Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Plcxd2'

302433

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

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

45779626-45830581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45792689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 217 (F217I)

Ref Sequence

ENSEMBL: ENSMUSP00000114852 (fasta)

Gene Model

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

AlphaFold

B2RXA1

Predicted Effect

probably benign
Transcript: ENSMUST00000130481
AA Change: F217I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114852
Gene: ENSMUSG00000087141
AA Change: F217I

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,386 (GRCm39)	Y946F	probably benign	Het
Abcb4	T	G	5: 8,984,240 (GRCm39)	W657G	probably benign	Het
Adcy1	T	C	11: 7,088,279 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,124,047 (GRCm39)	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,153,201 (GRCm39)	Y89S	probably benign	Het
Carns1	C	T	19: 4,223,083 (GRCm39)	C47Y	probably benign	Het
Chd5	C	T	4: 152,445,050 (GRCm39)	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,957,807 (GRCm39)	T481A	probably benign	Het
Cyth1	T	A	11: 118,073,072 (GRCm39)	D264V	probably damaging	Het
Dph1	C	A	11: 75,071,461 (GRCm39)	L311F	probably benign	Het
Eif3l	A	G	15: 78,961,142 (GRCm39)	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,976,146 (GRCm39)	F3Y	probably benign	Het
Hcn4	A	T	9: 58,766,748 (GRCm39)	T770S	unknown	Het
Hydin	A	T	8: 111,139,908 (GRCm39)	I726F	possibly damaging	Het
Klf2	A	G	8: 73,072,940 (GRCm39)	I7V	probably benign	Het
Ltn1	A	T	16: 87,212,662 (GRCm39)	L633H	probably damaging	Het
Ncoa3	A	G	2: 165,893,313 (GRCm39)	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,149,138 (GRCm39)	D248E	probably benign	Het
Nyap1	A	G	5: 137,733,746 (GRCm39)	I429T	probably damaging	Het
Or1j10	T	A	2: 36,267,072 (GRCm39)	C95S	probably damaging	Het
Or2p2	G	A	13: 21,256,982 (GRCm39)	T163I	probably damaging	Het
Or2t6	T	A	14: 14,175,732 (GRCm38)	M117L	possibly damaging	Het
Or51g1	A	G	7: 102,633,537 (GRCm39)	M278T	probably benign	Het
Or8s16	A	G	15: 98,211,237 (GRCm39)	S65P	probably damaging	Het
Pcf11	T	C	7: 92,296,254 (GRCm39)	E1322G	probably damaging	Het
Plxna4	A	T	6: 32,162,346 (GRCm39)	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,091 (GRCm39)	Y239C	probably benign	Het
Psma6	A	G	12: 55,458,996 (GRCm39)	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,551,141 (GRCm39)	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,663,240 (GRCm39)	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992 (GRCm39)	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,765,613 (GRCm39)	N345I	probably benign	Het
Sncaip	T	C	18: 53,028,027 (GRCm39)	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,178,530 (GRCm39)	I864N	probably damaging	Het
Spag5	C	T	11: 78,212,157 (GRCm39)	Q1062*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Szrd1	A	G	4: 140,867,057 (GRCm39)		probably benign	Het
Tns2	C	A	15: 102,016,231 (GRCm39)		probably benign	Het
Trcg1	C	A	9: 57,149,511 (GRCm39)	S361*	probably null	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,280,090 (GRCm39)	V124A	probably damaging	Het
Ttf1	T	C	2: 28,964,023 (GRCm39)	I633T	probably damaging	Het
Zfp691	A	G	4: 119,027,704 (GRCm39)	F176S	probably damaging	Het

Other mutations in Plcxd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Plcxd2	APN	16	45,785,424 (GRCm39)	missense	probably benign
IGL02011:Plcxd2	APN	16	45,785,454 (GRCm39)	missense	probably damaging	0.96
IGL02079:Plcxd2	APN	16	45,792,706 (GRCm39)	missense	probably benign	0.43
IGL03082:Plcxd2	APN	16	45,785,473 (GRCm39)	missense	probably damaging	1.00
G1patch:Plcxd2	UTSW	16	45,792,488 (GRCm39)	missense	probably damaging	0.98
R0137:Plcxd2	UTSW	16	45,800,889 (GRCm39)	missense	probably damaging	1.00
R0173:Plcxd2	UTSW	16	45,785,542 (GRCm39)	splice site	probably null
R0276:Plcxd2	UTSW	16	45,830,070 (GRCm39)	missense	probably benign	0.12
R0453:Plcxd2	UTSW	16	45,800,919 (GRCm39)	missense	probably damaging	0.99
R3848:Plcxd2	UTSW	16	45,792,629 (GRCm39)	missense	probably damaging	1.00
R3963:Plcxd2	UTSW	16	45,800,864 (GRCm39)	missense	probably damaging	1.00
R4820:Plcxd2	UTSW	16	45,800,700 (GRCm39)	missense	probably benign	0.00
R4915:Plcxd2	UTSW	16	45,800,941 (GRCm39)	nonsense	probably null
R5293:Plcxd2	UTSW	16	45,800,706 (GRCm39)	missense	probably damaging	1.00
R6477:Plcxd2	UTSW	16	45,801,022 (GRCm39)	missense	probably damaging	0.98
R6629:Plcxd2	UTSW	16	45,785,470 (GRCm39)	missense	probably damaging	1.00
R6725:Plcxd2	UTSW	16	45,792,488 (GRCm39)	missense	probably damaging	0.98
R6845:Plcxd2	UTSW	16	45,830,223 (GRCm39)	start gained	probably benign
R6953:Plcxd2	UTSW	16	45,800,882 (GRCm39)	missense	probably damaging	1.00
R7365:Plcxd2	UTSW	16	45,800,789 (GRCm39)	missense	probably damaging	0.99
R7711:Plcxd2	UTSW	16	45,800,693 (GRCm39)	missense	probably benign	0.04
R7821:Plcxd2	UTSW	16	45,785,524 (GRCm39)	missense	probably damaging	1.00
R7875:Plcxd2	UTSW	16	45,830,065 (GRCm39)	missense	possibly damaging	0.93
R8500:Plcxd2	UTSW	16	45,800,949 (GRCm39)	missense	probably damaging	1.00
R9781:Plcxd2	UTSW	16	45,830,117 (GRCm39)	missense	probably benign	0.25

Posted On

2015-04-16