Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Gpld1'

377589

Institutional Source

Beutler Lab

Gene Symbol

Gpld1

Ensembl Gene

ENSMUSG00000021340

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

Synonyms

6330541J12Rik

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25127135-25175919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25163711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 501 (N501K)

Ref Sequence

ENSEMBL: ENSMUSP00000021773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021773]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021773
AA Change: N501K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: N501K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Zn_dep_PLPC	28	219	9.8e-28	PFAM
Int_alpha	377	435	7.21e-11	SMART
Int_alpha	446	503	7.43e-13	SMART
Int_alpha	509	565	7.86e-3	SMART
Int_alpha	576	643	4.09e0	SMART
Blast:Int_alpha	644	708	2e-24	BLAST
Int_alpha	716	774	1.86e-4	SMART
Blast:Int_alpha	789	837	1e-16	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143010
AA Change: N56K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120943
Gene: ENSMUSG00000021340
AA Change: N56K

Domain	Start	End	E-Value	Type
Int_alpha	1	58	7.43e-13	SMART
Int_alpha	64	117	2.31e0	SMART

Meta Mutation Damage Score

0.1916

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,454,990 (GRCm39)		probably benign	Het
Abat	G	A	16: 8,433,826 (GRCm39)	A392T	probably benign	Het
Abca14	G	A	7: 119,846,572 (GRCm39)		probably null	Het
Abcc6	A	T	7: 45,630,414 (GRCm39)	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,392,401 (GRCm39)		probably benign	Het
Adgrf1	G	T	17: 43,621,511 (GRCm39)	V583L	probably benign	Het
Aftph	T	C	11: 20,646,801 (GRCm39)	D825G	probably damaging	Het
Ahnak	T	C	19: 8,994,805 (GRCm39)	V5363A	probably benign	Het
Apba3	G	A	10: 81,107,117 (GRCm39)		probably null	Het
Asb13	T	C	13: 3,693,589 (GRCm39)	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266 (GRCm39)	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,256,289 (GRCm39)	H223Q	probably benign	Het
Best1	A	G	19: 9,970,135 (GRCm39)	L159P	probably benign	Het
Cacna1h	A	T	17: 25,608,396 (GRCm39)	M731K	probably damaging	Het
Catspere1	T	A	1: 177,687,427 (GRCm39)		noncoding transcript	Het
Cenpv	A	T	11: 62,418,346 (GRCm39)	Y202*	probably null	Het
Cep57	A	T	9: 13,727,449 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,084 (GRCm39)	D363V	possibly damaging	Het
Cluh	A	G	11: 74,558,231 (GRCm39)	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,551,347 (GRCm39)		probably null	Het
Dnajc11	T	C	4: 152,064,390 (GRCm39)	F514L	probably damaging	Het
Efcab3	C	T	11: 104,611,112 (GRCm39)	T318I	probably benign	Het
Efcab3	T	A	11: 105,008,227 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,640,496 (GRCm39)	D1026G	probably damaging	Het
Eif2b4	T	G	5: 31,350,298 (GRCm39)	Q8P	probably benign	Het
Epha6	A	T	16: 59,486,918 (GRCm39)	V1043E	probably benign	Het
Gm11562	G	T	11: 99,511,141 (GRCm39)	Q20K	unknown	Het
Gm14415	A	T	2: 176,796,114 (GRCm39)		noncoding transcript	Het
Gm5431	A	G	11: 48,779,855 (GRCm39)	S634P	probably damaging	Het
