Incidental Mutation 'R9531:Pgap3'
| ID |
719490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap3
|
| Ensembl Gene |
ENSMUSG00000038208 |
| Gene Name |
post-GPI attachment to proteins 3 |
| Synonyms |
CAB2, Perld1, D430035D22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
R9531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98279503-98291316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98288823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 111
(S111P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090827]
[ENSMUST00000128897]
|
| AlphaFold |
A2A559 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090827
AA Change: S111P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208
AA Change: S111P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Per1
|
54 |
306 |
6.3e-96 |
PFAM |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
T |
A |
9: 119,260,392 (GRCm39) |
D354E |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,537,875 (GRCm39) |
S369R |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,180,802 (GRCm39) |
M977T |
probably damaging |
Het |
| Bin1 |
A |
T |
18: 32,510,539 (GRCm39) |
E27V |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,320,801 (GRCm39) |
F1586L |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,436,562 (GRCm39) |
S473T |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,858,489 (GRCm39) |
M151T |
|
Het |
| Dhodh |
T |
C |
8: 110,321,623 (GRCm39) |
T300A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,294,818 (GRCm39) |
M1V |
probably null |
Het |
| Ezh1 |
G |
A |
11: 101,104,657 (GRCm39) |
T130M |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,887,692 (GRCm39) |
D109G |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,075 (GRCm39) |
*1204R |
probably null |
Het |
| Itpkb |
T |
G |
1: 180,161,374 (GRCm39) |
V500G |
probably benign |
Het |
| Jakmip1 |
C |
A |
5: 37,332,407 (GRCm39) |
T1029N |
probably damaging |
Het |
| Kdsr |
T |
C |
1: 106,667,063 (GRCm39) |
K231E |
probably damaging |
Het |
| Klb |
G |
A |
5: 65,540,948 (GRCm39) |
V1014I |
|
Het |
| Kng2 |
A |
G |
16: 22,830,907 (GRCm39) |
I134T |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,235,598 (GRCm39) |
S470G |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,321 (GRCm39) |
V825A |
probably damaging |
Het |
| Mfap3l |
C |
G |
8: 61,109,787 (GRCm39) |
D54E |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,240,731 (GRCm39) |
M1474V |
possibly damaging |
Het |
| Mrpl15 |
T |
C |
1: 4,847,757 (GRCm39) |
R181G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,692,307 (GRCm39) |
V377A |
probably benign |
Het |
| Or5b121 |
T |
C |
19: 13,507,936 (GRCm39) |
F344L |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,235,236 (GRCm39) |
T787M |
possibly damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,841,926 (GRCm39) |
K777T |
|
Het |
| Pkd1 |
C |
T |
17: 24,792,114 (GRCm39) |
T1267I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,007,063 (GRCm39) |
D835G |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,099,154 (GRCm39) |
I634N |
probably damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,997 (GRCm39) |
I274N |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,028,424 (GRCm39) |
D334G |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,183,105 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttc24 |
A |
G |
3: 87,978,416 (GRCm39) |
S252P |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,135,217 (GRCm39) |
T850A |
probably benign |
Het |
| Zbbx |
A |
G |
3: 74,985,865 (GRCm39) |
S396P |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,088,837 (GRCm39) |
I478N |
probably damaging |
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 |
|
R8347:Pgap3
|
UTSW |
11 |
98,281,575 (GRCm39) |
small deletion |
probably benign |
|
|
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 |
|
X0026:Pgap3
|
UTSW |
11 |
98,281,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAGATGCCCATCTCTGG -3'
(R):5'- AAAGACTCTCATCTTAACCAGGGAC -3'
Sequencing Primer
(F):5'- CATCTCTGGGGATGGAAGGGC -3'
(R):5'- GGACTTCTGGAGAGATACCCATTAAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation