Mutagenetix > Incidental Mutation

Incidental Mutation 'R1200:Pld1'

101281

Institutional Source

Beutler Lab

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

MMRRC Submission

039270-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27992844-28187511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28103435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 380 (D380V)

Ref Sequence

ENSEMBL: ENSMUSP00000113810 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067757
AA Change: D380V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: D380V

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: D380V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: D380V

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: D380V

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: D380V

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

unknown
Transcript: ENSMUST00000148827
AA Change: D191V

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: D191V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149017

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.2%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Acat1	T	A	9: 53,494,810 (GRCm39)	I361F	possibly damaging	Het
Akp3	T	A	1: 87,052,982 (GRCm39)	I57N	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Axin2	C	A	11: 108,822,376 (GRCm39)	D309E	probably damaging	Het
Clstn3	G	T	6: 124,436,129 (GRCm39)	P207T	probably damaging	Het
Dip2b	C	A	15: 100,107,626 (GRCm39)	A1212E	probably benign	Het
Dnah5	A	G	15: 28,246,403 (GRCm39)	I580M	possibly damaging	Het
Dpp3	T	C	19: 4,973,157 (GRCm39)	T146A	probably benign	Het
Fam227a	A	G	15: 79,496,738 (GRCm39)	F613S	possibly damaging	Het
Fam83b	T	C	9: 76,399,594 (GRCm39)	D503G	probably damaging	Het
Flot2	C	T	11: 77,945,631 (GRCm39)	T2M	probably damaging	Het
Herc1	T	C	9: 66,393,406 (GRCm39)	L4095S	probably damaging	Het
Kcnh7	T	C	2: 62,607,739 (GRCm39)	Y614C	probably damaging	Het
Lcp1	T	A	14: 75,466,742 (GRCm39)	F616L	possibly damaging	Het
Myh15	T	A	16: 48,916,882 (GRCm39)	Y401N	probably damaging	Het
Neb	T	C	2: 52,057,657 (GRCm39)	Y6144C	probably damaging	Het
Nr1h5	A	G	3: 102,855,178 (GRCm39)	F308L	probably damaging	Het
Ntn5	G	T	7: 45,341,806 (GRCm39)	V309L	possibly damaging	Het
Or51aa2	T	A	7: 103,188,274 (GRCm39)	T56S	probably benign	Het
Or8k21	A	T	2: 86,145,477 (GRCm39)	L51Q	probably damaging	Het
Pex1	G	A	5: 3,656,411 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,326,126 (GRCm39)	Y148H	probably damaging	Het
Ptchd3	T	C	11: 121,722,087 (GRCm39)		probably null	Het
Rnf17	C	T	14: 56,705,163 (GRCm39)	T689I	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Twf1	A	T	15: 94,484,239 (GRCm39)	H94Q	probably benign	Het
Vmn2r13	T	G	5: 109,322,068 (GRCm39)	I210L	probably damaging	Het
Zbtb49	T	C	5: 38,370,675 (GRCm39)	E402G	probably damaging	Het

