Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Plcd3'

573528

Institutional Source

Beutler Lab

Gene Symbol

Plcd3

Ensembl Gene

ENSMUSG00000020937

Gene Name

phospholipase C, delta 3

Synonyms

2610205J15Rik

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R7392 (G1)

Quality Score

191.009

Status

Not validated

Chromosome

Chromosomal Location

102961130-102992484 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 102992383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024492] [ENSMUST00000092559] [ENSMUST00000103077] [ENSMUST00000107040] [ENSMUST00000129870] [ENSMUST00000134884] [ENSMUST00000140372] [ENSMUST00000152971]

AlphaFold

Q8K2J0

Predicted Effect

probably benign
Transcript: ENSMUST00000024492

SMART Domains

Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
Pfam:ACBP	11	93	5.6e-27	PFAM
low complexity region	149	169	N/A	INTRINSIC
low complexity region	239	254	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092559

SMART Domains

Protein: ENSMUSP00000090220
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
Pfam:ACBP	10	81	1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103077

SMART Domains

Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937

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

probably benign
Transcript: ENSMUST00000107040

SMART Domains

Protein: ENSMUSP00000102655
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	66	1e-22	PDB
low complexity region	109	129	N/A	INTRINSIC
low complexity region	199	214	N/A	INTRINSIC
transmembrane domain	256	278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129870

SMART Domains

Protein: ENSMUSP00000116755
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
Pfam:ACBP	10	81	1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134884

SMART Domains

Protein: ENSMUSP00000120031
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	55	5e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000140372

SMART Domains

Protein: ENSMUSP00000115521
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	66	1e-23	PDB
low complexity region	109	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152971

SMART Domains

Protein: ENSMUSP00000118886
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	66	1e-24	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Agbl5	G	A	5: 31,048,115 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,624,482 (GRCm39)		probably null	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,111,439 (GRCm39)	T437M	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,495,383 (GRCm39)	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Niban1	A	G	1: 151,571,975 (GRCm39)	T307A	probably damaging	Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Trim34b	A	G	7: 103,985,604 (GRCm39)	N413S	probably benign	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	possibly damaging	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
R6481:Plcd3	UTSW	11	102,968,593 (GRCm39)	missense	probably damaging	1.00
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
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'- ATCTTCTTCAGTGCCCGTAG -3'
(R):5'- ACTCACTAGTAGGGGCGAAC -3'

Sequencing Primer
(F):5'- AGCCCAGGCCTTTTGGTG -3'
(R):5'- CGAACGCGTAGACACCAGG -3'

Posted On

2019-09-13