Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Pgap3'

645318

Institutional Source

Beutler Lab

Gene Symbol

Pgap3

Ensembl Gene

ENSMUSG00000038208

Gene Name

post-GPI attachment to proteins 3

Synonyms

CAB2, Perld1, D430035D22Rik

MMRRC Submission

067867-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R8347 (G1)

Quality Score

109.467

Status

Not validated

Chromosome

Chromosomal Location

98279503-98291316 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TCAGCAGCAGCAGCAGCAG to TCAGCAGCAGCAGCAG at 98281575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041301] [ENSMUST00000090827] [ENSMUST00000128897]

AlphaFold

A2A559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000041218

Predicted Effect

probably benign
Transcript: ENSMUST00000041301

SMART Domains

Protein: ENSMUSP00000035549
Gene: ENSMUSG00000038216

Domain	Start	End	E-Value	Type
Pfam:NNMT_PNMT_TEMT	25	290	1.2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090827

SMART Domains

Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Per1	54	306	6.3e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128058

Predicted Effect

probably benign
Transcript: ENSMUST00000128897

SMART Domains

Protein: ENSMUSP00000119668
Gene: ENSMUSG00000038208

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Per1	51	96	6.2e-14	PFAM
Pfam:Per1	93	256	7.3e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal head and tail morphology, growth retardation, limb glasping, altered T cell proliferation response and increased susceptibility to EAE. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,561,153 (GRCm39)	I170L	probably benign	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Ankib1	A	G	5: 3,797,065 (GRCm39)	L249P	probably damaging	Het
Cabin1	A	G	10: 75,578,201 (GRCm39)	F499L	probably damaging	Het
Cdhr17	G	A	5: 17,006,572 (GRCm39)	M96I	probably benign	Het
Clec12b	C	T	6: 129,357,450 (GRCm39)		probably null	Het
Col23a1	G	A	11: 51,462,083 (GRCm39)	G373D	probably damaging	Het
Cse1l	C	T	2: 166,769,505 (GRCm39)	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,932,251 (GRCm39)	L330*	probably null	Het
Dbi	A	C	1: 120,048,550 (GRCm39)	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,065,025 (GRCm39)	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,812 (GRCm39)	M379I	possibly damaging	Het
Dpys	T	C	15: 39,720,709 (GRCm39)	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578 (GRCm39)	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,695,888 (GRCm39)	K457E	probably damaging	Het
Efs	A	G	14: 55,157,241 (GRCm39)	C357R	probably benign	Het
Egfr	T	A	11: 16,828,174 (GRCm39)	W516R	probably damaging	Het
Folh1	T	A	7: 86,378,326 (GRCm39)	R529*	probably null	Het
Fsip2	A	C	2: 82,818,198 (GRCm39)	I4644L	probably benign	Het
Garnl3	T	C	2: 32,975,903 (GRCm39)	Y66C	probably damaging	Het
Gli3	T	C	13: 15,898,110 (GRCm39)	L730P	probably damaging	Het
Gm19668	T	C	10: 77,634,221 (GRCm39)	*249W	probably null	Het
Ighv2-6-8	T	C	12: 113,759,947 (GRCm39)	D54G	probably benign	Het
Irs2	C	A	8: 11,058,000 (GRCm39)	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,761,048 (GRCm39)	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,648,575 (GRCm39)	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,759,507 (GRCm39)	Y69N	unknown	Het
Lcn12	A	C	2: 25,382,045 (GRCm39)	D176E	possibly damaging	Het
Lilrb4b	T	A	10: 51,357,850 (GRCm39)	F181L	probably damaging	Het
Med13l	T	A	5: 118,880,662 (GRCm39)	H1251Q	probably benign	Het
Nppb	C	A	4: 148,070,756 (GRCm39)	L44M	probably damaging	Het
Nutm2	T	C	13: 50,626,373 (GRCm39)	V320A	probably benign	Het
Or4b1b	A	T	2: 90,112,020 (GRCm39)	W300R	probably benign	Het
Or52a24	A	G	7: 103,381,150 (GRCm39)	S6G	probably benign	Het
Or5ae2	C	T	7: 84,505,963 (GRCm39)	P131S	probably damaging	Het
Or5ak4	T	A	2: 85,162,047 (GRCm39)	H65L	probably damaging	Het
Padi6	T	C	4: 140,462,719 (GRCm39)	M301V	probably benign	Het
Pappa	G	A	4: 65,245,302 (GRCm39)	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,034,277 (GRCm39)	D255N	possibly damaging	Het
Phip	A	G	9: 82,790,816 (GRCm39)	I710T	probably benign	Het
Pla2r1	A	T	2: 60,365,247 (GRCm39)	Y108N	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Rint1	C	G	5: 24,016,770 (GRCm39)	L512V	probably damaging	Het
Sdad1	A	C	5: 92,446,088 (GRCm39)	F282L	probably benign	Het
Sirt5	G	T	13: 43,533,977 (GRCm39)	A189S	probably benign	Het
Slc14a1	T	C	18: 78,154,646 (GRCm39)	T247A	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slfn3	A	G	11: 83,104,415 (GRCm39)	K429E	possibly damaging	Het
Spag17	T	C	3: 99,934,957 (GRCm39)	F721S	probably benign	Het
Spata31d1e	T	A	13: 59,890,050 (GRCm39)	D590V	possibly damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Sult2a6	A	G	7: 13,959,883 (GRCm39)	Y217H	probably benign	Het
Synj2	A	G	17: 6,060,060 (GRCm39)	N394S	probably damaging	Het
Telo2	A	T	17: 25,323,611 (GRCm39)	Y605*	probably null	Het
Trank1	T	A	9: 111,196,317 (GRCm39)	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,141,446 (GRCm39)	L690P	probably damaging	Het
Trmt13	T	C	3: 116,376,417 (GRCm39)	T325A	probably benign	Het
Ttn	T	A	2: 76,539,811 (GRCm39)	T34392S	probably benign	Het
Uncx	A	G	5: 139,532,571 (GRCm39)	E212G	probably damaging	Het
Ush2a	A	G	1: 188,679,281 (GRCm39)	T4830A	probably benign	Het
Usp34	C	A	11: 23,362,345 (GRCm39)	T1616N		Het
Vars1	C	T	17: 35,234,953 (GRCm39)	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,020 (GRCm39)	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,917,423 (GRCm39)	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,064,838 (GRCm39)	M16K	probably benign	Het
Wdr62	G	A	7: 29,962,128 (GRCm39)	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,053,374 (GRCm39)	L129Q	probably benign	Het
Zfp423	T	C	8: 88,509,784 (GRCm39)	R187G	probably damaging	Het
Zfp853	A	T	5: 143,274,702 (GRCm39)	L321Q	unknown	Het

