Mutagenetix > Incidental Mutations

Incidental Mutation 'R4612:Pld1'

344797

Institutional Source

Beutler Lab

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

MMRRC Submission

041823-MU

Accession Numbers

Genbank: NM_001164056; MGI: 109585

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4612 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

27938695-28133362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28131733 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1036 (T1036A)

Ref Sequence

ENSEMBL: ENSMUSP00000113810 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067757
AA Change: T1036A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: T1036A

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

possibly damaging
Transcript: ENSMUST00000120834
AA Change: T1036A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: T1036A

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: T1074A

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: T1074A

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: ENSMUST00000126594

SMART Domains

Protein: ENSMUSP00000121569
Gene: ENSMUSG00000027695

Domain	Start	End	E-Value	Type
PLDc	74	101	1.34e-6	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: T870A

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,925,476	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,377,980	M1K	probably null	Het
Abca15	A	G	7: 120,335,161	D120G	probably benign	Het
Adam26a	A	T	8: 43,568,793	N553K	probably damaging	Het
Adam32	A	T	8: 24,872,736	C558S	probably damaging	Het
Adam39	A	T	8: 40,825,921	S450C	probably damaging	Het
Agap2	A	T	10: 127,080,096	T159S	unknown	Het
Ahnak	G	A	19: 9,003,724	V791I	probably benign	Het
Ak7	T	G	12: 105,761,513	L468R	probably damaging	Het
Akap12	A	G	10: 4,354,456	D422G	probably damaging	Het
Antxr1	T	A	6: 87,288,173	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,259,479	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,241,563	E322D	probably benign	Het
Atg4b	T	C	1: 93,786,541	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,612	K127R	probably damaging	Het
Atxn1l	C	T	8: 109,732,104	V509M	possibly damaging	Het
B3glct	T	A	5: 149,739,557	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,996,585	P70L	probably damaging	Het
Bok	T	A	1: 93,694,178	F157L	probably damaging	Het
Bves	G	A	10: 45,339,277	G16D	probably benign	Het
Cacna1b	T	A	2: 24,626,852	K65*	probably null	Het
Casc3	A	G	11: 98,822,958	T339A	probably benign	Het
Ccdc18	C	T	5: 108,135,441	S6L	probably benign	Het
Cd86	A	G	16: 36,615,330	Y242H	probably benign	Het
Chd3	A	C	11: 69,353,209	Y1249*	probably null	Het
Chrne	T	C	11: 70,617,022	T284A	probably damaging	Het
Col12a1	T	C	9: 79,616,057	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,678,474	M72K	probably benign	Het
Csmd1	G	T	8: 15,921,908		probably null	Het
Det1	A	T	7: 78,843,706	N183K	probably damaging	Het
Dis3	C	A	14: 99,091,435	V294L	probably benign	Het
Dnah2	G	A	11: 69,483,367	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dsg4	T	A	18: 20,462,413	S558T	probably benign	Het
Dzip3	A	T	16: 48,952,040	L422*	probably null	Het
Elp6	T	C	9: 110,314,019	F100S	probably damaging	Het
Epg5	C	T	18: 77,982,414	T1224I	possibly damaging	Het
F830016B08Rik	T	A	18: 60,301,015	I390N	probably benign	Het
Fam110c	A	G	12: 31,074,656	T206A	unknown	Het
Fam160a1	G	A	3: 85,730,372	R207*	probably null	Het
Fam187b	G	A	7: 30,977,093	G9D	possibly damaging	Het
Fat1	A	G	8: 45,025,147	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,238,559	F390Y	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Flcn	T	C	11: 59,792,687	T555A	probably damaging	Het
Foxq1	G	T	13: 31,558,825		probably benign	Het
Gm3233	A	T	10: 77,759,664		probably benign	Het
