Mutagenetix > Incidental Mutations

Incidental Mutation 'R7659:Gpld1'

591460

Institutional Source

Beutler Lab

Gene Symbol

Gpld1

Ensembl Gene

ENSMUSG00000021340

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

Synonyms

6330541J12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24943152-24992501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24979981 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 555 (R555S)

Ref Sequence

ENSEMBL: ENSMUSP00000021773 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021773
AA Change: R555S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: R555S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,568,960	E498G	probably damaging	Het
Ankar	T	C	1: 72,690,135	T284A	possibly damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp6v0a4	A	G	6: 38,071,972	I452T	probably damaging	Het
Azgp1	G	T	5: 137,987,513	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,074,719	S667P	unknown	Het
C1qtnf9	T	A	14: 60,772,304	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,830,619	T199P	unknown	Het
Casc3	C	G	11: 98,809,873	R4G	unknown	Het
Cass4	A	G	2: 172,427,027	D343G	probably damaging	Het
Ccdc84	T	C	9: 44,413,493	E164G	probably damaging	Het
Col6a3	T	A	1: 90,781,745	T2517S	unknown	Het
Dbr1	A	G	9: 99,576,610	T78A	probably damaging	Het
Dnah9	A	G	11: 65,989,780	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,889,462	I431T	probably damaging	Het
Got1	A	G	19: 43,504,639	V281A	probably benign	Het
Gpr149	T	C	3: 62,603,835	R248G	probably benign	Het
Hps3	G	A	3: 20,022,814	R395*	probably null	Het
Inpp5b	T	C	4: 124,795,426	L833P	probably damaging	Het
Itgb4	A	T	11: 115,979,731	S129C	probably damaging	Het
Kif1a	T	A	1: 93,046,820		probably benign	Het
Lgr4	T	A	2: 109,996,766	V205E	probably damaging	Het
Mbd3	T	C	10: 80,395,185	N96S	probably damaging	Het
Mcam	T	A	9: 44,136,770	C136S	unknown	Het
Mki67	A	G	7: 135,697,426	S1960P	probably damaging	Het
Mogs	G	A	6: 83,116,825		probably null	Het
Muc6	T	C	7: 141,637,060	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Nae1	A	G	8: 104,516,164	V432A	probably benign	Het
Nav3	T	G	10: 109,766,990	T1233P	probably benign	Het
Nme9	G	A	9: 99,470,857	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,636,135	I8V	probably benign	Het
Noa1	T	C	5: 77,309,390	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269	Y8H	probably damaging	Het
Olfr1112	T	A	2: 87,192,365	V226E	possibly damaging	Het
Olfr1181	T	C	2: 88,423,926	Y33C	probably damaging	Het
Olfr124	A	T	17: 37,805,163	Q6L	probably benign	Het
Olfr25	T	C	9: 38,329,716	V40A	possibly damaging	Het
Olfr344	T	A	2: 36,568,625	V9E	possibly damaging	Het
Olfr649	T	C	7: 104,190,187	S7G	probably benign	Het
Olfr733	T	C	14: 50,299,241	I23V	probably benign	Het
Olfr847	C	T	9: 19,375,558	A108T	probably benign	Het
Otoa	T	A	7: 121,134,044	H711Q	probably benign	Het
Otogl	T	A	10: 107,777,120	E2048D	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pcdha3	A	G	18: 36,948,166	T654A	probably benign	Het
Pigg	G	A	5: 108,338,619	V713I	probably benign	Het
Ppt1	T	A	4: 122,836,333	H26Q	probably benign	Het
Prim1	T	C	10: 128,026,589		probably null	Het
Prmt7	G	T	8: 106,237,286	A271S	probably benign	Het
Ptprd	T	C	4: 76,128,916	D124G	probably benign	Het
Rad54l2	T	C	9: 106,713,578	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,401,827	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,375,966		probably null	Het
Siglecf	A	G	7: 43,351,770	Y54C	probably damaging	Het
Stk31	T	A	6: 49,423,406	N388K	probably benign	Het
Timm23	A	C	14: 32,198,978	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,636,335	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,893,009	A592E	probably damaging	Het
Trim30d	A	T	7: 104,472,347	V397E	probably benign	Het
Tshz1	A	T	18: 84,016,075	N69K	probably damaging	Het
Upk2	A	C	9: 44,453,511	S130R	probably damaging	Het
Vmn1r80	A	G	7: 12,193,050	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,573,487	I31T	probably benign	Het
Zfp975	T	C	7: 42,662,424	Q255R	probably benign	Het

