Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Plcd4'

40198

Institutional Source

Beutler Lab

Gene Symbol

Plcd4

Ensembl Gene

ENSMUSG00000026173

Gene Name

phospholipase C, delta 4

Synonyms

4921507K24Rik

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0415 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74581175-74605137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74591256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 217 (S217Y)

Ref Sequence

ENSEMBL: ENSMUSP00000121732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027362] [ENSMUST00000067916] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000141412] [ENSMUST00000152707]

AlphaFold

Q8K3R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027362
AA Change: S217Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC
PLCYc	538	654	1.26e-75	SMART
C2	673	779	5.68e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067916
AA Change: S217Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC
PLCYc	506	622	1.26e-75	SMART
C2	641	747	5.68e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113745

SMART Domains

Protein: ENSMUSP00000109374
Gene: ENSMUSG00000026173

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113747
AA Change: S217Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC
PLCYc	506	622	1.26e-75	SMART
C2	641	747	5.68e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113749
AA Change: S217Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC
PLCYc	538	654	1.26e-75	SMART
C2	673	779	5.68e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113750
AA Change: S217Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC
PLCYc	506	622	1.26e-75	SMART
C2	641	747	7.16e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000141412
AA Change: S217Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152707
AA Change: S217Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: S217Y

Domain	Start	End	E-Value	Type
PH	17	126	2.6e-12	SMART
EFh	138	166	9.97e-1	SMART
EFh	174	202	1.83e1	SMART
EFh	207	234	4.45e1	SMART
PLCXc	290	435	2.03e-79	SMART
low complexity region	441	459	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

