Mutagenetix > Incidental Mutation

Incidental Mutation 'R9027:Plcd1'

686807

Institutional Source

Beutler Lab

Gene Symbol

Plcd1

Ensembl Gene

ENSMUSG00000010660

Gene Name

phospholipase C, delta 1

Synonyms

PLC-delta 1

MMRRC Submission

068856-MU

Accession Numbers

Essential gene?

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

Stock #

R9027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118900595-118922570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118913709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 50 (T50A)

Ref Sequence

ENSEMBL: ENSMUSP00000149676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000213464] [ENSMUST00000214470]

AlphaFold

Q8R3B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010804
AA Change: T50A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: T50A

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 damaging
Transcript: ENSMUST00000213464
AA Change: T50A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214470
AA Change: T76A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	C	A	5: 121,640,788 (GRCm39)	E86*	probably null	Het
Ahnak	T	G	19: 8,984,617 (GRCm39)	I1967S	possibly damaging	Het
Alox12e	A	G	11: 70,212,600 (GRCm39)	V83A	possibly damaging	Het
Arhgap20	A	T	9: 51,754,977 (GRCm39)	R439S	probably damaging	Het
Arl1	A	G	10: 88,569,458 (GRCm39)	I20V	probably damaging	Het
Atad2	T	C	15: 57,995,628 (GRCm39)	D93G	probably benign	Het
Btbd7	T	G	12: 102,804,838 (GRCm39)	K67N	probably damaging	Het
C130050O18Rik	A	G	5: 139,400,301 (GRCm39)	N118S	probably benign	Het
Ccz1	A	C	5: 143,946,120 (GRCm39)		probably benign	Het
Cdk19	A	G	10: 40,355,728 (GRCm39)	S479G	unknown	Het
Chrd	A	G	16: 20,555,737 (GRCm39)	T503A	probably damaging	Het
Clca4b	G	A	3: 144,617,827 (GRCm39)	R759*	probably null	Het
Cpa5	G	T	6: 30,612,604 (GRCm39)	M1I	probably null	Het
Cr2	A	T	1: 194,834,029 (GRCm39)	I920N	probably benign	Het
Crmp1	C	A	5: 37,437,947 (GRCm39)	Y430*	probably null	Het
Dars1	A	T	1: 128,296,163 (GRCm39)	V390D	possibly damaging	Het
Dmtn	A	G	14: 70,853,555 (GRCm39)	S85P	probably damaging	Het
Ermardl1	A	G	17: 15,242,364 (GRCm39)	E416G	unknown	Het
Fancm	C	A	12: 65,122,605 (GRCm39)	D42E	probably damaging	Het
Gabrg3	T	A	7: 56,423,122 (GRCm39)	Y192F	possibly damaging	Het
Gpr3	A	T	4: 132,938,209 (GRCm39)	Y154*	probably null	Het
Huwe1	G	A	X: 150,716,084 (GRCm39)	R4331Q	unknown	Het
Ints5	C	A	19: 8,873,322 (GRCm39)	P427Q	possibly damaging	Het
Jhy	A	T	9: 40,828,823 (GRCm39)	V361D	probably benign	Het
Klhl33	G	A	14: 51,130,322 (GRCm39)	Q131*	probably null	Het
Lama2	A	T	10: 27,080,881 (GRCm39)	C981S	probably damaging	Het
Mks1	C	A	11: 87,748,041 (GRCm39)	L225I	probably damaging	Het
Ms4a20	A	T	19: 11,083,055 (GRCm39)	Y122N	probably damaging	Het
Nfasc	T	A	1: 132,539,343 (GRCm39)	S402C	probably damaging	Het
Or2a57	T	C	6: 43,213,358 (GRCm39)	I272T	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,517 (GRCm39)	Y218F	unknown	Het
Or51g2	T	C	7: 102,622,560 (GRCm39)	D213G	probably damaging	Het
Pbx4	T	A	8: 70,316,999 (GRCm39)	D85E	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Psen2	C	A	1: 180,056,972 (GRCm39)	E351*	probably null	Het
Rragd	G	A	4: 32,996,083 (GRCm39)	V143I	probably damaging	Het
Rsph14	A	T	10: 74,795,423 (GRCm39)	M254K	probably damaging	Het
Selenoi	C	T	5: 30,437,607 (GRCm39)		probably benign	Het
Six6	T	C	12: 72,986,935 (GRCm39)	S36P		Het
Slc12a8	T	C	16: 33,445,215 (GRCm39)	S370P	probably benign	Het
Slc25a46	A	G	18: 31,716,432 (GRCm39)	Y357H	probably benign	Het
Socs2	A	T	10: 95,248,948 (GRCm39)	V55D	probably damaging	Het
Socs6	T	C	18: 88,888,852 (GRCm39)	E21G	probably benign	Het
Spata31e4	C	T	13: 50,857,007 (GRCm39)	Q882*	probably null	Het
Speg	A	T	1: 75,365,076 (GRCm39)	T486S	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,165,473 (GRCm39)	K82E	probably damaging	Het
Sugt1	A	G	14: 79,825,155 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,384,440 (GRCm39)	Y1074C	probably damaging	Het
Sytl2	A	G	7: 90,028,748 (GRCm39)	T476A	probably benign	Het
Tbc1d1	T	C	5: 64,414,349 (GRCm39)	S237P	probably benign	Het
Tbc1d5	C	A	17: 51,063,692 (GRCm39)	M629I	probably damaging	Het
Tlr11	G	A	14: 50,598,749 (GRCm39)	G245D	probably damaging	Het
Tspan4	T	C	7: 141,069,577 (GRCm39)	V59A	probably benign	Het
Tulp4	T	A	17: 6,283,472 (GRCm39)	V1167E	possibly damaging	Het
Usp42	G	A	5: 143,708,906 (GRCm39)	T204M	probably damaging	Het
Vapb	A	G	2: 173,617,948 (GRCm39)	K147R	possibly damaging	Het
Vmn1r228	T	C	17: 20,997,422 (GRCm39)	D32G	probably benign	Het
Vmn2r33	A	G	7: 7,554,168 (GRCm39)	F795S	probably damaging	Het
Vmn2r34	A	T	7: 7,675,527 (GRCm39)	N620K	probably damaging	Het
Vwf	G	T	6: 125,643,626 (GRCm39)	C2389F		Het
Wdr81	T	C	11: 75,332,908 (GRCm39)	E652G		Het
Wdr81	A	T	11: 75,343,207 (GRCm39)	S687T	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	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
R1765:Plcd1	UTSW	9	118,900,874 (GRCm39)	missense	probably damaging	1.00
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
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'- GACCAGCCTAACTTTGGCTTCC -3'
(R):5'- ATGGGCCTGATGCTAAGAGG -3'

Sequencing Primer
(F):5'- GGCTTCCCTACAAGTGATTCAAC -3'
(R):5'- CCTGATGCTAAGAGGGACAC -3'

Posted On

2021-11-19