Mutagenetix > Incidental Mutation

Incidental Mutation 'R8233:Plcxd3'

637234

Institutional Source

Beutler Lab

Gene Symbol

Plcxd3

Ensembl Gene

ENSMUSG00000049148

Gene Name

phosphatidylinositol-specific phospholipase C, X domain containing 3

Synonyms

B130016O10Rik

MMRRC Submission

067665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R8233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4404973-4605035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4546317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 107 (D107G)

Ref Sequence

ENSEMBL: ENSMUSP00000053553 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061925
AA Change: D107G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053553
Gene: ENSMUSG00000049148
AA Change: D107G

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,602,687 (GRCm39)	V42E	probably benign	Het
Abca12	T	C	1: 71,390,916 (GRCm39)	E153G	probably benign	Het
Adamts20	A	C	15: 94,189,533 (GRCm39)	I1440S	probably benign	Het
Aspm	T	A	1: 139,385,042 (GRCm39)	S229T	probably benign	Het
Atp2b2	A	T	6: 113,742,680 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,900,989 (GRCm39)	H1032N	unknown	Het
Col6a2	A	G	10: 76,444,540 (GRCm39)		probably null	Het
Crot	A	T	5: 9,026,027 (GRCm39)	I320K	possibly damaging	Het
D5Ertd579e	A	T	5: 36,772,588 (GRCm39)	D602E	probably damaging	Het
Degs1	A	G	1: 182,107,160 (GRCm39)	V69A	probably benign	Het
Dgkz	A	G	2: 91,769,994 (GRCm39)	S557P	probably damaging	Het
Fat1	T	A	8: 45,405,055 (GRCm39)	L602Q		Het
Gli2	A	T	1: 118,772,167 (GRCm39)	Y513N	probably damaging	Het
H2-Q10	A	G	17: 35,781,983 (GRCm39)	T202A	probably benign	Het
Hnrnpa3	A	G	2: 75,492,860 (GRCm39)	N195D	probably benign	Het
Ifna1	C	T	4: 88,768,628 (GRCm39)	T102I	possibly damaging	Het
Igfbp3	T	A	11: 7,160,152 (GRCm39)	H167L	probably benign	Het
Igfn1	T	C	1: 135,895,782 (GRCm39)	T1595A	probably benign	Het
Krt14	A	G	11: 100,094,178 (GRCm39)	V472A	probably damaging	Het
Lrrc74b	T	A	16: 17,376,089 (GRCm39)	H187L	probably benign	Het
Magoh	T	G	4: 107,738,132 (GRCm39)	V44G	possibly damaging	Het
Mbnl1	A	T	3: 60,532,551 (GRCm39)	I274L	probably benign	Het
Or13a27	T	G	7: 139,925,411 (GRCm39)	M164L	probably benign	Het
Or4c108	C	T	2: 88,804,082 (GRCm39)	R51H	probably benign	Het
Pdcd1	A	G	1: 93,967,142 (GRCm39)	V252A	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2m	T	A	9: 71,390,866 (GRCm39)	D112V	probably benign	Het
Ptprn	A	T	1: 75,229,796 (GRCm39)	M701K	probably damaging	Het
Rxrb	A	G	17: 34,255,879 (GRCm39)	D421G	possibly damaging	Het
Slfn4	A	G	11: 83,078,355 (GRCm39)	E381G	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srgap1	A	G	10: 121,661,341 (GRCm39)	I530T	probably damaging	Het
Stmn4	A	G	14: 66,595,341 (GRCm39)	H122R	probably damaging	Het
Sycp2	T	C	2: 177,998,427 (GRCm39)	E1031G	probably damaging	Het
Tle1	T	C	4: 72,043,181 (GRCm39)	T553A	probably benign	Het
Tnik	T	A	3: 28,609,086 (GRCm39)	W217R	unknown	Het
Tyrp1	T	C	4: 80,769,190 (GRCm39)	V161A	unknown	Het
Usp29	T	A	7: 6,965,406 (GRCm39)	F416L	probably benign	Het
Usp45	T	C	4: 21,781,736 (GRCm39)	V34A	probably benign	Het
Vmn1r119	A	G	7: 20,745,932 (GRCm39)	V150A	probably damaging	Het

Other mutations in Plcxd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02642:Plcxd3	APN	15	4,546,122 (GRCm39)	missense	possibly damaging	0.91
IGL02743:Plcxd3	APN	15	4,604,285 (GRCm39)	missense	possibly damaging	0.92
IGL03230:Plcxd3	APN	15	4,546,272 (GRCm39)	missense	probably damaging	0.99
R0599:Plcxd3	UTSW	15	4,546,349 (GRCm39)	missense	probably damaging	0.96
R0724:Plcxd3	UTSW	15	4,546,350 (GRCm39)	missense	probably damaging	0.99
R0939:Plcxd3	UTSW	15	4,546,344 (GRCm39)	nonsense	probably null
R1536:Plcxd3	UTSW	15	4,546,093 (GRCm39)	splice site	probably benign
R1648:Plcxd3	UTSW	15	4,405,291 (GRCm39)	missense	probably benign
R1858:Plcxd3	UTSW	15	4,546,093 (GRCm39)	splice site	probably benign
R2418:Plcxd3	UTSW	15	4,604,245 (GRCm39)	missense	probably benign	0.04
R2419:Plcxd3	UTSW	15	4,604,245 (GRCm39)	missense	probably benign	0.04
R4640:Plcxd3	UTSW	15	4,546,725 (GRCm39)	missense	probably damaging	0.99
R4702:Plcxd3	UTSW	15	4,405,269 (GRCm39)	missense	probably benign
R5372:Plcxd3	UTSW	15	4,604,270 (GRCm39)	missense	probably benign
R5705:Plcxd3	UTSW	15	4,546,676 (GRCm39)	missense	probably benign	0.43
R6302:Plcxd3	UTSW	15	4,546,239 (GRCm39)	missense	probably damaging	1.00
R7050:Plcxd3	UTSW	15	4,546,200 (GRCm39)	missense	probably damaging	0.96
R7283:Plcxd3	UTSW	15	4,546,401 (GRCm39)	missense	probably damaging	0.97
R7856:Plcxd3	UTSW	15	4,546,581 (GRCm39)	missense	probably damaging	0.98
R8272:Plcxd3	UTSW	15	4,546,218 (GRCm39)	missense	probably damaging	0.99
R8782:Plcxd3	UTSW	15	4,546,250 (GRCm39)	missense	probably benign	0.27
R9517:Plcxd3	UTSW	15	4,405,160 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCTTCTACATTGATGAAGCTTCTC -3'
(R):5'- GGCTGGGCACATCTTGTTTC -3'

Sequencing Primer
(F):5'- ATGAAGCTTCTCCAGTAGGC -3'
(R):5'- GGCACATCTTGTTTCCATAGATG -3'

Posted On

2020-07-13