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 delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile or sterile. Sperm from mutant males fail to initiate the acrosome reaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 24,036,048 (GRCm39)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,306,811 (GRCm39)		probably null	Het
Adgra3	C	A	5: 50,119,099 (GRCm39)		probably benign	Het
Adgre4	G	A	17: 56,159,288 (GRCm39)	V658I	probably benign	Het
Ahnak	A	G	19: 8,990,235 (GRCm39)		probably benign	Het
Anapc2	A	G	2: 25,168,337 (GRCm39)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,488,875 (GRCm39)		probably benign	Het
Atf7ip	C	T	6: 136,537,010 (GRCm39)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,253,031 (GRCm39)		probably benign	Het
Camk1	A	T	6: 113,318,852 (GRCm39)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,122,944 (GRCm39)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,619,897 (GRCm39)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,426,628 (GRCm39)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 105,952,279 (GRCm39)	V540I	probably damaging	Het
Cst9	T	A	2: 148,680,362 (GRCm39)		probably benign	Het
Cul5	C	T	9: 53,578,370 (GRCm39)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,349,574 (GRCm39)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,317,539 (GRCm39)		probably benign	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dip2c	C	T	13: 9,618,325 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,324,892 (GRCm39)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,516,359 (GRCm39)	L3*	probably null	Het
Dop1a	T	A	9: 86,388,555 (GRCm39)	L480M	probably damaging	Het
Eml6	A	G	11: 29,699,392 (GRCm39)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,126,500 (GRCm39)	N115S	probably damaging	Het
Fryl	T	C	5: 73,255,757 (GRCm39)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,724,051 (GRCm39)		probably benign	Het
Gm7137	A	G	10: 77,624,007 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,891,322 (GRCm39)	Q132L	probably benign	Het
Habp2	T	C	19: 56,306,149 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,562,284 (GRCm39)		probably benign	Het
Htr6	A	G	4: 138,789,392 (GRCm39)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,251,530 (GRCm39)	D199G	unknown	Het
Itih2	A	G	2: 10,110,426 (GRCm39)		probably benign	Het
Kcnab2	A	G	4: 152,479,593 (GRCm39)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,352,749 (GRCm39)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,313,043 (GRCm39)		probably null	Het
Kndc1	C	T	7: 139,510,037 (GRCm39)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,464,446 (GRCm39)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,959,731 (GRCm39)	L47P	probably damaging	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Lyst	T	C	13: 13,886,195 (GRCm39)		probably benign	Het
Macrod2	G	A	2: 142,052,065 (GRCm39)		probably null	Het
Mical2	C	T	7: 111,980,235 (GRCm39)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,759,576 (GRCm39)		probably benign	Het
Msh3	A	G	13: 92,483,294 (GRCm39)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,191,569 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or51e2	C	T	7: 102,391,294 (GRCm39)	M305I	probably benign	Het
Or5m10	A	T	2: 85,717,782 (GRCm39)	I213F	possibly damaging	Het
Or5m9	A	T	2: 85,877,399 (GRCm39)	H191L	probably benign	Het
Or8c15	A	T	9: 38,121,269 (GRCm39)	M305L	probably benign	Het
Or8g2	A	G	9: 39,821,279 (GRCm39)	Y60C	probably damaging	Het
Pard3	G	A	8: 128,337,047 (GRCm39)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm39)	A120V	probably damaging	Het
Pcsk6	C	T	7: 65,683,622 (GRCm39)	R746C	probably damaging	Het
Pif1	G	A	9: 65,495,333 (GRCm39)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,179,419 (GRCm39)	Y609C	probably damaging	Het
Plxna1	G	A	6: 89,334,318 (GRCm39)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,602 (GRCm39)	Y45C	probably damaging	Het
Prex1	A	G	2: 166,428,619 (GRCm39)		probably benign	Het
Pth2r	A	G	1: 65,427,598 (GRCm39)	M424V	probably benign	Het
Pygm	A	G	19: 6,441,396 (GRCm39)	R464G	probably benign	Het
Rad51c	A	G	11: 87,288,481 (GRCm39)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,415,965 (GRCm39)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,540,525 (GRCm39)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,305,295 (GRCm39)	I509F	probably damaging	Het
Ro60	G	T	1: 143,635,813 (GRCm39)	N444K	probably benign	Het
Ryr2	T	C	13: 11,884,042 (GRCm39)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,844,224 (GRCm39)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,283,453 (GRCm39)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,581,190 (GRCm39)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,347,780 (GRCm39)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,119,122 (GRCm39)	T583P	probably benign	Het
Slc66a3	C	A	12: 17,047,711 (GRCm39)		probably benign	Het
Smg1	C	A	7: 117,781,691 (GRCm39)	A1199S	probably benign	Het
Spint1	A	G	2: 119,076,096 (GRCm39)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,099,576 (GRCm39)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,379,516 (GRCm39)		probably benign	Het
Tas2r123	A	T	6: 132,824,801 (GRCm39)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,355,796 (GRCm39)	C139F	probably benign	Het
Thbs2	A	C	17: 14,900,235 (GRCm39)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,640,769 (GRCm39)	E980G	probably damaging	Het
Tmem247	G	T	17: 87,229,750 (GRCm39)	C197F	probably damaging	Het
Tmem43	C	A	6: 91,459,300 (GRCm39)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,248,430 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,973,224 (GRCm39)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,478,006 (GRCm39)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,877,317 (GRCm39)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,606,253 (GRCm39)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,610,618 (GRCm39)	C25G	probably damaging	Het
Xndc1	T	C	7: 101,729,823 (GRCm39)		probably benign	Het
Zfp282	A	G	6: 47,874,815 (GRCm39)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,881,987 (GRCm39)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,250,246 (GRCm39)	T56S	unknown	Het
Zfp345	A	G	2: 150,316,479 (GRCm39)		probably benign	Het

