Mutagenetix > Incidental Mutation

Incidental Mutation 'R5293:Plcxd2'

405268

Institutional Source

Beutler Lab

Gene Symbol

Plcxd2

Ensembl Gene

ENSMUSG00000087141

Gene Name

phosphatidylinositol-specific phospholipase C, X domain containing 2

Synonyms

EG433022

MMRRC Submission

042876-MU

Accession Numbers

Essential gene?

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

Stock #

R5293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45779626-45830581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45800706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 173 (H173N)

Ref Sequence

ENSEMBL: ENSMUSP00000114852 (fasta)

Gene Model

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

AlphaFold

B2RXA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000130481
AA Change: H173N

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

SMART Domains

Protein: ENSMUSP00000114852
Gene: ENSMUSG00000087141
AA Change: H173N

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,300,722 (GRCm39)	V269A	possibly damaging	Het
Akap9	C	T	5: 3,998,687 (GRCm39)	R19W	probably damaging	Het
Akr7a5	G	T	4: 139,041,517 (GRCm39)	R142L	probably benign	Het
Atp6v0a2	A	T	5: 124,784,649 (GRCm39)	M311L	probably benign	Het
Atxn1	C	T	13: 45,721,844 (GRCm39)	R17H	probably damaging	Het
Ccdc116	A	T	16: 16,959,651 (GRCm39)	L346Q	possibly damaging	Het
Copg2	T	A	6: 30,803,162 (GRCm39)	N261I	probably damaging	Het
Crtc2	A	G	3: 90,170,871 (GRCm39)	E648G	probably benign	Het
Dnah10	A	C	5: 124,868,851 (GRCm39)	K2334Q	probably benign	Het
Foxa2	T	C	2: 147,885,922 (GRCm39)	T123A	probably benign	Het
Galnt6	A	G	15: 100,601,382 (GRCm39)	V299A	probably benign	Het
Grip1	T	C	10: 119,733,640 (GRCm39)	S26P	probably damaging	Het
Jkamp	A	G	12: 72,136,883 (GRCm39)	S84G	probably benign	Het
Kcnc1	A	G	7: 46,047,235 (GRCm39)	H45R	probably benign	Het
Knl1	T	C	2: 118,900,176 (GRCm39)	Y626H	probably damaging	Het
Mmp19	T	A	10: 128,626,970 (GRCm39)	V16D	probably damaging	Het
Mrpl38	T	C	11: 116,023,599 (GRCm39)	N280S	probably benign	Het
Myl7	T	A	11: 5,848,521 (GRCm39)		probably benign	Het
Ngef	CCCTCCTCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTCCTCCTC	1: 87,431,151 (GRCm39)		probably benign	Het
Nlrp2	A	C	7: 5,330,614 (GRCm39)	L594R	probably damaging	Het
Or2y3	T	A	17: 38,393,131 (GRCm39)	H246L	probably damaging	Het
Or4f15	T	G	2: 111,813,611 (GRCm39)	K269N	probably damaging	Het
Or52n2c	T	C	7: 104,574,486 (GRCm39)	T162A	probably benign	Het
Pkhd1	T	C	1: 20,579,300 (GRCm39)	E1802G	possibly damaging	Het
Pkhd1l1	T	C	15: 44,399,146 (GRCm39)	V2070A	probably benign	Het
Plec	C	G	15: 76,083,783 (GRCm39)	W26C	probably benign	Het
Psmc1	C	T	12: 100,081,731 (GRCm39)	T111I	probably benign	Het
Rbfa	T	C	18: 80,235,981 (GRCm39)	E256G	probably benign	Het
Sh3d21	T	A	4: 126,046,050 (GRCm39)	T173S	probably benign	Het
Slc41a3	T	A	6: 90,603,426 (GRCm39)	V149E	probably damaging	Het
Sntg1	A	G	1: 8,665,757 (GRCm39)	S186P	probably damaging	Het
Spag4	A	G	2: 155,908,111 (GRCm39)	D29G	probably benign	Het
Spc25	A	G	2: 69,032,996 (GRCm39)	V43A	possibly damaging	Het
Spen	G	A	4: 141,199,717 (GRCm39)	A2947V	possibly damaging	Het
Spta1	T	C	1: 174,023,551 (GRCm39)	S653P	probably damaging	Het
Ssrp1	T	A	2: 84,872,596 (GRCm39)	Y411*	probably null	Het
Synrg	C	T	11: 83,872,325 (GRCm39)	L149F	probably damaging	Het
Trappc11	G	A	8: 47,946,377 (GRCm39)	A1085V	possibly damaging	Het
Ttn	T	C	2: 76,571,276 (GRCm39)	E18212G	probably damaging	Het
Wnk4	T	G	11: 101,166,023 (GRCm39)		probably benign	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
IGL02658:Plcxd2	APN	16	45,792,689 (GRCm39)	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCAAGCAATCTACTTGTTCAGC -3'
(R):5'- ACCTACGGGTGTCTTCCAAG -3'

Sequencing Primer
(F):5'- GTTATGTCACAGCTGTCAACCTAGG -3'
(R):5'- AGCCTGGAGACACTGACCAG -3'

Posted On

2016-07-22