Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Pld3'

263056

Institutional Source

Beutler Lab

Gene Symbol

Pld3

Ensembl Gene

ENSMUSG00000003363

Gene Name

phospholipase D family member 3

Synonyms

Sam-9

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3106 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

27231425-27252643 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 27235212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037134] [ENSMUST00000108353] [ENSMUST00000117095] [ENSMUST00000117611] [ENSMUST00000131106]

AlphaFold

O35405

Predicted Effect

probably benign
Transcript: ENSMUST00000037134

SMART Domains

Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424

Domain	Start	End	E-Value	Type
SCOP:d1howa_	1	142	8e-12	SMART
Blast:S_TKc	1	143	8e-99	BLAST
PDB:3ANR\|D	1	155	1e-12	PDB
low complexity region	192	206	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108353

SMART Domains

Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424

Domain	Start	End	E-Value	Type
S_TKc	11	347	9.31e-74	SMART
low complexity region	396	410	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117095

SMART Domains

Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
PLDc	194	221	9.25e-10	SMART
Pfam:PLDc_3	224	401	1.6e-43	PFAM
PLDc	409	435	1.19e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117611

SMART Domains

Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
PLDc	194	221	9.25e-10	SMART
low complexity region	285	297	N/A	INTRINSIC
PLDc	409	435	1.19e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155287

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,995,856 (GRCm39)	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts17	T	A	7: 66,774,820 (GRCm39)	S980T	probably damaging	Het
Adarb1	C	A	10: 77,157,591 (GRCm39)	K285N	probably damaging	Het
Atp5f1c	A	G	2: 10,068,276 (GRCm39)	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Btf3	T	G	13: 98,447,496 (GRCm39)	E145D	probably benign	Het
Ccdc184	G	T	15: 98,066,482 (GRCm39)	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,481,248 (GRCm39)	Y332H	probably benign	Het
Clip2	T	C	5: 134,551,918 (GRCm39)	K68R	probably benign	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Dennd3	C	A	15: 73,436,973 (GRCm39)	S118*	probably null	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,524,625 (GRCm39)	K249*	probably null	Het
Dzip1l	A	G	9: 99,529,174 (GRCm39)	E301G	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
H1f2	G	T	13: 23,922,883 (GRCm39)	A18S	unknown	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Lemd2	C	A	17: 27,420,644 (GRCm39)	L256F	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or4g17	A	G	2: 111,209,840 (GRCm39)	N165S	probably benign	Het
Or5w13	T	C	2: 87,523,849 (GRCm39)	I126V	probably damaging	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pan3	T	C	5: 147,476,189 (GRCm39)		probably benign	Het
Plekha7	C	T	7: 115,763,639 (GRCm39)	R321K	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Pramel31	T	C	4: 144,088,246 (GRCm39)	V14A	probably benign	Het
Ptpn20	A	G	14: 33,334,253 (GRCm39)	I44V	probably benign	Het
Ptprj	T	A	2: 90,270,975 (GRCm39)	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,067,133 (GRCm39)	L531S	probably damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn2r129	T	A	4: 156,685,730 (GRCm39)		noncoding transcript	Het
Wdr19	T	C	5: 65,359,966 (GRCm39)	S24P	probably benign	Het

Other mutations in Pld3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Pld3	APN	7	27,232,044 (GRCm39)	missense	probably damaging	1.00
R0624:Pld3	UTSW	7	27,239,000 (GRCm39)	missense	possibly damaging	0.94
R1384:Pld3	UTSW	7	27,237,082 (GRCm39)	missense	probably benign	0.00
R1845:Pld3	UTSW	7	27,238,877 (GRCm39)	missense	probably benign	0.01
R2235:Pld3	UTSW	7	27,240,532 (GRCm39)	missense	probably benign	0.00
R5141:Pld3	UTSW	7	27,233,220 (GRCm39)	missense	probably damaging	1.00
R5486:Pld3	UTSW	7	27,233,156 (GRCm39)	missense	probably damaging	0.99
R5518:Pld3	UTSW	7	27,231,796 (GRCm39)	missense	probably damaging	1.00
R5868:Pld3	UTSW	7	27,237,093 (GRCm39)	missense	probably benign	0.00
R6446:Pld3	UTSW	7	27,237,156 (GRCm39)	missense	probably damaging	1.00
R6591:Pld3	UTSW	7	27,231,741 (GRCm39)	missense	probably benign	0.00
R6691:Pld3	UTSW	7	27,231,741 (GRCm39)	missense	probably benign	0.00
R6823:Pld3	UTSW	7	27,235,322 (GRCm39)	missense	probably damaging	1.00
R7162:Pld3	UTSW	7	27,231,899 (GRCm39)	missense	probably damaging	1.00
R8150:Pld3	UTSW	7	27,232,086 (GRCm39)	missense	probably damaging	1.00
R8725:Pld3	UTSW	7	27,239,079 (GRCm39)	nonsense	probably null
R8795:Pld3	UTSW	7	27,235,286 (GRCm39)	missense	possibly damaging	0.52
R9049:Pld3	UTSW	7	27,235,293 (GRCm39)	missense	possibly damaging	0.71
R9096:Pld3	UTSW	7	27,232,089 (GRCm39)	missense	probably benign	0.08
R9292:Pld3	UTSW	7	27,238,879 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACATTAGCAACTGAGCCTGG -3'
(R):5'- TGCCTGCTTCATGGTGAATTATC -3'

Sequencing Primer
(F):5'- AGCCTGGAGCCTCTAGTATTTTAAGC -3'
(R):5'- TGGAATCCACTGTGACACTG -3'

Posted On

2015-02-05