Other mutations in Plcd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Plcd4	APN	1	74,591,274 (GRCm39)	missense	probably damaging	1.00
IGL01806:Plcd4	APN	1	74,591,192 (GRCm39)	missense	probably benign	0.42
IGL02537:Plcd4	APN	1	74,595,209 (GRCm39)	missense	possibly damaging	0.55
IGL02574:Plcd4	APN	1	74,603,539 (GRCm39)	missense	probably damaging	1.00
IGL02812:Plcd4	APN	1	74,596,967 (GRCm39)	missense	probably damaging	1.00
IGL03350:Plcd4	APN	1	74,588,460 (GRCm39)	missense	probably damaging	1.00
R1699:Plcd4	UTSW	1	74,587,394 (GRCm39)	missense	probably benign	0.01
R1852:Plcd4	UTSW	1	74,588,520 (GRCm39)	missense	possibly damaging	0.92
R2120:Plcd4	UTSW	1	74,603,584 (GRCm39)	missense	probably benign	0.00
R2125:Plcd4	UTSW	1	74,604,311 (GRCm39)	missense	probably damaging	1.00
R3023:Plcd4	UTSW	1	74,587,351 (GRCm39)	missense	probably damaging	1.00
R3157:Plcd4	UTSW	1	74,590,313 (GRCm39)	splice site	probably null
R4535:Plcd4	UTSW	1	74,602,627 (GRCm39)	missense	probably damaging	1.00
R4581:Plcd4	UTSW	1	74,587,383 (GRCm39)	missense	probably damaging	1.00
R4863:Plcd4	UTSW	1	74,604,961 (GRCm39)	splice site	probably null
R4911:Plcd4	UTSW	1	74,603,572 (GRCm39)	missense	possibly damaging	0.78
R4987:Plcd4	UTSW	1	74,587,118 (GRCm39)	unclassified	probably benign
R5102:Plcd4	UTSW	1	74,604,313 (GRCm39)	missense	probably damaging	1.00
R5752:Plcd4	UTSW	1	74,587,131 (GRCm39)	splice site	probably null
R5887:Plcd4	UTSW	1	74,590,249 (GRCm39)	missense	probably damaging	1.00
R6318:Plcd4	UTSW	1	74,602,753 (GRCm39)	missense	possibly damaging	0.61
R6648:Plcd4	UTSW	1	74,591,172 (GRCm39)	missense	probably benign	0.00
R6796:Plcd4	UTSW	1	74,601,229 (GRCm39)	missense	probably benign	0.03
R6920:Plcd4	UTSW	1	74,604,994 (GRCm39)	unclassified	probably benign
R7047:Plcd4	UTSW	1	74,591,148 (GRCm39)	missense	possibly damaging	0.87
R7121:Plcd4	UTSW	1	74,604,524 (GRCm39)	missense	probably benign
R7134:Plcd4	UTSW	1	74,593,662 (GRCm39)	missense	probably benign	0.05
R7270:Plcd4	UTSW	1	74,593,838 (GRCm39)	missense	possibly damaging	0.89
R7344:Plcd4	UTSW	1	74,593,811 (GRCm39)	missense	probably damaging	1.00
R7363:Plcd4	UTSW	1	74,590,231 (GRCm39)	missense	probably null	0.99
R7749:Plcd4	UTSW	1	74,604,292 (GRCm39)	missense	possibly damaging	0.60
R7980:Plcd4	UTSW	1	74,604,464 (GRCm39)	missense	probably benign	0.00
R8240:Plcd4	UTSW	1	74,593,660 (GRCm39)	missense	probably benign	0.38
R8762:Plcd4	UTSW	1	74,591,213 (GRCm39)	missense	possibly damaging	0.71
R9000:Plcd4	UTSW	1	74,601,024 (GRCm39)	nonsense	probably null
R9114:Plcd4	UTSW	1	74,591,307 (GRCm39)	missense	possibly damaging	0.60
R9162:Plcd4	UTSW	1	74,601,362 (GRCm39)	missense	probably benign	0.00
R9252:Plcd4	UTSW	1	74,588,359 (GRCm39)	missense	probably damaging	0.97
R9579:Plcd4	UTSW	1	74,596,948 (GRCm39)	missense	probably benign	0.00
Z1176:Plcd4	UTSW	1	74,596,951 (GRCm39)	missense	probably damaging	1.00
Z1176:Plcd4	UTSW	1	74,587,285 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACCCTTACAGGACCTGGGAAGATGAC -3'
(R):5'- CCTACAGTGGGAGGAAACTCTGTGTC -3'

Sequencing Primer
(F):5'- agacagagagacagagacagag -3'
(R):5'- AGGAAACTCTGTGTCTGGGTC -3'

Posted On

2013-05-23