Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02953:Pld1'

364999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02953

Quality Score

Status

Chromosome

Chromosomal Location

27992844-28187511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28166396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 812 (M812L)

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 benign
Transcript: ENSMUST00000067757
AA Change: M812L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: M812L

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
AA Change: M812L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: M812L

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: M850L

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: M850L

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: ENSMUST00000126594
AA Change: M32L

SMART Domains

Protein: ENSMUSP00000121569
Gene: ENSMUSG00000027695
AA Change: M32L

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

Predicted Effect

unknown
Transcript: ENSMUST00000148827
AA Change: M623L

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: M623L

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	G	16: 88,570,534 (GRCm39)	S169P	possibly damaging	Het
Adap2	G	A	11: 80,045,126 (GRCm39)	G29R	probably damaging	Het
Adcy2	A	T	13: 68,877,447 (GRCm39)	I431N	probably damaging	Het
Amer3	T	C	1: 34,626,877 (GRCm39)	V372A	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Atp6v0b	A	T	4: 117,742,419 (GRCm39)	V111E	probably damaging	Het
Cep20	T	C	16: 14,122,339 (GRCm39)	K142E	probably benign	Het
Clmp	T	A	9: 40,685,683 (GRCm39)	L193Q	probably damaging	Het
Dcaf7	T	G	11: 105,942,702 (GRCm39)	Y216*	probably null	Het
Dcbld2	T	A	16: 58,272,100 (GRCm39)	D385E	probably benign	Het
Des	T	A	1: 75,340,288 (GRCm39)	D398E	possibly damaging	Het
Fancm	C	T	12: 65,168,740 (GRCm39)	T1701I	probably benign	Het
Fat1	C	A	8: 45,477,351 (GRCm39)	D2132E	probably damaging	Het
Fkbp14	T	C	6: 54,556,667 (GRCm39)	K161R	probably damaging	Het
Fuca2	C	T	10: 13,383,173 (GRCm39)		probably benign	Het
Habp2	T	A	19: 56,302,664 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Herc3	C	T	6: 58,834,718 (GRCm39)	Q242*	probably null	Het
Igkv4-81	T	C	6: 68,967,981 (GRCm39)	K40R	probably benign	Het
Irf5	C	A	6: 29,536,671 (GRCm39)	H461N	possibly damaging	Het
Lypd11	C	T	7: 24,422,991 (GRCm39)	C109Y	probably damaging	Het
Nav2	G	A	7: 49,198,171 (GRCm39)	V1267M	probably damaging	Het
Nlk	A	G	11: 78,517,527 (GRCm39)	V155A	probably benign	Het
Nup214	C	T	2: 31,878,241 (GRCm39)	H303Y	possibly damaging	Het
Rab11fip3	C	A	17: 26,286,653 (GRCm39)	R500L	possibly damaging	Het
Secisbp2l	C	T	2: 125,602,194 (GRCm39)	E389K	probably benign	Het
Serpina3a	C	T	12: 104,082,748 (GRCm39)	R174C	probably benign	Het
Spef2	T	C	15: 9,713,329 (GRCm39)	R405G	possibly damaging	Het
Srpx	A	T	X: 9,983,706 (GRCm39)		probably benign	Het
St18	T	A	1: 6,914,337 (GRCm39)		probably benign	Het
Tcerg1	C	T	18: 42,681,535 (GRCm39)	P561S	probably damaging	Het
Topbp1	T	A	9: 103,205,634 (GRCm39)	N757K	probably benign	Het
Trrap	G	T	5: 144,752,774 (GRCm39)	L1782F	probably damaging	Het
Tut1	G	T	19: 8,940,056 (GRCm39)	V347L	probably damaging	Het
Txnip	T	A	3: 96,465,682 (GRCm39)	V44D	probably damaging	Het
Usp8	C	T	2: 126,579,857 (GRCm39)	T369I	probably benign	Het
Zzef1	A	G	11: 72,746,224 (GRCm39)	N842S	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
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
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

Posted On

2015-12-18