Other mutations in Pld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Pld1	APN	3	28,099,247 (GRCm39)	critical splice donor site	probably null
IGL01090:Pld1	APN	3	28,142,816 (GRCm39)	missense	probably benign	0.01
IGL01140:Pld1	APN	3	28,132,386 (GRCm39)	missense	probably benign	0.01
IGL01646:Pld1	APN	3	28,153,813 (GRCm39)	missense	probably damaging	1.00
IGL01830:Pld1	APN	3	28,102,153 (GRCm39)	splice site	probably benign
IGL01946:Pld1	APN	3	28,178,766 (GRCm39)	missense	probably damaging	1.00
IGL02139:Pld1	APN	3	28,174,961 (GRCm39)	missense	probably damaging	0.98
IGL02189:Pld1	APN	3	28,174,932 (GRCm39)	missense	probably benign	0.03
IGL02476:Pld1	APN	3	28,102,188 (GRCm39)	missense	probably damaging	1.00
IGL02540:Pld1	APN	3	28,083,309 (GRCm39)	unclassified	probably benign
IGL02649:Pld1	APN	3	28,141,378 (GRCm39)	missense	probably damaging	0.98
IGL02720:Pld1	APN	3	28,141,411 (GRCm39)	missense	probably damaging	1.00
IGL02831:Pld1	APN	3	28,130,574 (GRCm39)	missense	probably damaging	0.99
IGL02953:Pld1	APN	3	28,166,396 (GRCm39)	missense	probably benign	0.03
IGL03005:Pld1	APN	3	28,141,402 (GRCm39)	missense	possibly damaging	0.78
IGL03251:Pld1	APN	3	28,142,814 (GRCm39)	missense	probably benign	0.06
IGL03331:Pld1	APN	3	28,139,994 (GRCm39)	missense	probably damaging	1.00
A9681:Pld1	UTSW	3	28,139,981 (GRCm39)	missense	probably benign	0.01
IGL03134:Pld1	UTSW	3	28,083,316 (GRCm39)	missense	probably benign	0.01
P0023:Pld1	UTSW	3	28,102,274 (GRCm39)	missense	probably damaging	1.00
R0054:Pld1	UTSW	3	28,150,033 (GRCm39)	splice site	probably benign
R0054:Pld1	UTSW	3	28,150,033 (GRCm39)	splice site	probably benign
R0282:Pld1	UTSW	3	28,132,422 (GRCm39)	missense	probably benign
R0372:Pld1	UTSW	3	28,142,787 (GRCm39)	splice site	probably null
R0454:Pld1	UTSW	3	28,178,724 (GRCm39)	missense	probably damaging	1.00
R0492:Pld1	UTSW	3	28,163,966 (GRCm39)	missense	probably damaging	0.96
R0505:Pld1	UTSW	3	28,174,971 (GRCm39)	missense	possibly damaging	0.69
R0667:Pld1	UTSW	3	28,133,327 (GRCm39)	splice site	probably null
R0678:Pld1	UTSW	3	28,174,933 (GRCm39)	missense	probably damaging	0.99
R0980:Pld1	UTSW	3	28,178,724 (GRCm39)	missense	probably damaging	1.00
R1235:Pld1	UTSW	3	28,082,883 (GRCm39)	missense	probably benign	0.05
R1657:Pld1	UTSW	3	28,125,336 (GRCm39)	missense	probably benign	0.04
R1670:Pld1	UTSW	3	28,103,389 (GRCm39)	missense	probably benign	0.17
R1705:Pld1	UTSW	3	28,125,426 (GRCm39)	critical splice donor site	probably null
R1815:Pld1	UTSW	3	28,163,917 (GRCm39)	missense	probably benign	0.04
R2215:Pld1	UTSW	3	28,132,542 (GRCm39)	missense	probably benign	0.16
R3435:Pld1	UTSW	3	28,178,772 (GRCm39)	missense	probably benign	0.13
R3522:Pld1	UTSW	3	28,085,396 (GRCm39)	missense	probably damaging	1.00
R4206:Pld1	UTSW	3	28,174,932 (GRCm39)	missense	probably benign	0.03
R4553:Pld1	UTSW	3	28,178,851 (GRCm39)	missense	probably benign
R4612:Pld1	UTSW	3	28,185,882 (GRCm39)	missense	possibly damaging	0.92
R4623:Pld1	UTSW	3	28,083,393 (GRCm39)	missense	probably benign	0.01
R4840:Pld1	UTSW	3	28,130,700 (GRCm39)	missense	probably benign	0.10
R4869:Pld1	UTSW	3	28,163,951 (GRCm39)	missense	possibly damaging	0.84
R4982:Pld1	UTSW	3	28,085,447 (GRCm39)	missense	probably damaging	0.97
R5087:Pld1	UTSW	3	28,178,731 (GRCm39)	missense	probably damaging	1.00
R5182:Pld1	UTSW	3	28,099,230 (GRCm39)	missense	probably damaging	1.00
R5384:Pld1	UTSW	3	28,079,469 (GRCm39)	missense	probably damaging	1.00
R6243:Pld1	UTSW	3	28,149,954 (GRCm39)	missense	probably damaging	0.98
R6345:Pld1	UTSW	3	28,184,896 (GRCm39)	intron	probably benign
R6692:Pld1	UTSW	3	28,095,348 (GRCm39)	missense	probably benign	0.15
R6881:Pld1	UTSW	3	28,132,563 (GRCm39)	missense	possibly damaging	0.77
R7197:Pld1	UTSW	3	28,078,401 (GRCm39)	missense	probably damaging	1.00
R7267:Pld1	UTSW	3	28,130,550 (GRCm39)	missense	probably damaging	1.00
R7284:Pld1	UTSW	3	28,185,882 (GRCm39)	missense	possibly damaging	0.92
R7293:Pld1	UTSW	3	28,141,435 (GRCm39)	missense	probably damaging	0.99
R7440:Pld1	UTSW	3	28,095,419 (GRCm39)	missense	probably benign	0.01
R7524:Pld1	UTSW	3	28,078,470 (GRCm39)	missense	possibly damaging	0.77
R7747:Pld1	UTSW	3	28,141,338 (GRCm39)	missense	possibly damaging	0.66
R7882:Pld1	UTSW	3	28,099,158 (GRCm39)	missense	probably damaging	1.00
R7936:Pld1	UTSW	3	28,130,651 (GRCm39)	missense	probably damaging	1.00
R8033:Pld1	UTSW	3	28,083,359 (GRCm39)	missense	probably benign	0.02
R8269:Pld1	UTSW	3	28,079,388 (GRCm39)	missense	probably benign	0.17
R8316:Pld1	UTSW	3	28,078,361 (GRCm39)	missense	probably benign
R8427:Pld1	UTSW	3	28,142,795 (GRCm39)	missense	probably damaging	0.97
R8523:Pld1	UTSW	3	28,140,025 (GRCm39)	missense	probably damaging	1.00
R8832:Pld1	UTSW	3	28,177,846 (GRCm39)	missense
R8850:Pld1	UTSW	3	28,166,439 (GRCm39)	missense	possibly damaging	0.88
R9143:Pld1	UTSW	3	28,132,643 (GRCm39)	intron	probably benign
R9549:Pld1	UTSW	3	28,125,381 (GRCm39)	missense	possibly damaging	0.89
R9648:Pld1	UTSW	3	28,174,900 (GRCm39)	missense	probably damaging	0.99
Z1088:Pld1	UTSW	3	28,083,392 (GRCm39)	missense	probably benign
Z1176:Pld1	UTSW	3	28,185,726 (GRCm39)	nonsense	probably null
Z1176:Pld1	UTSW	3	28,130,682 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAATGACGTGTGCTGCTGTCTAAG -3'
(R):5'- AGATGGGTTCACATCCCTGTTGC -3'

Sequencing Primer
(F):5'- GTTTTGCTTGGtttttttttcctg -3'
(R):5'- caggcatggtggctcaag -3'

Posted On

2014-01-15