Other mutations in Pgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Pgap3	APN	11	98,288,780 (GRCm39)	missense	probably damaging	1.00
IGL03409:Pgap3	APN	11	98,289,764 (GRCm39)	missense	possibly damaging	0.95
R0053:Pgap3	UTSW	11	98,281,924 (GRCm39)	missense	probably benign	0.16
R0053:Pgap3	UTSW	11	98,281,924 (GRCm39)	missense	probably benign	0.16
R1185:Pgap3	UTSW	11	98,281,960 (GRCm39)	missense	probably damaging	1.00
R1185:Pgap3	UTSW	11	98,281,960 (GRCm39)	missense	probably damaging	1.00
R1185:Pgap3	UTSW	11	98,281,960 (GRCm39)	missense	probably damaging	1.00
R1579:Pgap3	UTSW	11	98,280,879 (GRCm39)	missense	probably benign
R1938:Pgap3	UTSW	11	98,291,040 (GRCm39)	critical splice donor site	probably null
R2117:Pgap3	UTSW	11	98,281,933 (GRCm39)	missense	probably damaging	0.99
R2367:Pgap3	UTSW	11	98,281,985 (GRCm39)	splice site	probably null
R3854:Pgap3	UTSW	11	98,281,638 (GRCm39)	missense	possibly damaging	0.49
R4820:Pgap3	UTSW	11	98,281,300 (GRCm39)	missense	probably damaging	1.00
R5208:Pgap3	UTSW	11	98,288,874 (GRCm39)	missense	probably damaging	1.00
R5493:Pgap3	UTSW	11	98,281,540 (GRCm39)	missense	possibly damaging	0.87
R5783:Pgap3	UTSW	11	98,281,290 (GRCm39)	missense	probably benign
R7722:Pgap3	UTSW	11	98,281,610 (GRCm39)	missense	probably benign	0.00
R7943:Pgap3	UTSW	11	98,281,227 (GRCm39)	missense	probably damaging	1.00
R8878:Pgap3	UTSW	11	98,281,924 (GRCm39)	missense	probably benign	0.16
R8888:Pgap3	UTSW	11	98,281,602 (GRCm39)	missense	possibly damaging	0.73
R8895:Pgap3	UTSW	11	98,281,602 (GRCm39)	missense	possibly damaging	0.73
R9466:Pgap3	UTSW	11	98,289,796 (GRCm39)	missense	probably benign	0.01
R9531:Pgap3	UTSW	11	98,288,823 (GRCm39)	missense	probably damaging	1.00
X0026:Pgap3	UTSW	11	98,281,305 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GAGATTTACTCACTGGATCTTCCC -3'
(R):5'- TCTGAACCAGCTGACTTGGTG -3'

Sequencing Primer
(F):5'- GGATCTTCCCCTGGACTCTGG -3'
(R):5'- CAGCTGACTTGGTGGGCTAG -3'

Posted On

2020-09-02