Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Plcd4'

343639

Institutional Source

Beutler Lab

Gene Symbol

Plcd4

Ensembl Gene

ENSMUSG00000026173

Gene Name

phospholipase C, delta 4

Synonyms

4921507K24Rik

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74542888-74567794 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74548224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 48 (W48R)

Ref Sequence

ENSEMBL: ENSMUSP00000121732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027362] [ENSMUST00000067916] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000141412] [ENSMUST00000152707] [ENSMUST00000189257]

AlphaFold

Q8K3R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000027362
AA Change: W48R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: W48R

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: W48R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: W48R

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: W48R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: W48R

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: W48R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: W48R

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: W48R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: W48R

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: W48R

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

SMART Domains

Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: W48R

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: W48R

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

SMART Domains

Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: W48R

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

noncoding transcript
Transcript: ENSMUST00000185411

Predicted Effect

probably benign
Transcript: ENSMUST00000189257

SMART Domains

Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364

Domain	Start	End	E-Value	Type
PDB:3U12\|B	4	125	2e-71	PDB
low complexity region	182	200	N/A	INTRINSIC
Pfam:UCH_1	341	608	4.3e-19	PFAM
low complexity region	628	646	N/A	INTRINSIC
UIM	704	723	1.33e1	SMART
UIM	806	825	1.04e-1	SMART
UIM	828	847	2.11e-2	SMART
low complexity region	893	909	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970		probably null	Het
Camk1d	A	T	2: 5,354,704	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984		silent	Het
Dlgap2	T	C	8: 14,846,679	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338		probably null	Het
Fbxw7	G	A	3: 84,967,545	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083		probably benign	Het
Irf2bp2	T	A	8: 126,591,255	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339		probably null	Het
Ltn1	A	T	16: 87,402,024		probably null	Het
Mafa	G	T	15: 75,747,736	P63T	unknown	Het
Mars2	T	A	1: 55,237,862	L208H	probably damaging	Het
Myom2	A	G	8: 15,106,459	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Prdm16	A	G	4: 154,323,353	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375		probably null	Het
Six1	T	G	12: 73,045,934	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401		probably null	Het
Spryd3	A	G	15: 102,130,364	S141P	probably damaging	Het
Src	A	T	2: 157,463,038	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stc2	A	G	11: 31,365,326		probably null	Het
Taf6l	T	C	19: 8,778,208	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316	E660G	probably damaging	Het

Other mutations in Plcd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Plcd4	APN	1	74552115	missense	probably damaging	1.00
IGL01806:Plcd4	APN	1	74552033	missense	probably benign	0.42
IGL02537:Plcd4	APN	1	74556050	missense	possibly damaging	0.55
IGL02574:Plcd4	APN	1	74564380	missense	probably damaging	1.00
IGL02812:Plcd4	APN	1	74557808	missense	probably damaging	1.00
IGL03350:Plcd4	APN	1	74549301	missense	probably damaging	1.00
R0415:Plcd4	UTSW	1	74552097	missense	probably damaging	0.99
R1699:Plcd4	UTSW	1	74548235	missense	probably benign	0.01
R1852:Plcd4	UTSW	1	74549361	missense	possibly damaging	0.92
R2120:Plcd4	UTSW	1	74564425	missense	probably benign	0.00
R2125:Plcd4	UTSW	1	74565152	missense	probably damaging	1.00
R3023:Plcd4	UTSW	1	74548192	missense	probably damaging	1.00
R3157:Plcd4	UTSW	1	74551154	splice site	probably null
R4535:Plcd4	UTSW	1	74563468	missense	probably damaging	1.00
R4863:Plcd4	UTSW	1	74565802	splice site	probably null
R4911:Plcd4	UTSW	1	74564413	missense	possibly damaging	0.78
R4987:Plcd4	UTSW	1	74547959	unclassified	probably benign
R5102:Plcd4	UTSW	1	74565154	missense	probably damaging	1.00
R5752:Plcd4	UTSW	1	74547972	splice site	probably null
R5887:Plcd4	UTSW	1	74551090	missense	probably damaging	1.00
R6318:Plcd4	UTSW	1	74563594	missense	possibly damaging	0.61
R6648:Plcd4	UTSW	1	74552013	missense	probably benign	0.00
R6796:Plcd4	UTSW	1	74562070	missense	probably benign	0.03
R6920:Plcd4	UTSW	1	74565835	unclassified	probably benign
R7047:Plcd4	UTSW	1	74551989	missense	possibly damaging	0.87
R7121:Plcd4	UTSW	1	74565365	missense	probably benign
R7134:Plcd4	UTSW	1	74554503	missense	probably benign	0.05
R7270:Plcd4	UTSW	1	74554679	missense	possibly damaging	0.89
R7344:Plcd4	UTSW	1	74554652	missense	probably damaging	1.00
R7363:Plcd4	UTSW	1	74551072	missense	probably null	0.99
R7749:Plcd4	UTSW	1	74565133	missense	possibly damaging	0.60
R7980:Plcd4	UTSW	1	74565305	missense	probably benign	0.00
R8240:Plcd4	UTSW	1	74554501	missense	probably benign	0.38
R8762:Plcd4	UTSW	1	74552054	missense	possibly damaging	0.71
R9000:Plcd4	UTSW	1	74561865	nonsense	probably null
R9114:Plcd4	UTSW	1	74552148	missense	possibly damaging	0.60
R9162:Plcd4	UTSW	1	74562203	missense	probably benign	0.00
R9252:Plcd4	UTSW	1	74549200	missense	probably damaging	0.97
R9579:Plcd4	UTSW	1	74557789	missense	probably benign	0.00
Z1176:Plcd4	UTSW	1	74548126	missense	probably benign	0.04
Z1176:Plcd4	UTSW	1	74557792	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTAGCCCCTGGTTCCAGAG -3'
(R):5'- ACAGGGCTGGCACAATATTG -3'

Sequencing Primer
(F):5'- AGAGTTCCTCTGGGCCC -3'
(R):5'- TCACATATTAGCTCGGCGAG -3'

Posted On

2015-09-24