Incidental Mutation 'IGL03409:Pgap3'
ID |
421715 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pgap3
|
Ensembl Gene |
ENSMUSG00000038208 |
Gene Name |
post-GPI attachment to proteins 3 |
Synonyms |
CAB2, Perld1, D430035D22Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.402)
|
Stock # |
IGL03409
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98279503-98291316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98289764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090827]
[ENSMUST00000128897]
|
AlphaFold |
A2A559 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090827
AA Change: T76A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088337 Gene: ENSMUSG00000038208 AA Change: T76A
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: ENSMUST00000125348
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128058
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128897
AA Change: T76A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119668 Gene: ENSMUSG00000038208 AA Change: T76A
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
A |
T |
8: 124,691,762 (GRCm39) |
M401K |
possibly damaging |
Het |
Ablim3 |
T |
A |
18: 61,978,922 (GRCm39) |
H203L |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aox1 |
T |
G |
1: 58,393,588 (GRCm39) |
D1249E |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,353,423 (GRCm39) |
I1116V |
possibly damaging |
Het |
Atad3a |
T |
C |
4: 155,831,807 (GRCm39) |
D489G |
probably damaging |
Het |
Caln1 |
G |
T |
5: 130,646,719 (GRCm39) |
G52C |
probably damaging |
Het |
Clcn7 |
A |
G |
17: 25,374,359 (GRCm39) |
T467A |
probably damaging |
Het |
Col17a1 |
A |
T |
19: 47,654,979 (GRCm39) |
I599N |
possibly damaging |
Het |
Cul2 |
T |
A |
18: 3,429,593 (GRCm39) |
H547Q |
probably damaging |
Het |
Cxcl14 |
T |
C |
13: 56,440,320 (GRCm39) |
T80A |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,581,401 (GRCm39) |
Y407N |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,611,748 (GRCm39) |
I108N |
probably damaging |
Het |
Exoc2 |
T |
C |
13: 31,124,720 (GRCm39) |
|
probably benign |
Het |
Gm1110 |
T |
G |
9: 26,807,916 (GRCm39) |
H290P |
probably benign |
Het |
Gm16223 |
T |
A |
5: 42,225,336 (GRCm39) |
W12R |
unknown |
Het |
Herc2 |
C |
A |
7: 55,878,317 (GRCm39) |
H4623Q |
probably damaging |
Het |
Igkv18-36 |
A |
T |
6: 69,969,589 (GRCm39) |
H68Q |
possibly damaging |
Het |
Kif7 |
T |
C |
7: 79,357,301 (GRCm39) |
E635G |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,388 (GRCm39) |
K226E |
probably benign |
Het |
Or4c109 |
A |
T |
2: 88,817,931 (GRCm39) |
I205N |
possibly damaging |
Het |
Or52z13 |
T |
A |
7: 103,246,574 (GRCm39) |
M17K |
possibly damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,239 (GRCm39) |
N285K |
probably damaging |
Het |
Pam |
C |
A |
1: 97,792,054 (GRCm39) |
A456S |
probably benign |
Het |
Pkd2 |
C |
A |
5: 104,637,215 (GRCm39) |
Y609* |
probably null |
Het |
Plcg2 |
A |
G |
8: 118,310,234 (GRCm39) |
D362G |
probably damaging |
Het |
Polr3h |
C |
A |
15: 81,801,595 (GRCm39) |
A94S |
probably benign |
Het |
Rhod |
T |
C |
19: 4,482,186 (GRCm39) |
D76G |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,320,129 (GRCm39) |
V670A |
probably damaging |
Het |
Rpap3 |
G |
A |
15: 97,579,620 (GRCm39) |
T464M |
possibly damaging |
Het |
Rufy1 |
T |
A |
11: 50,297,310 (GRCm39) |
I381L |
probably benign |
Het |
Slc1a4 |
T |
C |
11: 20,256,506 (GRCm39) |
T442A |
probably damaging |
Het |
Slc9b1 |
T |
C |
3: 135,100,670 (GRCm39) |
S472P |
probably damaging |
Het |
Tmtc3 |
T |
C |
10: 100,287,294 (GRCm39) |
T501A |
possibly damaging |
Het |
Tnpo3 |
C |
A |
6: 29,555,181 (GRCm39) |
D801Y |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,179,193 (GRCm39) |
Y111C |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,127,240 (GRCm39) |
R543* |
probably null |
Het |
Vmn1r74 |
T |
G |
7: 11,581,240 (GRCm39) |
L180R |
probably damaging |
Het |
Vps45 |
T |
G |
3: 95,960,401 (GRCm39) |
E80A |
probably benign |
Het |
Zfp677 |
T |
C |
17: 21,617,107 (GRCm39) |
Y55H |
probably damaging |
Het |
Zng1 |
A |
G |
19: 24,900,130 (GRCm39) |
V289A |
probably benign |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |