Mutagenetix > Incidental Mutations

Incidental Mutation 'R6181:Pgap1'

488050

Institutional Source

Beutler Lab

Gene Symbol

Pgap1

Ensembl Gene

ENSMUSG00000073678

Gene Name

post-GPI attachment to proteins 1

Synonyms

PGAP1, D230012E17Rik, oto, 5033403E17Rik, 9030223K07Rik

MMRRC Submission

044323-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54472994-54557684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54512777 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 499 (G499R)

Ref Sequence

ENSEMBL: ENSMUSP00000095346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097739]

Predicted Effect

probably benign
Transcript: ENSMUST00000097739
AA Change: G499R

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678
AA Change: G499R

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:PGAP1	82	302	7.2e-83	PFAM
transmembrane domain	597	619	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
transmembrane domain	737	759	N/A	INTRINSIC
transmembrane domain	819	838	N/A	INTRINSIC
low complexity region	854	866	N/A	INTRINSIC
low complexity region	871	884	N/A	INTRINSIC
transmembrane domain	902	921	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,488,055	E384G	probably damaging	Het
Akr1b7	A	G	6: 34,415,378	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,548,877	H369L	probably benign	Het
Ano7	T	C	1: 93,395,359	S474P	probably damaging	Het
Aox3	T	C	1: 58,158,946	V639A	probably benign	Het
Arhgef2	T	A	3: 88,635,620	V358E	probably damaging	Het
BC017158	A	G	7: 128,297,460		probably null	Het
Brpf3	A	G	17: 28,810,581	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331	T120A	probably damaging	Het
Clasp1	T	G	1: 118,419,817	S32A	probably benign	Het
Clca2	A	T	3: 145,090,708	L246*	probably null	Het
Clcn7	A	G	17: 25,151,728	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,933,744	D322E	probably benign	Het
Cmtm4	A	C	8: 104,356,365		probably null	Het
Cntnap2	C	T	6: 46,759,808	P723S	probably damaging	Het
Col6a3	T	A	1: 90,816,374	T84S	possibly damaging	Het
Corin	A	G	5: 72,372,096		probably null	Het
Cubn	G	A	2: 13,349,876	T1903I	probably benign	Het
Cyp27b1	A	C	10: 127,050,410	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,485,620	K652R	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock1	T	A	7: 135,158,522	M1638K	probably damaging	Het
Eya1	T	C	1: 14,302,872	S8G	probably damaging	Het
Fam193a	T	A	5: 34,443,540		probably null	Het
Fam208a	T	A	14: 27,472,278	M1145K	probably benign	Het
Fbxw11	T	A	11: 32,742,575	N515K	probably benign	Het
Gm11639	T	C	11: 104,831,333	S1924P	probably benign	Het
Gm13083	T	A	4: 143,616,258		probably null	Het
Gm609	A	G	16: 45,417,897	S185P	probably benign	Het
Gm6408	T	C	5: 146,483,772	V154A	possibly damaging	Het
Guf1	A	G	5: 69,561,716	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,823,232	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,340,984	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,501,975	D61V	probably damaging	Het
Lrp5	T	C	19: 3,628,427	D476G	probably damaging	Het
Luzp1	A	G	4: 136,543,267	T934A	probably benign	Het
Mboat7	A	T	7: 3,683,885	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,112,584	R12G	probably benign	Het
Micall2	T	A	5: 139,716,751	T246S	probably benign	Het
Npepps	A	G	11: 97,242,004	V299A	probably damaging	Het
Olfr1381	T	A	11: 49,552,293	V182D	probably damaging	Het
P2ry13	A	G	3: 59,209,907	V150A	probably benign	Het
Pdc	T	C	1: 150,333,270	I168T	probably damaging	Het
Pde8b	C	T	13: 95,086,808	E313K	probably benign	Het
Ppp1r15b	T	A	1: 133,132,523	C259*	probably null	Het
Ptgs1	A	G	2: 36,251,119	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,699,999	L271P	probably damaging	Het
Rbm47	T	C	5: 66,026,490	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,647,520	D104N	probably damaging	Het
Rhobtb3	A	G	13: 75,910,689	I330T	probably benign	Het
Rnf207	T	C	4: 152,308,848	T570A	probably benign	Het
Sbpl	T	C	17: 23,953,492	H151R	probably damaging	Het
Sstr3	T	C	15: 78,539,461	D362G	probably benign	Het
St7	T	C	6: 17,694,364		probably null	Het
Tdrd6	A	G	17: 43,628,897	V420A	probably damaging	Het
Tet2	C	A	3: 133,487,759	E305*	probably null	Het
Tmem209	A	T	6: 30,505,971	V68E	probably damaging	Het
Tmod4	A	T	3: 95,127,807	I208F	probably damaging	Het
Tpo	G	A	12: 30,131,885	L4F	probably benign	Het
Urb1	T	C	16: 90,779,094	H858R	probably benign	Het
Utrn	A	G	10: 12,739,456	W324R	probably damaging	Het
V1rd19	T	A	7: 24,003,215	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,606,267	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,187,282	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,073,757	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,583,864	A459T	probably benign	Het
Vwf	G	T	6: 125,566,146	A132S	probably damaging	Het
Zfp202	G	A	9: 40,207,342	G17E	probably damaging	Het
Zfp608	A	G	18: 54,895,628	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,257,142	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,587,941	G246S	probably damaging	Het
Zwint	T	C	10: 72,656,599	V115A	probably benign	Het