Gsn	C	T	2: 35,192,590 (GRCm39)	R513C	probably damaging	Het
Gulp1	T	C	1: 44,827,757 (GRCm39)	F300L	probably benign	Het
H2aj	T	C	6: 136,785,660 (GRCm39)	V108A	possibly damaging	Het
Haus3	T	C	5: 34,325,414 (GRCm39)	R82G	probably benign	Het
Herc2	G	A	7: 55,872,734 (GRCm39)	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,553,130 (GRCm39)	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,171,014 (GRCm39)	I53V	probably benign	Het
Inpp5e	C	T	2: 26,287,924 (GRCm39)	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367 (GRCm39)	C491*	probably null	Het
Itpkb	C	A	1: 180,241,460 (GRCm39)	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,905,784 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,742,368 (GRCm39)		probably benign	Het
Lamb3	C	T	1: 193,014,622 (GRCm39)	R594*	probably null	Het
Map3k20	A	G	2: 72,232,700 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,624,472 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Nbeal1	A	G	1: 60,332,062 (GRCm39)	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,397,618 (GRCm39)	Y61H	probably damaging	Het
Npat	T	A	9: 53,481,789 (GRCm39)	L1166M	probably damaging	Het
Or12e1	A	C	2: 87,022,192 (GRCm39)	I54L	probably benign	Het
Or4c108	A	T	2: 88,804,055 (GRCm39)	F60Y	probably benign	Het
Or5ak20	A	T	2: 85,183,341 (GRCm39)	*310K	probably null	Het
Or5b97	C	T	19: 12,878,251 (GRCm39)	V298M	probably damaging	Het
Or5h22	C	T	16: 58,895,020 (GRCm39)	C141Y	probably benign	Het
Or5p66	A	C	7: 107,885,802 (GRCm39)	I177S	probably damaging	Het
Pcdhb3	T	C	18: 37,434,759 (GRCm39)	F242L	probably damaging	Het
Phip	A	G	9: 82,841,648 (GRCm39)	V57A	probably benign	Het
Plekha7	A	T	7: 115,788,626 (GRCm39)		probably null	Het
Pot1a	A	C	6: 25,753,205 (GRCm39)	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,831,126 (GRCm39)	P217L	probably damaging	Het
Prepl	A	G	17: 85,388,494 (GRCm39)	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,759,513 (GRCm39)	I175V	probably benign	Het
Ranbp6	A	T	19: 29,787,175 (GRCm39)	I1059N	possibly damaging	Het
Rhag	A	G	17: 41,122,242 (GRCm39)	Q59R	probably benign	Het
Sema4c	A	C	1: 36,592,651 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,542,656 (GRCm39)	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,019,220 (GRCm39)		probably null	Het
Tbrg1	A	T	9: 37,566,375 (GRCm39)	I54N	probably damaging	Het
Tchh	A	T	3: 93,352,993 (GRCm39)	E811V	unknown	Het
Tenm3	T	A	8: 48,754,006 (GRCm39)	D799V	probably damaging	Het
Tlr5	T	C	1: 182,801,764 (GRCm39)	L342P	probably damaging	Het
Tppp	C	T	13: 74,178,996 (GRCm39)	R146*	probably null	Het
Trpm4	A	T	7: 44,967,482 (GRCm39)	M574K	probably damaging	Het
Uggt1	A	T	1: 36,195,345 (GRCm39)	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,256,298 (GRCm39)	K1124N	probably damaging	Het
Usf3	A	C	16: 44,041,459 (GRCm39)	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,208,973 (GRCm39)	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,167,182 (GRCm39)	H650N	probably benign	Het
Vmn2r59	T	A	7: 41,695,218 (GRCm39)	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,187,396 (GRCm39)	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,910,892 (GRCm39)	R235*	probably null	Het

