Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Pld1'

384892

Institutional Source

Beutler Lab

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

Accession Numbers

Genbank: NM_001164056; MGI: 109585

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27938695-28133362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28031298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 201 (A201D)

Ref Sequence

ENSEMBL: ENSMUSP00000113810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067757] [ENSMUST00000120834] [ENSMUST00000123539] [ENSMUST00000125338]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067757
AA Change: A201D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: A201D

Domain	Start	End	E-Value	Type
PX	79	209	7.97e-25	SMART
PH	220	330	5.71e-9	SMART
PLDc	459	486	6.6e-6	SMART
low complexity region	503	517	N/A	INTRINSIC
low complexity region	575	589	N/A	INTRINSIC
PLDc	853	880	1.34e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120834
AA Change: A201D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: A201D

Domain	Start	End	E-Value	Type
PX	79	209	7.97e-25	SMART
PH	220	330	5.71e-9	SMART
PLDc	459	486	6.6e-6	SMART
low complexity region	503	517	N/A	INTRINSIC
low complexity region	575	589	N/A	INTRINSIC
PLDc	853	880	1.34e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000123539
AA Change: A201D

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: A201D

Domain	Start	End	E-Value	Type
PX	79	209	7.97e-25	SMART
PH	220	330	5.71e-9	SMART
PLDc	459	486	6.6e-6	SMART
low complexity region	503	517	N/A	INTRINSIC
low complexity region	575	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125338

SMART Domains

Protein: ENSMUSP00000121318
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
Pfam:PX	80	126	5e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000148827
AA Change: A12D

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: A12D

Domain	Start	End	E-Value	Type
PH	32	142	5.71e-9	SMART
PLDc	271	298	6.6e-6	SMART
low complexity region	315	329	N/A	INTRINSIC
low complexity region	387	401	N/A	INTRINSIC
PLDc	665	715	2.5e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a null allele show reduced tumor growth and angiogenesis. Homozygotes for a second null allele show abnormal hepatic autophagy after food restriction. Homozygotes for a third null allele show altered platelet activation and protection from thrombosis and ischemic brain injury. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208		probably null	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,311,362		probably null	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Pld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Pld1	APN	3	28045098	critical splice donor site	probably null
IGL01090:Pld1	APN	3	28088667	missense	probably benign	0.01
IGL01140:Pld1	APN	3	28078237	missense	probably benign	0.01
IGL01646:Pld1	APN	3	28099664	missense	probably damaging	1.00
IGL01830:Pld1	APN	3	28048004	splice site	probably benign
IGL01946:Pld1	APN	3	28124617	missense	probably damaging	1.00
IGL02139:Pld1	APN	3	28120812	missense	probably damaging	0.98
IGL02189:Pld1	APN	3	28120783	missense	probably benign	0.03
IGL02476:Pld1	APN	3	28048039	missense	probably damaging	1.00
IGL02540:Pld1	APN	3	28029160	unclassified	probably benign
IGL02649:Pld1	APN	3	28087229	missense	probably damaging	0.98
IGL02720:Pld1	APN	3	28087262	missense	probably damaging	1.00
IGL02831:Pld1	APN	3	28076425	missense	probably damaging	0.99
IGL02953:Pld1	APN	3	28112247	missense	probably benign	0.03
IGL03005:Pld1	APN	3	28087253	missense	possibly damaging	0.78
IGL03251:Pld1	APN	3	28088665	missense	probably benign	0.06
IGL03331:Pld1	APN	3	28085845	missense	probably damaging	1.00
A9681:Pld1	UTSW	3	28085832	missense	probably benign	0.01
IGL03134:Pld1	UTSW	3	28029167	missense	probably benign	0.01
P0023:Pld1	UTSW	3	28048125	missense	probably damaging	1.00
R0054:Pld1	UTSW	3	28095884	splice site	probably benign
R0054:Pld1	UTSW	3	28095884	splice site	probably benign
R0282:Pld1	UTSW	3	28078273	missense	probably benign
R0372:Pld1	UTSW	3	28088638	splice site	probably null
R0454:Pld1	UTSW	3	28124575	missense	probably damaging	1.00
R0492:Pld1	UTSW	3	28109817	missense	probably damaging	0.96
R0505:Pld1	UTSW	3	28120822	missense	possibly damaging	0.69
R0667:Pld1	UTSW	3	28079178	splice site	probably null
R0678:Pld1	UTSW	3	28120784	missense	probably damaging	0.99
R0980:Pld1	UTSW	3	28124575	missense	probably damaging	1.00
R1200:Pld1	UTSW	3	28049286	missense	probably damaging	1.00
R1235:Pld1	UTSW	3	28028734	missense	probably benign	0.05
R1657:Pld1	UTSW	3	28071187	missense	probably benign	0.04
R1670:Pld1	UTSW	3	28049240	missense	probably benign	0.17
R1705:Pld1	UTSW	3	28071277	critical splice donor site	probably null
R1815:Pld1	UTSW	3	28109768	missense	probably benign	0.04
R2215:Pld1	UTSW	3	28078393	missense	probably benign	0.16
R3435:Pld1	UTSW	3	28124623	missense	probably benign	0.13
R3522:Pld1	UTSW	3	28031247	missense	probably damaging	1.00
R4206:Pld1	UTSW	3	28120783	missense	probably benign	0.03
R4553:Pld1	UTSW	3	28124702	missense	probably benign
R4612:Pld1	UTSW	3	28131733	missense	possibly damaging	0.92
R4623:Pld1	UTSW	3	28029244	missense	probably benign	0.01
R4840:Pld1	UTSW	3	28076551	missense	probably benign	0.10
R4869:Pld1	UTSW	3	28109802	missense	possibly damaging	0.84
R5087:Pld1	UTSW	3	28124582	missense	probably damaging	1.00
R5182:Pld1	UTSW	3	28045081	missense	probably damaging	1.00
R5384:Pld1	UTSW	3	28025320	missense	probably damaging	1.00
R6243:Pld1	UTSW	3	28095805	missense	probably damaging	0.98
R6345:Pld1	UTSW	3	28130747	intron	probably benign
R6692:Pld1	UTSW	3	28041199	missense	probably benign	0.15
R6881:Pld1	UTSW	3	28078414	missense	possibly damaging	0.77
R7197:Pld1	UTSW	3	28024252	missense	probably damaging	1.00
R7267:Pld1	UTSW	3	28076401	missense	probably damaging	1.00
R7284:Pld1	UTSW	3	28131733	missense	possibly damaging	0.92
R7293:Pld1	UTSW	3	28087286	missense	probably damaging	0.99
R7440:Pld1	UTSW	3	28041270	missense	probably benign	0.01
R7524:Pld1	UTSW	3	28024321	missense	possibly damaging	0.77
R7747:Pld1	UTSW	3	28087189	missense	possibly damaging	0.66
R7882:Pld1	UTSW	3	28045009	missense	probably damaging	1.00
R7936:Pld1	UTSW	3	28076502	missense	probably damaging	1.00
R8033:Pld1	UTSW	3	28029210	missense	probably benign	0.02
R8269:Pld1	UTSW	3	28025239	missense	probably benign	0.17
R8316:Pld1	UTSW	3	28024212	missense	probably benign
R8427:Pld1	UTSW	3	28088646	missense	probably damaging	0.97
R8523:Pld1	UTSW	3	28085876	missense	probably damaging	1.00
R8832:Pld1	UTSW	3	28123697	missense
R8850:Pld1	UTSW	3	28112290	missense	possibly damaging	0.88
R9143:Pld1	UTSW	3	28078494	intron	probably benign
R9549:Pld1	UTSW	3	28071232	missense	possibly damaging	0.89
R9648:Pld1	UTSW	3	28120751	missense	probably damaging	0.99
Z1088:Pld1	UTSW	3	28029243	missense	probably benign
Z1176:Pld1	UTSW	3	28076533	missense	probably damaging	1.00
Z1176:Pld1	UTSW	3	28131577	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGCTAACACTCCAAGAGAACAGTG -3'
(R):5'- CGTCATCGTTATAAACTGGATCG -3'

Sequencing Primer
(F):5'- GTGTGCATACTACTTAACGATAGAGC -3'
(R):5'- CGTTATAAACTGGATCGAGACTCTCC -3'

Posted On

2016-05-10