Other mutations in Pgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Pgap1	APN	1	54492021	splice site	probably benign
IGL01111:Pgap1	APN	1	54530943	missense	probably benign	0.17
IGL01406:Pgap1	APN	1	54533414	splice site	probably null
IGL01592:Pgap1	APN	1	54521311	missense	probably damaging	1.00
IGL02005:Pgap1	APN	1	54551055	missense	probably damaging	0.99
IGL02026:Pgap1	APN	1	54494819	missense	probably benign	0.05
IGL02086:Pgap1	APN	1	54547988	missense	probably damaging	1.00
IGL02354:Pgap1	APN	1	54512816	missense	probably benign	0.02
IGL02361:Pgap1	APN	1	54512816	missense	probably benign	0.02
IGL02995:Pgap1	APN	1	54493350	missense	probably benign	0.19
IGL03012:Pgap1	APN	1	54533413	splice site	probably benign
R0044:Pgap1	UTSW	1	54493368	missense	probably damaging	1.00
R0109:Pgap1	UTSW	1	54494825	missense	probably damaging	1.00
R0109:Pgap1	UTSW	1	54494825	missense	probably damaging	1.00
R0241:Pgap1	UTSW	1	54535951	splice site	probably null
R0241:Pgap1	UTSW	1	54535951	splice site	probably null
R0352:Pgap1	UTSW	1	54486458	splice site	probably benign
R1297:Pgap1	UTSW	1	54528523	missense	possibly damaging	0.94
R1429:Pgap1	UTSW	1	54494861	missense	probably benign	0.01
R1465:Pgap1	UTSW	1	54528555	missense	probably benign	0.11
R1465:Pgap1	UTSW	1	54528555	missense	probably benign	0.11
R1542:Pgap1	UTSW	1	54492090	missense	probably benign	0.16
R1816:Pgap1	UTSW	1	54492057	missense	probably damaging	0.99
R1817:Pgap1	UTSW	1	54535969	missense	probably benign	0.15
R1905:Pgap1	UTSW	1	54511961	missense	probably benign	0.26
R2006:Pgap1	UTSW	1	54551061	missense	possibly damaging	0.76
R3551:Pgap1	UTSW	1	54530143	missense	possibly damaging	0.89
R3833:Pgap1	UTSW	1	54557465	missense	probably damaging	0.99
R3901:Pgap1	UTSW	1	54493348	missense	probably benign
R4487:Pgap1	UTSW	1	54528592	missense	probably benign	0.26
R4874:Pgap1	UTSW	1	54530137	missense	probably damaging	0.96
R5184:Pgap1	UTSW	1	54481856	missense	probably damaging	1.00
R6212:Pgap1	UTSW	1	54514893	missense	probably damaging	0.99
R6269:Pgap1	UTSW	1	54548008	nonsense	probably null
R6525:Pgap1	UTSW	1	54481889	missense	probably benign	0.00
R6944:Pgap1	UTSW	1	54530161	missense	probably damaging	1.00
R7214:Pgap1	UTSW	1	54543061	missense	possibly damaging	0.47
R7256:Pgap1	UTSW	1	54493207	critical splice donor site	probably null
R7290:Pgap1	UTSW	1	54548066	missense	possibly damaging	0.45
R7356:Pgap1	UTSW	1	54530134	missense	probably benign	0.10
R7525:Pgap1	UTSW	1	54530922	missense	probably benign	0.26
R7602:Pgap1	UTSW	1	54543186	missense	probably damaging	1.00
R7897:Pgap1	UTSW	1	54551008	missense	probably damaging	1.00
R8278:Pgap1	UTSW	1	54490271	missense	probably benign
X0025:Pgap1	UTSW	1	54481870	missense	probably benign	0.26
X0060:Pgap1	UTSW	1	54536034	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGCTGACCACGTTGAC -3'
(R):5'- CTTCAGTCTCAGCTTGCACTGG -3'

Sequencing Primer
(F):5'- GCTGACCACGTTGACTTTAAAAGC -3'
(R):5'- AGCTTGCACTGGCCCTC -3'

Posted On

2017-10-10