Gm5346	A	T	8: 43,626,550	F212L	probably benign	Het
Gm7271	A	T	5: 76,516,498	N145Y	probably damaging	Het
Gprc5a	G	A	6: 135,078,929	V125I	probably damaging	Het
Gria2	T	C	3: 80,732,051	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,579,584	A103T	probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,539,575	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,772,597	E188*	probably null	Het
Ifna13	T	G	4: 88,643,876	E170D	probably damaging	Het
Il4ra	A	G	7: 125,576,083	T488A	probably benign	Het
Jup	G	T	11: 100,381,834	H251N	probably damaging	Het
Kif21a	A	T	15: 90,968,223		probably null	Het
Klhl28	T	A	12: 64,957,260	I160L	probably damaging	Het
Klk5	A	T	7: 43,845,272	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,812,643	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,462,783	I844M	probably damaging	Het
Lrp2	C	T	2: 69,458,427	W3698*	probably null	Het
Lyar	T	A	5: 38,224,709	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,815,300	K1507E	probably benign	Het
Mre11a	G	A	9: 14,802,903	G267R	probably damaging	Het
Mthfd1l	A	G	10: 4,030,717	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,349	E29V	probably benign	Het
Neb	T	C	2: 52,287,243	D1362G	probably damaging	Het
Nme2	T	C	11: 93,955,602	T7A	possibly damaging	Het
Nod2	T	A	8: 88,665,036	L657Q	possibly damaging	Het
Nrm	T	A	17: 35,863,529	V75E	probably benign	Het
Ogfod1	A	C	8: 94,037,347	K20T	possibly damaging	Het
Olfr197	T	C	16: 59,186,311	I57M	probably damaging	Het
Olfr294	T	A	7: 86,615,736	Q303L	probably benign	Het
Olfr63	T	A	17: 33,269,480	V252E	probably benign	Het
Omp	T	C	7: 98,145,141	N93S	probably damaging	Het
Pcdhb15	A	C	18: 37,475,595	T627P	probably damaging	Het
Pogk	C	A	1: 166,398,765	E606*	probably null	Het
Ppp1r10	T	A	17: 35,927,931	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,632,079	C339R	possibly damaging	Het
Psd	T	A	19: 46,313,339	D937V	probably benign	Het
Rbak	T	C	5: 143,174,467	Q277R	probably benign	Het
Sbno1	T	A	5: 124,404,024	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,750,502	Q201*	probably null	Het
Serpinb3a	T	C	1: 107,047,607	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,101,406	N306K	probably damaging	Het
Smarca2	C	A	19: 26,776,225	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,447,495	Q530K	probably damaging	Het
Stard10	C	A	7: 101,345,670	Q278K	possibly damaging	Het
Tgm2	C	T	2: 158,124,204	C510Y	probably benign	Het
Tlr9	C	T	9: 106,223,807	P99L	probably damaging	Het
Tmco4	T	C	4: 138,990,560	W4R	probably benign	Het
Tmem151a	T	A	19: 5,071,834		probably benign	Het
Tmem255b	T	C	8: 13,454,228	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,534,016		probably benign	Het
Trpm2	T	C	10: 77,945,916	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,419,005	E120K	possibly damaging	Het
Ttc29	A	G	8: 78,325,546	D352G	probably benign	Het
Usp25	A	T	16: 77,033,945	I30F	possibly damaging	Het
Usp34	A	C	11: 23,432,268	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,063,022	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,166,870	T157K	probably benign	Het
Vstm5	A	T	9: 15,257,493	I118F	probably benign	Het
Vwa7	T	C	17: 35,023,450	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,397,063	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,018,948	N408Y	probably benign	Het
Zswim5	C	T	4: 116,986,704	H980Y	probably damaging	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
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
R4982:Pld1	UTSW	3	28031298	missense	probably damaging	0.97
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
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'- ATCTTAACAGGTCTTCCGGTGC -3'
(R):5'- CCAGTGTCCTTATATCAGGGTGAC -3'

Sequencing Primer
(F):5'- ATTTAATCCAGCTGCGGGAC -3'
(R):5'- GGTGACCACTGCCACAC -3'

Posted On

2015-09-25