Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Gpld1'

700045

Institutional Source

Beutler Lab

Gene Symbol

Gpld1

Ensembl Gene

ENSMUSG00000021340

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

Synonyms

6330541J12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25127135-25175919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25136900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 73 (S73C)

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: S73C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: S73C

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: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	probably benign	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
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
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'- AACAGTTACCCTTGCCTGCC -3'
(R):5'- AAGTCATCGGTGAACACTTTTACAG -3'

Sequencing Primer
(F):5'- TTTCCTTCATCTGTTTATGTCTGGTG -3'
(R):5'- GTTATGAGTCACCCAACATGGCTG -3'

Posted On

2022-02-07