (GRCm38)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412 (GRCm38)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634 (GRCm38)	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646 (GRCm38)	V74E	possibly damaging	Het
Ccdc78	C	A	17: 25,786,677 (GRCm38)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484 (GRCm38)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738 (GRCm38)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm38)	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514 (GRCm38)		probably null	Het
Cwf19l1	G	A	19: 44,120,877 (GRCm38)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203 (GRCm38)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913 (GRCm38)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242 (GRCm38)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267 (GRCm38)	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951 (GRCm38)	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148 (GRCm38)	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207 (GRCm38)	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075 (GRCm38)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122 (GRCm38)		probably benign	Het
Hepacam	A	G	9: 37,384,684 (GRCm38)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550 (GRCm38)	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308 (GRCm38)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220 (GRCm38)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593 (GRCm38)	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679 (GRCm38)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530 (GRCm38)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342 (GRCm38)	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714 (GRCm38)	Y223C		Het
Lrit3	G	T	3: 129,788,898 (GRCm38)	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263 (GRCm38)	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970 (GRCm38)	V271G	probably benign	Het
Nktr	C	T	9: 121,748,489 (GRCm38)		probably benign	Het
Olfr1342	T	A	4: 118,689,870 (GRCm38)	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576 (GRCm38)	R261H	probably damaging	Het
Olfr347	A	T	2: 36,734,621 (GRCm38)	Q100L	probably damaging	Het
Olfr617	T	A	7: 103,584,531 (GRCm38)	Y170N	probably benign	Het
Olfr979	A	T	9: 40,000,621 (GRCm38)	I202N	possibly damaging	Het
Olfr984	A	T	9: 40,101,244 (GRCm38)	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822 (GRCm38)	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873 (GRCm38)	V16A	possibly damaging	Het
Prss1	A	G	6: 41,463,265 (GRCm38)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555 (GRCm38)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859 (GRCm38)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473 (GRCm38)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619 (GRCm38)		probably benign	Het
Rsf1	T	C	7: 97,662,121 (GRCm38)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm38)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081 (GRCm38)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427 (GRCm38)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851 (GRCm38)		probably null	Het
Sis	A	G	3: 72,914,576 (GRCm38)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618 (GRCm38)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801 (GRCm38)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm38)	H345R	unknown	Het
Suox	A	T	10: 128,671,825 (GRCm38)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828 (GRCm38)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762 (GRCm38)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421 (GRCm38)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566 (GRCm38)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992 (GRCm38)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271 (GRCm38)	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596 (GRCm38)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704 (GRCm38)		probably benign	Het
Tshz2	A	T	2: 169,884,342 (GRCm38)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659 (GRCm38)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138 (GRCm38)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076 (GRCm38)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487 (GRCm38)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561 (GRCm38)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235 (GRCm38)	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762 (GRCm38)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858 (GRCm38)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321 (GRCm38)	K487R	possibly damaging	Het

Other mutations in Plcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Plcd1	APN	9	119,076,178 (GRCm38)	missense	probably damaging	1.00
IGL01634:Plcd1	APN	9	119,073,789 (GRCm38)	missense	probably damaging	0.99
IGL01992:Plcd1	APN	9	119,075,985 (GRCm38)	missense	probably benign
IGL02246:Plcd1	APN	9	119,072,609 (GRCm38)	missense	probably benign	0.16
IGL02266:Plcd1	APN	9	119,074,787 (GRCm38)	splice site	probably benign
IGL02270:Plcd1	APN	9	119,084,641 (GRCm38)	missense	probably damaging	1.00
IGL02281:Plcd1	APN	9	119,074,773 (GRCm38)	missense	probably benign	0.00
IGL02324:Plcd1	APN	9	119,072,642 (GRCm38)	missense	probably damaging	0.97
IGL02936:Plcd1	APN	9	119,074,199 (GRCm38)	missense	probably damaging	1.00
IGL03348:Plcd1	APN	9	119,072,490 (GRCm38)	missense	possibly damaging	0.91
R0366:Plcd1	UTSW	9	119,081,136 (GRCm38)	missense	probably damaging	0.99
R1765:Plcd1	UTSW	9	119,071,806 (GRCm38)	missense	probably damaging	1.00
R3704:Plcd1	UTSW	9	119,076,209 (GRCm38)	missense	possibly damaging	0.85
R5143:Plcd1	UTSW	9	119,074,451 (GRCm38)	nonsense	probably null
R5877:Plcd1	UTSW	9	119,076,172 (GRCm38)	missense	probably damaging	1.00
R6043:Plcd1	UTSW	9	119,072,599 (GRCm38)	missense	probably damaging	1.00
R6103:Plcd1	UTSW	9	119,072,041 (GRCm38)	missense	probably benign	0.16
R6338:Plcd1	UTSW	9	119,074,991 (GRCm38)	missense	probably damaging	1.00
R6339:Plcd1	UTSW	9	119,074,991 (GRCm38)	missense	probably damaging	1.00
R6496:Plcd1	UTSW	9	119,072,641 (GRCm38)	missense	possibly damaging	0.79
R6516:Plcd1	UTSW	9	119,076,203 (GRCm38)	missense	probably damaging	0.99
R6646:Plcd1	UTSW	9	119,075,032 (GRCm38)	missense	probably damaging	0.99
R6854:Plcd1	UTSW	9	119,074,321 (GRCm38)	splice site	probably null
R6955:Plcd1	UTSW	9	119,071,856 (GRCm38)	missense	probably benign	0.01
R7382:Plcd1	UTSW	9	119,074,691 (GRCm38)	missense	probably damaging	1.00
R7577:Plcd1	UTSW	9	119,072,254 (GRCm38)	missense	possibly damaging	0.94
R7922:Plcd1	UTSW	9	119,074,652 (GRCm38)	missense	possibly damaging	0.64
R8089:Plcd1	UTSW	9	119,075,992 (GRCm38)	missense	possibly damaging	0.95
R9027:Plcd1	UTSW	9	119,084,641 (GRCm38)	missense	probably damaging	1.00
R9217:Plcd1	UTSW	9	119,072,655 (GRCm38)	critical splice acceptor site	probably null
R9434:Plcd1	UTSW	9	119,076,163 (GRCm38)	missense	probably damaging	0.99
R9596:Plcd1	UTSW	9	119,088,115 (GRCm38)	missense	probably benign	0.10
R9667:Plcd1	UTSW	9	119,072,630 (GRCm38)	missense	probably damaging	1.00
R9739:Plcd1	UTSW	9	119,072,127 (GRCm38)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AATGCCAACTTGGGACCCTG -3'
(R):5'- TGTGGCTGCCATTCAGATC -3'

Sequencing Primer
(F):5'- TGCAGGGCCGTACGTAG -3'
(R):5'- GGCTGCCATTCAGATCCTCTG -3'

Posted On

2016-10-26