Other mutations in Gpld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Gpld1	APN	13	24986922	splice site	probably benign
IGL00886:Gpld1	APN	13	24962353	nonsense	probably null
IGL01060:Gpld1	APN	13	24982566	missense	probably damaging	1.00
IGL01450:Gpld1	APN	13	24979681	missense	probably damaging	1.00
IGL02176:Gpld1	APN	13	24984209	critical splice donor site	probably null
IGL02288:Gpld1	APN	13	24979683	nonsense	probably null
IGL02323:Gpld1	APN	13	24982774	missense	probably damaging	0.97
IGL02588:Gpld1	APN	13	24943699	missense	probably damaging	1.00
IGL02832:Gpld1	APN	13	24952878	missense	probably damaging	1.00
IGL02989:Gpld1	APN	13	24990036	missense	possibly damaging	0.87
IGL03282:Gpld1	APN	13	24971408	missense	probably benign	0.01
IGL03345:Gpld1	APN	13	24987024	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	24990118	missense	probably damaging	1.00
R0017:Gpld1	UTSW	13	24990118	missense	probably damaging	1.00
R0308:Gpld1	UTSW	13	24962835	missense	possibly damaging	0.81
R0441:Gpld1	UTSW	13	24962320	nonsense	probably null
R1172:Gpld1	UTSW	13	24957566	splice site	probably null
R1411:Gpld1	UTSW	13	24962808	missense	probably damaging	0.99
R1502:Gpld1	UTSW	13	24971416	missense	probably benign	0.00
R1565:Gpld1	UTSW	13	24956068	missense	probably damaging	0.99
R1931:Gpld1	UTSW	13	24943710	missense	possibly damaging	0.71
R1999:Gpld1	UTSW	13	24962647	missense	probably benign	0.23
R2150:Gpld1	UTSW	13	24962647	missense	probably benign	0.23
R2240:Gpld1	UTSW	13	24982507	critical splice acceptor site	probably null
R2327:Gpld1	UTSW	13	24984821	missense	probably benign	0.00
R2373:Gpld1	UTSW	13	24962856	missense	probably benign	0.26
R3153:Gpld1	UTSW	13	24943620	missense	unknown
R3154:Gpld1	UTSW	13	24943620	missense	unknown
R3154:Gpld1	UTSW	13	24956163	critical splice donor site	probably null
R3911:Gpld1	UTSW	13	24962322	missense	probably damaging	1.00
R4616:Gpld1	UTSW	13	24984816	missense	probably damaging	1.00
R4660:Gpld1	UTSW	13	24982603	splice site	probably null
R4755:Gpld1	UTSW	13	24979688	missense	probably benign	0.13
R4755:Gpld1	UTSW	13	24979692	nonsense	probably null
R4835:Gpld1	UTSW	13	24982716	missense	probably benign	0.00
R4895:Gpld1	UTSW	13	24979728	missense	probably damaging	0.97
R5050:Gpld1	UTSW	13	24962756	missense	probably benign	0.00
R5182:Gpld1	UTSW	13	24984070	splice site	probably null
R6161:Gpld1	UTSW	13	24971414	missense	probably benign	0.00
R6626:Gpld1	UTSW	13	24979970	missense	probably damaging	1.00
R7021:Gpld1	UTSW	13	24984708	missense	probably damaging	1.00
R7577:Gpld1	UTSW	13	24962405	missense	probably benign	0.05
R7583:Gpld1	UTSW	13	24975760	missense	probably damaging	1.00
R7737:Gpld1	UTSW	13	24975726	missense	probably damaging	1.00
R7738:Gpld1	UTSW	13	24962322	missense	probably damaging	1.00
R7752:Gpld1	UTSW	13	24962775	missense	probably damaging	1.00
R7759:Gpld1	UTSW	13	24962400	missense	probably damaging	0.99
R7901:Gpld1	UTSW	13	24962775	missense	probably damaging	1.00
X0024:Gpld1	UTSW	13	24982596	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGCTTGTGCTGTCCCATC -3'
(R):5'- TGTGGACCAATAAACCAGGTGG -3'

Sequencing Primer
(F):5'- GCTGTCCCATCTTCCTCCTAAGG -3'
(R):5'- TGAACTCAGGTTGTCAGCCATAGC -3'

Posted On

2019-11-12