Incidental Mutation 'IGL01942:Pgap3'
ID |
180894 |
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 # |
IGL01942
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98279503-98291316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98288780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 125
(Y125C)
|
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: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088337 Gene: ENSMUSG00000038208 AA Change: Y125C
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 |
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
Dpf1 |
G |
A |
7: 29,015,927 (GRCm39) |
C383Y |
probably damaging |
Het |
Dse |
T |
A |
10: 34,031,989 (GRCm39) |
Q345L |
probably benign |
Het |
Gnaz |
A |
G |
10: 74,850,706 (GRCm39) |
M244V |
probably damaging |
Het |
Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
Rbm20 |
G |
A |
19: 53,801,874 (GRCm39) |
M127I |
probably damaging |
Het |
Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
Slc35f4 |
T |
C |
14: 49,762,962 (GRCm39) |
|
probably benign |
Het |
Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
Vmn1r44 |
T |
A |
6: 89,870,806 (GRCm39) |
M41K |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
possibly damaging |
Het |
|
Other mutations in Pgap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |