Mutagenetix > Incidental Mutation

Incidental Mutation 'R3435:Pld1'

267147

Institutional Source

Beutler Lab

Gene Symbol

Pld1

Ensembl Gene

ENSMUSG00000027695

Gene Name

phospholipase D1

Synonyms

Pld1a, Pld1b

MMRRC Submission

040653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27992844-28187511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28178772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 889 (M889L)

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: M889L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064694
Gene: ENSMUSG00000027695
AA Change: M889L

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: M889L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113810
Gene: ENSMUSG00000027695
AA Change: M889L

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: M927L

SMART Domains

Protein: ENSMUSP00000118727
Gene: ENSMUSG00000027695
AA Change: M927L

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: M109L

SMART Domains

Protein: ENSMUSP00000121569
Gene: ENSMUSG00000027695
AA Change: M109L

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

Predicted Effect

unknown
Transcript: ENSMUST00000148827
AA Change: M723L

SMART Domains

Protein: ENSMUSP00000120273
Gene: ENSMUSG00000027695
AA Change: M723L

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

0.0698

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (33/33)

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
4933409G03Rik	A	C	2: 68,432,189 (GRCm39)	D91A	unknown	Het
Abca9	T	C	11: 110,045,256 (GRCm39)	E359G	probably benign	Het
Atp7a	G	A	X: 105,138,463 (GRCm39)	R563K	probably benign	Het
Dnah1	T	C	14: 31,038,631 (GRCm39)	D150G	probably damaging	Het
Fam47e	T	A	5: 92,733,221 (GRCm39)	V152D	probably damaging	Het
Gm19965	C	A	1: 116,749,353 (GRCm39)	H345N	possibly damaging	Het
Ift74	A	G	4: 94,510,089 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,001,911 (GRCm39)	I384V	probably benign	Het
Lrrc57	T	A	2: 120,439,862 (GRCm39)		probably benign	Het
Mafk	C	T	5: 139,786,062 (GRCm39)	Q87*	probably null	Het
Mast2	A	T	4: 116,165,292 (GRCm39)	S1314T	probably benign	Het
Mast4	A	G	13: 102,923,887 (GRCm39)	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726 (GRCm39)		probably null	Het
Mup6	G	T	4: 60,004,116 (GRCm39)		probably null	Het
Neurl1a	T	C	19: 47,245,964 (GRCm39)	V532A	probably damaging	Het
Nod2	A	G	8: 89,390,637 (GRCm39)	R293G	possibly damaging	Het
Notch3	A	T	17: 32,377,592 (GRCm39)	D161E	possibly damaging	Het
Or1j1	T	A	2: 36,702,690 (GRCm39)	Q138L	probably benign	Het
Osbpl3	A	T	6: 50,325,050 (GRCm39)	N149K	possibly damaging	Het
P2rx4	T	A	5: 122,863,133 (GRCm39)	I202K	probably damaging	Het
Pbxip1	T	C	3: 89,354,543 (GRCm39)	L354P	probably damaging	Het
Ppp2r2b	T	A	18: 42,874,174 (GRCm39)	Q52L	possibly damaging	Het
Prob1	T	C	18: 35,787,294 (GRCm39)	E320G	possibly damaging	Het
Stard13	A	T	5: 150,965,644 (GRCm39)	L937Q	probably damaging	Het
Strn4	T	C	7: 16,571,558 (GRCm39)	S563P	possibly damaging	Het
Syne1	T	C	10: 5,298,565 (GRCm39)	D1114G	probably damaging	Het
Tmem117	T	C	15: 94,992,573 (GRCm39)	I411T	probably damaging	Het
Tmx3	T	A	18: 90,546,028 (GRCm39)	V203E	probably damaging	Het
Ttn	T	C	2: 76,709,062 (GRCm39)		probably benign	Het
Vmn1r209	A	T	13: 22,990,267 (GRCm39)	M141K	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
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'- GGTACCAATCACCTTGCTCC -3'
(R):5'- TCTAGCATGGTAGAGGAGCC -3'

Sequencing Primer
(F):5'- CATTCCAATGGCTGGCCTAGAATG -3'
(R):5'- GCCAAGGGTGAAGGTAACC -3'

Posted On

2015-02-18