Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Plcd1'

194300

Institutional Source

Beutler Lab

Gene Symbol

Plcd1

Ensembl Gene

ENSMUSG00000010660

Gene Name

phospholipase C, delta 1

Synonyms

PLC-delta 1

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R1765 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

118900595-118922570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118900874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 756 (D756G)

Ref Sequence

ENSEMBL: ENSMUSP00000010804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000136561] [ENSMUST00000141185] [ENSMUST00000214470] [ENSMUST00000213464]

AlphaFold

Q8R3B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000010804
AA Change: D756G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: D756G

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: ENSMUST00000136561

SMART Domains

Protein: ENSMUSP00000123393
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	1	96	2.46e-13	SMART
Blast:GEL	116	140	2e-8	BLAST

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

probably damaging
Transcript: ENSMUST00000214470
AA Change: D782G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214491

Predicted Effect

probably benign
Transcript: ENSMUST00000213464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153630

Meta Mutation Damage Score

0.5727

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Plcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Plcd1	APN	9	118,905,246 (GRCm39)	missense	probably damaging	1.00
IGL01634:Plcd1	APN	9	118,902,857 (GRCm39)	missense	probably damaging	0.99
IGL01992:Plcd1	APN	9	118,905,053 (GRCm39)	missense	probably benign
IGL02246:Plcd1	APN	9	118,901,677 (GRCm39)	missense	probably benign	0.16
IGL02266:Plcd1	APN	9	118,903,855 (GRCm39)	splice site	probably benign
IGL02270:Plcd1	APN	9	118,913,709 (GRCm39)	missense	probably damaging	1.00
IGL02281:Plcd1	APN	9	118,903,841 (GRCm39)	missense	probably benign	0.00
IGL02324:Plcd1	APN	9	118,901,710 (GRCm39)	missense	probably damaging	0.97
IGL02936:Plcd1	APN	9	118,903,267 (GRCm39)	missense	probably damaging	1.00
IGL03348:Plcd1	APN	9	118,901,558 (GRCm39)	missense	possibly damaging	0.91
R0366:Plcd1	UTSW	9	118,910,204 (GRCm39)	missense	probably damaging	0.99
R3704:Plcd1	UTSW	9	118,905,277 (GRCm39)	missense	possibly damaging	0.85
R5143:Plcd1	UTSW	9	118,903,519 (GRCm39)	nonsense	probably null
R5587:Plcd1	UTSW	9	118,902,900 (GRCm39)	missense	probably benign
R5877:Plcd1	UTSW	9	118,905,240 (GRCm39)	missense	probably damaging	1.00
R6043:Plcd1	UTSW	9	118,901,667 (GRCm39)	missense	probably damaging	1.00
R6103:Plcd1	UTSW	9	118,901,109 (GRCm39)	missense	probably benign	0.16
R6338:Plcd1	UTSW	9	118,904,059 (GRCm39)	missense	probably damaging	1.00
R6339:Plcd1	UTSW	9	118,904,059 (GRCm39)	missense	probably damaging	1.00
R6496:Plcd1	UTSW	9	118,901,709 (GRCm39)	missense	possibly damaging	0.79
R6516:Plcd1	UTSW	9	118,905,271 (GRCm39)	missense	probably damaging	0.99
R6646:Plcd1	UTSW	9	118,904,100 (GRCm39)	missense	probably damaging	0.99
R6854:Plcd1	UTSW	9	118,903,389 (GRCm39)	splice site	probably null
R6955:Plcd1	UTSW	9	118,900,924 (GRCm39)	missense	probably benign	0.01
R7382:Plcd1	UTSW	9	118,903,759 (GRCm39)	missense	probably damaging	1.00
R7577:Plcd1	UTSW	9	118,901,322 (GRCm39)	missense	possibly damaging	0.94
R7922:Plcd1	UTSW	9	118,903,720 (GRCm39)	missense	possibly damaging	0.64
R8089:Plcd1	UTSW	9	118,905,060 (GRCm39)	missense	possibly damaging	0.95
R9027:Plcd1	UTSW	9	118,913,709 (GRCm39)	missense	probably damaging	1.00
R9217:Plcd1	UTSW	9	118,901,723 (GRCm39)	critical splice acceptor site	probably null
R9434:Plcd1	UTSW	9	118,905,231 (GRCm39)	missense	probably damaging	0.99
R9596:Plcd1	UTSW	9	118,917,183 (GRCm39)	missense	probably benign	0.10
R9667:Plcd1	UTSW	9	118,901,698 (GRCm39)	missense	probably damaging	1.00
R9739:Plcd1	UTSW	9	118,901,195 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CTTGCTTCCGGTCAGAAGAGGTATG -3'
(R):5'- CCTTTCTAGGTTTCAACCCACGGTG -3'

Sequencing Primer
(F):5'- CATGTAGATCTTGAGGGACTCC -3'
(R):5'- CATGGTAGAGGATTATGACTCCTCC -3'

Posted On

2014-05-23