Mutagenetix > Incidental Mutations

Incidental Mutation 'R1536:Plcxd3'

169550

Institutional Source

Beutler Lab

Gene Symbol

Plcxd3

Ensembl Gene

ENSMUSG00000049148

Gene Name

phosphatidylinositol-specific phospholipase C, X domain containing 3

Synonyms

MMRRC Submission

039575-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R1536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4375491-4575553 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 4516611 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061925] [ENSMUST00000130332]

Predicted Effect

probably benign
Transcript: ENSMUST00000061925

SMART Domains

Protein: ENSMUSP00000053553
Gene: ENSMUSG00000049148

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	2	311	2e-62	SMART
PDB:1AOD\|A	7	166	1e-8	PDB
Blast:PLCXc	23	148	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130332

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,970,665	I3F	probably benign	Het
4930590J08Rik	A	G	6: 91,917,035	N211S	probably benign	Het
A2ml1	A	T	6: 128,547,233	Y1145*	probably null	Het
Abca7	A	G	10: 80,014,230	D1972G	probably benign	Het
Adamts19	A	T	18: 59,052,615	D1187V	probably damaging	Het
Adcy6	G	C	15: 98,600,007	I421M	probably damaging	Het
Afap1	C	A	5: 35,974,491	H387Q	probably damaging	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Auts2	C	T	5: 131,487,463		probably benign	Het
Cbll1	T	C	12: 31,487,856	D300G	probably damaging	Het
Cd200r4	A	T	16: 44,833,049	T61S	possibly damaging	Het
Chmp4c	G	T	3: 10,389,684	V207L	probably benign	Het
Cntn5	T	C	9: 9,976,316	T413A	possibly damaging	Het
Cox7a2	T	A	9: 79,758,581		probably null	Het
Cwc27	A	G	13: 104,797,306	L236P	probably damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dst	T	A	1: 34,260,372		probably benign	Het
Ear1	T	A	14: 43,819,126	H95L	probably damaging	Het
Enpp1	T	A	10: 24,641,834	H898L	probably benign	Het
Entpd5	G	A	12: 84,382,295	R321*	probably null	Het
Ercc6l2	C	A	13: 63,824,871	N177K	possibly damaging	Het
Ergic1	T	C	17: 26,641,706		probably null	Het
Erich6	A	T	3: 58,626,598	I336N	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Galnt3	A	T	2: 66,084,206	D622E	probably damaging	Het
Gjd4	T	A	18: 9,280,569	T170S	probably damaging	Het
Gm5611	G	A	9: 17,030,607		noncoding transcript	Het
Gpc5	T	A	14: 115,399,250	N448K	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Man2b2	T	C	5: 36,820,927	T338A	probably benign	Het
Mbtps1	A	T	8: 119,546,125	S94T	probably benign	Het
Muc3a	A	T	5: 137,210,081	S205T	unknown	Het
Nav2	C	A	7: 49,545,934	D1019E	probably damaging	Het
Neurl4	T	A	11: 69,903,426	L236*	probably null	Het
Olfr272	A	G	4: 52,911,260	V178A	probably benign	Het
Pprc1	T	C	19: 46,071,526		probably benign	Het
Prkaa2	T	A	4: 105,075,450	N67I	probably damaging	Het
Prom1	T	A	5: 44,018,353	Y508F	probably benign	Het
Prx	A	G	7: 27,517,258	M534V	probably damaging	Het
Rps6kc1	C	T	1: 190,871,768	R219Q	possibly damaging	Het
Sbf2	T	C	7: 110,378,043	Y628C	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Spata31	A	T	13: 64,921,382	Q448L	probably damaging	Het
Stk35	T	C	2: 129,811,235		probably benign	Het
Stxbp5	T	A	10: 9,838,092	R234S	probably damaging	Het
Tifab	A	G	13: 56,176,288	V114A	probably benign	Het
Tiprl	A	G	1: 165,228,406	M49T	probably benign	Het
Tlr12	A	G	4: 128,617,752	L235P	possibly damaging	Het
Tmem57	A	G	4: 134,804,507	V617A	probably damaging	Het
Trim43b	A	T	9: 89,085,358	C407*	probably null	Het
Txndc17	C	A	11: 72,207,707	F28L	probably damaging	Het
Vmn2r27	T	C	6: 124,200,690	R452G	probably damaging	Het
Vmn2r3	T	A	3: 64,275,117	D387V	probably damaging	Het
Vps13b	T	C	15: 35,875,566	I2699T	probably damaging	Het
Zfp944	G	T	17: 22,339,716	Y183*	probably null	Het

Other mutations in Plcxd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02642:Plcxd3	APN	15	4516640	missense	possibly damaging	0.91
IGL02743:Plcxd3	APN	15	4574803	missense	possibly damaging	0.92
IGL03230:Plcxd3	APN	15	4516790	missense	probably damaging	0.99
R0599:Plcxd3	UTSW	15	4516867	missense	probably damaging	0.96
R0724:Plcxd3	UTSW	15	4516868	missense	probably damaging	0.99
R0939:Plcxd3	UTSW	15	4516862	nonsense	probably null
R1648:Plcxd3	UTSW	15	4375809	missense	probably benign
R1858:Plcxd3	UTSW	15	4516611	splice site	probably benign
R2418:Plcxd3	UTSW	15	4574763	missense	probably benign	0.04
R2419:Plcxd3	UTSW	15	4574763	missense	probably benign	0.04
R4640:Plcxd3	UTSW	15	4517243	missense	probably damaging	0.99
R4702:Plcxd3	UTSW	15	4375787	missense	probably benign
R5372:Plcxd3	UTSW	15	4574788	missense	probably benign
R5705:Plcxd3	UTSW	15	4517194	missense	probably benign	0.43
R6302:Plcxd3	UTSW	15	4516757	missense	probably damaging	1.00
R7050:Plcxd3	UTSW	15	4516718	missense	probably damaging	0.96
R7283:Plcxd3	UTSW	15	4516919	missense	probably damaging	0.97
R7856:Plcxd3	UTSW	15	4517099	missense	probably damaging	0.98
R8233:Plcxd3	UTSW	15	4516835	missense	possibly damaging	0.77
R8272:Plcxd3	UTSW	15	4516736	missense	probably damaging	0.99
R8782:Plcxd3	UTSW	15	4516768	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- AGTTTGCTTGACACATTTGAGGG -3'
(R):5'- TTTGTGGTGGTCTGTGAGAAATG -3'

Sequencing Primer
(F):5'- TGACACATTTGAGGGGAAAG -3'
(R):5'- TGCATTGATCTCTTCGAGAC -3'

Posted On

2014-04-13