Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Plcd4'

539552

Institutional Source

Beutler Lab

Gene Symbol

Plcd4

Ensembl Gene

ENSMUSG00000026173

Gene Name

phospholipase C, delta 4

Synonyms

4921507K24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74542888-74567794 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 74565835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027315] [ENSMUST00000027362] [ENSMUST00000066986] [ENSMUST00000067916] [ENSMUST00000113737] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000127921] [ENSMUST00000141412] [ENSMUST00000152707] [ENSMUST00000156613]

AlphaFold

Q8K3R3

Predicted Effect

probably benign
Transcript: ENSMUST00000027315

SMART Domains

Protein: ENSMUSP00000027315
Gene: ENSMUSG00000026135

Domain	Start	End	E-Value	Type
ZnF_C2H2	103	127	1.16e1	SMART
ZnF_C2H2	164	186	1.26e-2	SMART
ZnF_C2H2	193	218	7.78e-3	SMART
ZnF_C2H2	223	247	2.29e0	SMART
ZnF_C2H2	250	272	9.96e-1	SMART
low complexity region	317	329	N/A	INTRINSIC
ZnF_C2H2	363	385	9.96e-1	SMART
ZnF_C2H2	391	411	1.26e1	SMART
ZnF_C2H2	419	442	1.47e-3	SMART
ZnF_C2H2	453	475	2.75e-3	SMART
ZnF_C2H2	486	511	3.34e-2	SMART
ZnF_C2H2	516	540	4.81e0	SMART
ZnF_C2H2	543	566	7.05e-1	SMART
ZnF_C2H2	572	595	2.17e-1	SMART
ZnF_C2H2	601	623	1.56e-2	SMART
ZnF_C2H2	629	651	8.94e-3	SMART
ZnF_C2H2	657	679	1.38e-3	SMART
ZnF_C2H2	685	707	9.44e-2	SMART
ZnF_C2H2	712	735	1.26e-2	SMART
ZnF_C2H2	744	767	1.31e0	SMART
ZnF_C2H2	773	796	2.63e0	SMART
low complexity region	903	919	N/A	INTRINSIC
low complexity region	953	969	N/A	INTRINSIC
low complexity region	996	1007	N/A	INTRINSIC
ZnF_C2H2	1039	1059	2.01e1	SMART
ZnF_C2H2	1069	1089	1.91e1	SMART
low complexity region	1147	1160	N/A	INTRINSIC
ZnF_C2H2	1187	1207	2.7e2	SMART
low complexity region	1209	1222	N/A	INTRINSIC
ZnF_C2H2	1265	1285	3.56e1	SMART
ZnF_C2H2	1295	1318	4.98e-1	SMART
ZnF_C2H2	1331	1354	2.49e-1	SMART
ZnF_C2H2	1360	1382	1.03e-2	SMART
ZnF_C2H2	1388	1411	5.72e-1	SMART
ZnF_C2H2	1417	1440	6.75e0	SMART
ZnF_C2H2	1446	1469	9.58e-3	SMART
ZnF_C2H2	1488	1511	1.64e-1	SMART
ZnF_C2H2	1514	1536	1.1e-2	SMART
ZnF_C2H2	1540	1563	4.05e-1	SMART
ZnF_C2H2	1580	1602	4.45e0	SMART
ZnF_C2H2	1608	1630	8.81e-2	SMART
ZnF_C2H2	1636	1658	1.18e-2	SMART
ZnF_C2H2	1664	1686	1.2e-3	SMART
ZnF_C2H2	1692	1715	3.89e-3	SMART
ZnF_C2H2	1721	1743	4.54e-4	SMART
ZnF_C2H2	1749	1771	1.18e-2	SMART
ZnF_C2H2	1777	1799	3.52e-1	SMART
low complexity region	1829	1838	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000027362

SMART Domains

Protein: ENSMUSP00000027362
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
PLCYc	538	654	1.26e-75	SMART
C2	673	779	5.68e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066986