Other mutations in Gpld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gpld1	APN	13	25,170,905 (GRCm39)	splice site	probably benign
IGL00886:Gpld1	APN	13	25,146,336 (GRCm39)	nonsense	probably null
IGL01060:Gpld1	APN	13	25,166,549 (GRCm39)	missense	probably damaging	1.00
IGL01450:Gpld1	APN	13	25,163,664 (GRCm39)	missense	probably damaging	1.00
IGL02176:Gpld1	APN	13	25,168,192 (GRCm39)	critical splice donor site	probably null
IGL02288:Gpld1	APN	13	25,163,666 (GRCm39)	nonsense	probably null
IGL02323:Gpld1	APN	13	25,166,757 (GRCm39)	missense	probably damaging	0.97
IGL02588:Gpld1	APN	13	25,127,682 (GRCm39)	missense	probably damaging	1.00
IGL02832:Gpld1	APN	13	25,136,861 (GRCm39)	missense	probably damaging	1.00
IGL02989:Gpld1	APN	13	25,174,019 (GRCm39)	missense	possibly damaging	0.87
IGL03282:Gpld1	APN	13	25,155,391 (GRCm39)	missense	probably benign	0.01
IGL03345:Gpld1	APN	13	25,171,007 (GRCm39)	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	25,174,101 (GRCm39)	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	25,174,101 (GRCm39)	missense	probably damaging	1.00
R0308:Gpld1	UTSW	13	25,146,818 (GRCm39)	missense	possibly damaging	0.81
R0441:Gpld1	UTSW	13	25,146,303 (GRCm39)	nonsense	probably null
R1172:Gpld1	UTSW	13	25,141,549 (GRCm39)	splice site	probably null
R1411:Gpld1	UTSW	13	25,146,791 (GRCm39)	missense	probably damaging	0.99
R1502:Gpld1	UTSW	13	25,155,399 (GRCm39)	missense	probably benign	0.00
R1565:Gpld1	UTSW	13	25,140,051 (GRCm39)	missense	probably damaging	0.99
R1931:Gpld1	UTSW	13	25,127,693 (GRCm39)	missense	possibly damaging	0.71
R1999:Gpld1	UTSW	13	25,146,630 (GRCm39)	missense	probably benign	0.23
R2150:Gpld1	UTSW	13	25,146,630 (GRCm39)	missense	probably benign	0.23
R2240:Gpld1	UTSW	13	25,166,490 (GRCm39)	critical splice acceptor site	probably null
R2327:Gpld1	UTSW	13	25,168,804 (GRCm39)	missense	probably benign	0.00
R2373:Gpld1	UTSW	13	25,146,839 (GRCm39)	missense	probably benign	0.26
R3153:Gpld1	UTSW	13	25,127,603 (GRCm39)	missense	unknown
R3154:Gpld1	UTSW	13	25,127,603 (GRCm39)	missense	unknown
R3154:Gpld1	UTSW	13	25,140,146 (GRCm39)	critical splice donor site	probably null
R3911:Gpld1	UTSW	13	25,146,305 (GRCm39)	missense	probably damaging	1.00
R4616:Gpld1	UTSW	13	25,168,799 (GRCm39)	missense	probably damaging	1.00
R4660:Gpld1	UTSW	13	25,166,586 (GRCm39)	splice site	probably null
R4755:Gpld1	UTSW	13	25,163,675 (GRCm39)	nonsense	probably null
R4755:Gpld1	UTSW	13	25,163,671 (GRCm39)	missense	probably benign	0.13
R4835:Gpld1	UTSW	13	25,166,699 (GRCm39)	missense	probably benign	0.00
R5050:Gpld1	UTSW	13	25,146,739 (GRCm39)	missense	probably benign	0.00
R5182:Gpld1	UTSW	13	25,168,053 (GRCm39)	splice site	probably null
R6161:Gpld1	UTSW	13	25,155,397 (GRCm39)	missense	probably benign	0.00
R6626:Gpld1	UTSW	13	25,163,953 (GRCm39)	missense	probably damaging	1.00
R7021:Gpld1	UTSW	13	25,168,691 (GRCm39)	missense	probably damaging	1.00
R7577:Gpld1	UTSW	13	25,146,388 (GRCm39)	missense	probably benign	0.05
R7583:Gpld1	UTSW	13	25,159,743 (GRCm39)	missense	probably damaging	1.00
R7659:Gpld1	UTSW	13	25,163,964 (GRCm39)	missense	probably benign	0.00
R7737:Gpld1	UTSW	13	25,159,709 (GRCm39)	missense	probably damaging	1.00
R7738:Gpld1	UTSW	13	25,146,305 (GRCm39)	missense	probably damaging	1.00
R7752:Gpld1	UTSW	13	25,146,758 (GRCm39)	missense	probably damaging	1.00
R7759:Gpld1	UTSW	13	25,146,383 (GRCm39)	missense	probably damaging	0.99
R7901:Gpld1	UTSW	13	25,146,758 (GRCm39)	missense	probably damaging	1.00
R8855:Gpld1	UTSW	13	25,170,890 (GRCm39)	missense	probably benign	0.00
R8866:Gpld1	UTSW	13	25,170,890 (GRCm39)	missense	probably benign	0.00
R9150:Gpld1	UTSW	13	25,146,305 (GRCm39)	missense	probably damaging	1.00
R9228:Gpld1	UTSW	13	25,136,900 (GRCm39)	missense	probably damaging	1.00
R9359:Gpld1	UTSW	13	25,163,712 (GRCm39)	missense	probably benign	0.00
R9403:Gpld1	UTSW	13	25,163,712 (GRCm39)	missense	probably benign	0.00
X0024:Gpld1	UTSW	13	25,166,579 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCAGTTTCCAGACTGTG -3'
(R):5'- AGGTGGCCACAATTCCTCTC -3'

Sequencing Primer
(F):5'- GCCAGTTTCCAGACTGTGTTTCTG -3'
(R):5'- AGCTGATGACCAGATCGTGC -3'

Posted On

2016-03-17