Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Plcxd2'

186070

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plcxd2

Ensembl Gene

ENSMUSG00000087141

Gene Name

phosphatidylinositol-specific phospholipase C, X domain containing 2

Synonyms

EG433022

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

45959263-46010218 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45972343 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 211 (I211N)

Ref Sequence

ENSEMBL: ENSMUSP00000114852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130481]

Predicted Effect

probably benign
Transcript: ENSMUST00000130481
AA Change: I211N

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114852
Gene: ENSMUSG00000087141
AA Change: I211N

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	27	329	3e-71	SMART
PDB:1AOD\|A	28	160	6e-8	PDB
Blast:PLCXc	46	212	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154775

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Plcxd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Plcxd2	APN	16	45965061	missense	probably benign
IGL02011:Plcxd2	APN	16	45965091	missense	probably damaging	0.96
IGL02658:Plcxd2	APN	16	45972326	missense	probably benign	0.25
IGL03082:Plcxd2	APN	16	45965110	missense	probably damaging	1.00
R0137:Plcxd2	UTSW	16	45980526	missense	probably damaging	1.00
R0173:Plcxd2	UTSW	16	45965179	splice site	probably null
R0276:Plcxd2	UTSW	16	46009707	missense	probably benign	0.12
R0453:Plcxd2	UTSW	16	45980556	missense	probably damaging	0.99
R3848:Plcxd2	UTSW	16	45972266	missense	probably damaging	1.00
R3963:Plcxd2	UTSW	16	45980501	missense	probably damaging	1.00
R4820:Plcxd2	UTSW	16	45980337	missense	probably benign	0.00
R4915:Plcxd2	UTSW	16	45980578	nonsense	probably null
R5293:Plcxd2	UTSW	16	45980343	missense	probably damaging	1.00
R6477:Plcxd2	UTSW	16	45980659	missense	probably damaging	0.98
R6629:Plcxd2	UTSW	16	45965107	missense	probably damaging	1.00
R6725:Plcxd2	UTSW	16	45972125	missense	probably damaging	0.98
R6845:Plcxd2	UTSW	16	46009860	start gained	probably benign
R6953:Plcxd2	UTSW	16	45980519	missense	probably damaging	1.00
R7365:Plcxd2	UTSW	16	45980426	missense	probably damaging	0.99
R7711:Plcxd2	UTSW	16	45980330	missense	probably benign	0.04
R7821:Plcxd2	UTSW	16	45965161	missense	probably damaging	1.00
R7875:Plcxd2	UTSW	16	46009702	missense	possibly damaging	0.93
R8500:Plcxd2	UTSW	16	45980586	missense	probably damaging	1.00

Posted On

2014-05-07