Mutagenetix > Incidental Mutation

Incidental Mutation 'R9143:Pld1'

723587

Institutional Source

Beutler Lab

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27992844-28187511 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 28132643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067757

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695

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 benign
Transcript: ENSMUST00000120834

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695

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 benign
Transcript: ENSMUST00000123539

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695

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: ENSMUST00000148827

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	C	17: 48,452,605 (GRCm39)	I111M	probably damaging	Het
Arid2	A	G	15: 96,259,715 (GRCm39)	I292V	probably damaging	Het
Atl3	T	C	19: 7,509,408 (GRCm39)	S379P	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccnt1	G	A	15: 98,441,688 (GRCm39)	H527Y	probably damaging	Het
Ces1d	T	A	8: 93,912,707 (GRCm39)	I244F	probably damaging	Het
Clec16a	C	A	16: 10,428,964 (GRCm39)	S449R	probably damaging	Het
Cngb3	T	A	4: 19,375,190 (GRCm39)		probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,337,276 (GRCm39)		probably benign	Het
Dsp	C	A	13: 38,377,337 (GRCm39)	S1707R	probably benign	Het
E330034G19Rik	A	T	14: 24,347,004 (GRCm39)	Q162L	possibly damaging	Het
F830045P16Rik	T	C	2: 129,316,502 (GRCm39)	N69S	probably benign	Het
Galnt10	C	T	11: 57,612,146 (GRCm39)	T62I	probably benign	Het
Gm19668	T	C	10: 77,634,960 (GRCm39)	D3G	unknown	Het
Hace1	T	A	10: 45,562,764 (GRCm39)	F760I	probably damaging	Het
Il20rb	A	G	9: 100,356,936 (GRCm39)	Y65H	probably damaging	Het
Insl5	C	A	4: 102,883,841 (GRCm39)	V27L	probably benign	Het
Jade2	T	C	11: 51,715,930 (GRCm39)	D425G	probably benign	Het
Lipg	T	C	18: 75,087,272 (GRCm39)	K183R	probably benign	Het
Lrrc59	T	A	11: 94,525,456 (GRCm39)	L84Q	probably damaging	Het
Lyst	T	A	13: 13,835,750 (GRCm39)	F1811I	probably damaging	Het
Mcf2l	A	G	8: 13,062,883 (GRCm39)		probably benign	Het
Nfil3	A	G	13: 53,121,792 (GRCm39)	S371P	probably benign	Het
Nin	A	G	12: 70,137,349 (GRCm39)	S76P		Het
Nuak1	C	T	10: 84,213,951 (GRCm39)		probably null	Het
Or8b47	A	T	9: 38,427,917 (GRCm39)		probably benign	Het
Or8g19	A	T	9: 39,055,722 (GRCm39)	I109F	possibly damaging	Het
Rcvrn	T	C	11: 67,590,890 (GRCm39)	F158S	possibly damaging	Het
Skap2	T	C	6: 51,885,409 (GRCm39)	T200A	probably benign	Het
Slc6a1	G	T	6: 114,292,503 (GRCm39)		probably benign	Het
Spag17	C	T	3: 99,934,906 (GRCm39)	T704M	probably benign	Het
Stxbp1	A	G	2: 32,688,157 (GRCm39)	S503P	probably damaging	Het
Susd5	A	T	9: 113,924,879 (GRCm39)	E254V	possibly damaging	Het
Sv2a	T	C	3: 96,097,983 (GRCm39)	S529P	possibly damaging	Het
Tigd2	T	A	6: 59,188,310 (GRCm39)	N392K	probably benign	Het
Tmem131l	A	G	3: 83,842,220 (GRCm39)	L525P	probably benign	Het
Tonsl	T	C	15: 76,514,824 (GRCm39)	M1127V	probably damaging	Het
Top2a	T	A	11: 98,900,705 (GRCm39)	E585V	probably benign	Het
Usp19	T	G	9: 108,375,398 (GRCm39)	L847R	probably damaging	Het
Vta1	T	C	10: 14,551,776 (GRCm39)	H141R	possibly damaging	Het
Zfp950	G	T	19: 61,108,778 (GRCm39)	P102T	probably benign	Het
Zzz3	T	C	3: 152,163,908 (GRCm39)	I869T	probably benign	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
R1200:Pld1	UTSW	3	28,103,435 (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
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'- TAGGAAAGTCCAGGAAATTCTCC -3'
(R):5'- GCCATCAAAAGTATCAACAGTGG -3'

Sequencing Primer
(F):5'- CAAATTTAGTCTCTATCGCCAGCTG -3'
(R):5'- CCCAATAGGTAGAGTGCTTGC -3'

Posted On

2022-08-31