SMART Domains

Protein: ENSMUSP00000065149
Gene: ENSMUSG00000026135

Domain	Start	End	E-Value	Type
low complexity region	116	128	N/A	INTRINSIC
ZnF_C2H2	162	184	9.96e-1	SMART
ZnF_C2H2	190	210	1.26e1	SMART
ZnF_C2H2	218	241	1.47e-3	SMART
ZnF_C2H2	252	274	2.75e-3	SMART
ZnF_C2H2	285	310	3.34e-2	SMART
ZnF_C2H2	315	339	4.81e0	SMART
ZnF_C2H2	342	365	7.05e-1	SMART
ZnF_C2H2	371	394	2.17e-1	SMART
ZnF_C2H2	400	422	1.56e-2	SMART
ZnF_C2H2	428	450	8.94e-3	SMART
ZnF_C2H2	456	478	1.38e-3	SMART
ZnF_C2H2	484	506	9.44e-2	SMART
ZnF_C2H2	511	534	1.26e-2	SMART
ZnF_C2H2	543	566	1.31e0	SMART
ZnF_C2H2	572	595	2.63e0	SMART
low complexity region	702	718	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC
low complexity region	795	806	N/A	INTRINSIC
ZnF_C2H2	838	858	2.01e1	SMART
ZnF_C2H2	868	888	1.91e1	SMART
low complexity region	946	959	N/A	INTRINSIC
ZnF_C2H2	986	1006	2.7e2	SMART
low complexity region	1008	1021	N/A	INTRINSIC
ZnF_C2H2	1064	1084	3.56e1	SMART
ZnF_C2H2	1094	1117	4.98e-1	SMART
ZnF_C2H2	1130	1153	2.49e-1	SMART
ZnF_C2H2	1159	1181	1.03e-2	SMART
ZnF_C2H2	1187	1210	5.72e-1	SMART
ZnF_C2H2	1216	1239	6.75e0	SMART
ZnF_C2H2	1245	1268	9.58e-3	SMART
ZnF_C2H2	1287	1310	1.64e-1	SMART
ZnF_C2H2	1313	1335	1.1e-2	SMART
ZnF_C2H2	1339	1362	4.05e-1	SMART
ZnF_C2H2	1379	1401	4.45e0	SMART
ZnF_C2H2	1407	1429	8.81e-2	SMART
ZnF_C2H2	1435	1457	1.18e-2	SMART
ZnF_C2H2	1463	1485	1.2e-3	SMART
ZnF_C2H2	1491	1514	3.89e-3	SMART
ZnF_C2H2	1520	1542	4.54e-4	SMART
ZnF_C2H2	1548	1570	1.18e-2	SMART
ZnF_C2H2	1576	1598	3.52e-1	SMART
low complexity region	1628	1637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067916

SMART Domains

Protein: ENSMUSP00000064413
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
PLCYc	506	622	1.26e-75	SMART
C2	641	747	5.68e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113737

SMART Domains

Protein: ENSMUSP00000109366
Gene: ENSMUSG00000026135

Domain	Start	End	E-Value	Type
ZnF_C2H2	93	115	9.81e1	SMART
ZnF_C2H2	120	144	2.29e0	SMART
ZnF_C2H2	147	169	9.96e-1	SMART
low complexity region	214	226	N/A	INTRINSIC
ZnF_C2H2	260	282	9.96e-1	SMART
ZnF_C2H2	288	308	1.26e1	SMART
ZnF_C2H2	316	339	1.47e-3	SMART
ZnF_C2H2	350	372	2.75e-3	SMART
ZnF_C2H2	383	408	3.34e-2	SMART
ZnF_C2H2	413	437	4.81e0	SMART
ZnF_C2H2	440	463	7.05e-1	SMART
ZnF_C2H2	469	492	2.17e-1	SMART
ZnF_C2H2	498	520	1.56e-2	SMART
ZnF_C2H2	526	548	8.94e-3	SMART
ZnF_C2H2	554	576	1.38e-3	SMART
ZnF_C2H2	582	604	9.44e-2	SMART
ZnF_C2H2	609	632	1.26e-2	SMART
ZnF_C2H2	641	664	1.31e0	SMART
ZnF_C2H2	670	693	2.63e0	SMART
low complexity region	800	816	N/A	INTRINSIC
low complexity region	850	866	N/A	INTRINSIC
low complexity region	893	904	N/A	INTRINSIC
ZnF_C2H2	936	956	2.01e1	SMART
ZnF_C2H2	966	986	1.91e1	SMART
low complexity region	1044	1057	N/A	INTRINSIC
ZnF_C2H2	1084	1104	2.7e2	SMART
low complexity region	1106	1119	N/A	INTRINSIC
ZnF_C2H2	1162	1182	3.56e1	SMART
ZnF_C2H2	1192	1215	4.98e-1	SMART
ZnF_C2H2	1228	1251	2.49e-1	SMART
ZnF_C2H2	1257	1279	1.03e-2	SMART
ZnF_C2H2	1285	1308	5.72e-1	SMART
ZnF_C2H2	1314	1337	6.75e0	SMART
ZnF_C2H2	1343	1366	9.58e-3	SMART
ZnF_C2H2	1385	1408	1.64e-1	SMART
ZnF_C2H2	1411	1433	1.1e-2	SMART
ZnF_C2H2	1437	1460	4.05e-1	SMART
ZnF_C2H2	1477	1499	4.45e0	SMART
ZnF_C2H2	1505	1527	8.81e-2	SMART
ZnF_C2H2	1533	1555	1.18e-2	SMART
ZnF_C2H2	1561	1583	1.2e-3	SMART
ZnF_C2H2	1589	1612	3.89e-3	SMART
ZnF_C2H2	1618	1640	4.54e-4	SMART
ZnF_C2H2	1646	1668	1.18e-2	SMART
ZnF_C2H2	1674	1696	3.52e-1	SMART
low complexity region	1726	1735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113747

