Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Plcd1'

36422

Institutional Source

Beutler Lab

Gene Symbol

Plcd1

Ensembl Gene

ENSMUSG00000010660

Gene Name

phospholipase C, delta 1

Synonyms

PLC-delta 1

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118900595-118922570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118910204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 72 (I72F)

Ref Sequence

ENSEMBL: ENSMUSP00000010804 (fasta)

Gene Model

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

AlphaFold

Q8R3B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000010804
AA Change: I72F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: I72F

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: I72F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214470
AA Change: I98F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6804

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	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
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
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'- TGGCATTTTGTTACCGAAGCACAAC -3'
(R):5'- TGCATGACCTCTTCCTATCGCAGG -3'

Sequencing Primer
(F):5'- CCAGGAGGATACTGCTGC -3'
(R):5'- TATCGCAGGTGCCAGATCAC -3'

Posted On

2013-05-09