Mutagenetix > Incidental Mutation

Incidental Mutation 'R4660:Gpld1'

352795

Institutional Source

Beutler Lab

Gene Symbol

Gpld1

Ensembl Gene

ENSMUSG00000021340

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

Synonyms

6330541J12Rik

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25127135-25175919 bp(+) (GRCm39)

Type of Mutation

splice site (4880 bp from exon)

DNA Base Change (assembly)

T to C at 25166586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021772] [ENSMUST00000021773]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000021772

SMART Domains

Protein: ENSMUSP00000021772
Gene: ENSMUSG00000021339

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	292	306	N/A	INTRINSIC
coiled coil region	323	359	N/A	INTRINSIC
transmembrane domain	374	396	N/A	INTRINSIC
transmembrane domain	409	426	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021773
AA Change: I639T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: I639T

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

Meta Mutation Damage Score

0.3926

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,062 (GRCm39)	T343A	probably damaging	Het
Angptl4	A	T	17: 33,996,249 (GRCm39)		probably benign	Het
Antxr2	A	T	5: 98,151,913 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,966,760 (GRCm39)	V145E	probably damaging	Het
Asns	G	T	6: 7,678,012 (GRCm39)	N355K	probably benign	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
B4galt7	T	A	13: 55,752,111 (GRCm39)	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777 (GRCm39)	P415S	probably benign	Het
Bbs9	G	A	9: 22,490,063 (GRCm39)	R278Q	probably benign	Het
Blzf1	C	T	1: 164,134,062 (GRCm39)		probably benign	Het
Btd	A	T	14: 31,389,760 (GRCm39)	T494S	probably benign	Het
Casp9	C	T	4: 141,540,934 (GRCm39)	T434I	probably benign	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Ccnk	C	T	12: 108,168,575 (GRCm39)		probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip1	G	A	5: 123,717,437 (GRCm39)	T1284I	probably damaging	Het
Coch	T	C	12: 51,642,268 (GRCm39)	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,536 (GRCm39)	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,083,579 (GRCm39)	R457K	probably benign	Het
Dalrd3	T	C	9: 108,447,568 (GRCm39)	S129P	probably benign	Het
Ddx10	A	G	9: 53,147,698 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,328,696 (GRCm39)	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eif2s2	G	A	2: 154,730,189 (GRCm39)	T36I	probably benign	Het
Fam118b	A	T	9: 35,146,551 (GRCm39)	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,408,377 (GRCm39)	I250N	probably damaging	Het
Gm11544	C	T	11: 94,736,306 (GRCm39)		noncoding transcript	Het
Gm5709	C	T	3: 59,526,124 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,707,980 (GRCm39)	I107N	probably damaging	Het
Grik1	T	A	16: 87,720,019 (GRCm39)	T768S	probably damaging	Het
H2-T23	T	G	17: 36,341,108 (GRCm39)	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,710 (GRCm39)		probably benign	Het
Iqgap3	T	G	3: 88,027,483 (GRCm39)	L702R	probably damaging	Het
Itga8	A	G	2: 12,270,069 (GRCm39)	V139A	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,594,772 (GRCm39)	I353V	probably benign	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Lingo4	T	A	3: 94,310,672 (GRCm39)	S537T	probably benign	Het
Lipo3	C	T	19: 33,598,360 (GRCm39)		probably benign	Het
Lrrc3	G	T	10: 77,729,866 (GRCm39)		probably benign	Het
Ltbp3	T	A	19: 5,798,814 (GRCm39)		probably null	Het
Lyg1	T	A	1: 37,985,942 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mfsd8	T	A	3: 40,776,372 (GRCm39)	I427F	probably benign	Het
Mga	T	A	2: 119,769,104 (GRCm39)		probably benign	Het
Miga1	A	G	3: 151,993,155 (GRCm39)	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536 (GRCm39)	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,336,538 (GRCm39)	V510A	probably benign	Het
Nccrp1	G	T	7: 28,245,760 (GRCm39)	P135T	probably damaging	Het
Neb	T	A	2: 52,145,600 (GRCm39)	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,710,011 (GRCm39)	I171N	probably damaging	Het
Odad2	A	G	18: 7,211,609 (GRCm39)	V755A	possibly damaging	Het
Or10q3	T	C	19: 11,848,412 (GRCm39)	H56R	possibly damaging	Het
Or12j5	A	T	7: 140,083,933 (GRCm39)	F146L	probably benign	Het
Or13a19	T	C	7: 139,903,325 (GRCm39)	F238L	possibly damaging	Het
Otop1	T	G	5: 38,457,368 (GRCm39)	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,322,932 (GRCm39)	V10A	possibly damaging	Het
Pgs1	T	C	11: 117,910,503 (GRCm39)	V538A	probably damaging	Het
Ppa2	A	T	3: 133,032,445 (GRCm39)	T97S	probably damaging	Het
Pramel22	T	A	4: 143,380,847 (GRCm39)	Y392F	probably benign	Het
Pramel26	A	G	4: 143,538,435 (GRCm39)	S179P	probably benign	Het
Prdm10	G	A	9: 31,238,624 (GRCm39)	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,508,464 (GRCm39)	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,158,796 (GRCm39)	R55C	probably damaging	Het
Ptpn9	A	T	9: 56,943,782 (GRCm39)	T105S	probably benign	Het
Rundc1	T	A	11: 101,324,830 (GRCm39)	V512E	possibly damaging	Het
Scrib	G	A	15: 75,937,185 (GRCm39)	S307L	probably damaging	Het
Sec23ip	A	G	7: 128,352,010 (GRCm39)	S26G	probably null	Het
Sec61a2	A	G	2: 5,878,504 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,877,511 (GRCm39)	V206A	probably damaging	Het
Sgk2	C	T	2: 162,839,763 (GRCm39)	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,738,540 (GRCm39)	T592I	probably damaging	Het
Slc5a11	T	C	7: 122,864,486 (GRCm39)	Y361H	probably damaging	Het
Smc6	T	C	12: 11,324,008 (GRCm39)	V51A	probably damaging	Het
Stab1	A	T	14: 30,876,872 (GRCm39)	N817K	possibly damaging	Het
Swt1	A	T	1: 151,283,348 (GRCm39)	D336E	probably benign	Het
Taf13	T	A	3: 108,480,293 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,175,845 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,156 (GRCm39)	S209P	probably benign	Het
Try10	A	G	6: 41,334,761 (GRCm39)	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,788,714 (GRCm39)	Y183*	probably null	Het
Ttc17	A	T	2: 94,194,774 (GRCm39)	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,535,016 (GRCm39)	P305L	probably damaging	Het
Tulp3	G	A	6: 128,300,017 (GRCm39)		probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505 (GRCm39)	V453A	probably damaging	Het
Vmn2r103	A	T	17: 20,032,077 (GRCm39)	N617I	probably damaging	Het
Xirp1	G	T	9: 119,846,058 (GRCm39)	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,676,451 (GRCm39)	V731G	probably benign	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp639	T	C	3: 32,574,679 (GRCm39)	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,355,820 (GRCm39)	H443R	probably damaging	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
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
R4895:Gpld1	UTSW	13	25,163,711 (GRCm39)	missense	probably damaging	0.97
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'- CAATGCTGGCAGTTCAGGAC -3'
(R):5'- CAACCAGCAGGACTTGGGTTAG -3'

Sequencing Primer
(F):5'- CTACATAGTAGGGTGAGGCTCC -3'
(R):5'- GGGTTAGGGTCCCATTCACTC -3'

Posted On

2015-10-08