SMART Domains

Protein: ENSMUSP00000109376
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
PLCYc	506	622	1.26e-75	SMART
C2	641	747	5.68e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113749

SMART Domains

Protein: ENSMUSP00000109378
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
PLCYc	538	654	1.26e-75	SMART
C2	673	779	5.68e-20	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000113750
AA Change: D797G

SMART Domains

Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: D797G

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 benign
Transcript: ENSMUST00000127921

Predicted Effect

probably benign
Transcript: ENSMUST00000141412

SMART Domains

Protein: ENSMUSP00000115322
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 benign
Transcript: ENSMUST00000152707

SMART Domains

Protein: ENSMUSP00000121732
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 benign
Transcript: ENSMUST00000156613

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,068,050	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 121,535,421		probably null	Het
Aadat	T	C	8: 60,529,433	F245L	probably damaging	Het
Adcy10	T	G	1: 165,575,658	L1575W	probably damaging	Het
Anks4b	A	T	7: 120,183,008	T421S	probably damaging	Het
Anpep	A	T	7: 79,825,349	I155N	probably damaging	Het
Arnt	T	C	3: 95,490,621	F572L	probably damaging	Het
Brip1	G	A	11: 86,148,536	Q391*	probably null	Het
Brpf3	C	A	17: 28,823,996	H1004N	probably benign	Het
Cand2	T	A	6: 115,791,289	V465D	possibly damaging	Het
Card10	G	T	15: 78,802,409	Y69*	probably null	Het
Catsperd	A	T	17: 56,655,175	K450*	probably null	Het
Ccdc137	T	C	11: 120,460,183	L137P	probably damaging	Het
Cic	T	C	7: 25,290,682	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,644,205	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,472,212	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,310	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,308,242	K214R	unknown	Het
Fam180a	T	G	6: 35,313,830	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,341,421	H51N	probably benign	Het
Gm12728	T	G	4: 105,790,336		probably null	Het
Gm973	T	C	1: 59,552,461	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,043,236	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,412,361		probably null	Het
Htt	T	G	5: 34,877,100	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,435,132	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,526,534		probably null	Het
Klc1	T	C	12: 111,787,585	S105P	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,908,689	D469G	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Mboat4	G	A	8: 34,124,711	R434H	probably benign	Het
Mttp	T	C	3: 138,115,282	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,793,298	C337Y	possibly damaging	Het
Nars	A	G	18: 64,501,400	V484A	probably damaging	Het
Noxa1	G	T	2: 25,091,832		probably null	Het
Olfr297	A	G	7: 86,527,314	T186A	probably benign	Het
Olfr830	T	A	9: 18,875,525	L63H	probably damaging	Het
Osbpl7	G	A	11: 97,050,758	G36S	probably damaging	Het
P4htm	C	T	9: 108,583,613	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,715,146	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,185,314	E250K	possibly damaging	Het
Ppfia3	C	A	7: 45,358,807	G213V	possibly damaging	Het
Ppp1r1a	A	G	15: 103,533,086	S67P	probably damaging	Het
Prss43	T	C	9: 110,828,612	F193S	probably benign	Het
Rfx1	A	G	8: 84,095,488	Y872C	probably damaging	Het
Rhot1	T	A	11: 80,242,095	N218K	probably benign	Het
Sall1	A	G	8: 89,030,393	F1028L	probably damaging	Het
Siglec1	G	A	2: 131,078,077	Q845*	probably null	Het
Slc38a9	C	T	13: 112,701,526	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,613,270	S481T	probably damaging	Het
Ssr1	A	T	13: 37,986,022	N191K	probably damaging	Het
Tenm4	A	T	7: 96,895,550	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,606,147	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,428,635	T119M	probably benign	Het
Traip	C	T	9: 107,961,041	R142*	probably null	Het
Utrn	T	C	10: 12,750,470	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,847,648	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,623,900	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,849,046	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,248	N110S	probably damaging	Het
Vwce	A	G	19: 10,664,693	T928A	probably benign	Het
Zfp608	T	A	18: 54,988,265	K83N	probably damaging	Het
Zfp808	A	G	13: 62,173,168	H737R	probably benign	Het
Zswim4	T	C	8: 84,214,085	N795S	probably benign	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
R4581:Plcd4	UTSW	1	74548224	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
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'- CCTTTTGTGCACTCTTATGTGAGAG -3'
(R):5'- AACGTCGTTTCTCTGCACCG -3'

Sequencing Primer
(F):5'- GTGAGAGTTTACTCCTTATTCTTGC -3'
(R):5'- GTTTCTCTGCACCGCAAGC -3'

Posted On

2018-11-06