Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Plcd3'

517123

Institutional Source

Beutler Lab

Gene Symbol

Plcd3

Ensembl Gene

ENSMUSG00000020937

Gene Name

phospholipase C, delta 3

Synonyms

2610205J15Rik

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102961130-102992484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102968593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 366 (Y366C)

Ref Sequence

ENSEMBL: ENSMUSP00000099366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103077]

AlphaFold

Q8K2J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103077
AA Change: Y366C

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

SMART Domains

Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: Y366C

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	23	38	N/A	INTRINSIC
PH	61	170	4.07e-5	SMART
Pfam:EF-hand_10	197	246	1.8e-27	PFAM
Pfam:EF-hand_like	251	332	2.6e-24	PFAM
PLCXc	333	478	7.75e-85	SMART
low complexity region	495	512	N/A	INTRINSIC
PLCYc	524	640	3.96e-50	SMART
C2	657	763	1.05e-14	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000128650
AA Change: Y51C

SMART Domains

Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: Y51C

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
PLCXc	19	164	7.75e-85	SMART
coiled coil region	172	206	N/A	INTRINSIC
PLCYc	210	326	3.96e-50	SMART
C2	343	449	1.05e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	Het

Other mutations in Plcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Plcd3	APN	11	102,968,696 (GRCm39)	missense	probably benign	0.16
IGL01906:Plcd3	APN	11	102,967,682 (GRCm39)	missense	probably damaging	1.00
IGL02325:Plcd3	APN	11	102,971,447 (GRCm39)	nonsense	probably null
IGL02634:Plcd3	APN	11	102,968,653 (GRCm39)	missense	probably damaging	1.00
IGL02852:Plcd3	APN	11	102,964,631 (GRCm39)	missense	probably damaging	1.00
IGL03025:Plcd3	APN	11	102,965,724 (GRCm39)	missense	probably benign	0.24
IGL02837:Plcd3	UTSW	11	102,961,929 (GRCm39)	missense	possibly damaging	0.92
IGL02988:Plcd3	UTSW	11	102,967,568 (GRCm39)	missense	probably benign
R0055:Plcd3	UTSW	11	102,968,411 (GRCm39)	missense	probably damaging	1.00
R0055:Plcd3	UTSW	11	102,968,411 (GRCm39)	missense	probably damaging	1.00
R0062:Plcd3	UTSW	11	102,965,720 (GRCm39)	missense	probably benign
R0452:Plcd3	UTSW	11	102,962,085 (GRCm39)	unclassified	probably benign
R0529:Plcd3	UTSW	11	102,971,013 (GRCm39)	missense	probably benign	0.00
R0556:Plcd3	UTSW	11	102,968,632 (GRCm39)	missense	probably damaging	1.00
R1463:Plcd3	UTSW	11	102,969,199 (GRCm39)	missense	probably damaging	1.00
R1752:Plcd3	UTSW	11	102,971,085 (GRCm39)	missense	probably benign	0.01
R2157:Plcd3	UTSW	11	102,961,974 (GRCm39)	missense	probably benign
R2519:Plcd3	UTSW	11	102,971,226 (GRCm39)	missense	possibly damaging	0.80
R3809:Plcd3	UTSW	11	102,992,209 (GRCm39)	missense	probably null	0.03
R4167:Plcd3	UTSW	11	102,969,290 (GRCm39)	missense	probably damaging	0.98
R5100:Plcd3	UTSW	11	102,969,175 (GRCm39)	missense	probably benign
R5387:Plcd3	UTSW	11	102,969,281 (GRCm39)	missense	probably damaging	1.00
R5589:Plcd3	UTSW	11	102,968,629 (GRCm39)	missense	probably benign	0.01
R5700:Plcd3	UTSW	11	102,964,589 (GRCm39)	missense	probably benign	0.00
R5754:Plcd3	UTSW	11	102,964,592 (GRCm39)	missense	possibly damaging	0.67
R5936:Plcd3	UTSW	11	102,969,173 (GRCm39)	missense	probably damaging	1.00
R6059:Plcd3	UTSW	11	102,971,227 (GRCm39)	missense	possibly damaging	0.80
R6102:Plcd3	UTSW	11	102,971,470 (GRCm39)	missense	probably damaging	0.99
R6480:Plcd3	UTSW	11	102,965,757 (GRCm39)	missense	possibly damaging	0.79
R6566:Plcd3	UTSW	11	102,964,626 (GRCm39)	missense	probably damaging	1.00
R7098:Plcd3	UTSW	11	102,968,689 (GRCm39)	missense	probably damaging	1.00
R7165:Plcd3	UTSW	11	102,970,439 (GRCm39)	missense	probably damaging	1.00
R7392:Plcd3	UTSW	11	102,992,383 (GRCm39)	unclassified	probably benign
R7484:Plcd3	UTSW	11	102,962,545 (GRCm39)	missense	probably damaging	1.00
R7606:Plcd3	UTSW	11	102,967,683 (GRCm39)	missense	probably damaging	1.00
R7777:Plcd3	UTSW	11	102,965,481 (GRCm39)	missense	probably benign	0.33
R7857:Plcd3	UTSW	11	102,968,760 (GRCm39)	missense	probably benign	0.12
R8349:Plcd3	UTSW	11	102,965,496 (GRCm39)	missense	probably damaging	1.00
R8449:Plcd3	UTSW	11	102,965,496 (GRCm39)	missense	probably damaging	1.00
R8786:Plcd3	UTSW	11	102,962,569 (GRCm39)	missense	probably damaging	1.00
R8848:Plcd3	UTSW	11	102,971,446 (GRCm39)	missense	probably benign	0.00
R8894:Plcd3	UTSW	11	102,962,592 (GRCm39)	missense	probably damaging	1.00
R8983:Plcd3	UTSW	11	102,962,092 (GRCm39)	missense	possibly damaging	0.73
R9252:Plcd3	UTSW	11	102,968,380 (GRCm39)	nonsense	probably null
R9253:Plcd3	UTSW	11	102,970,460 (GRCm39)	missense	probably benign	0.05
X0023:Plcd3	UTSW	11	102,971,034 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGGTAGATGACAGGTTCCCC -3'
(R):5'- GAACTGATGACGCTGGATGG -3'

Sequencing Primer
(F):5'- TAGATGACAGGTTCCCCTCCCG -3'
(R):5'- ACGCTGGATGGCTTCATG -3'

Posted On

2018-05-21