Incidental Mutation 'R9466:Pgap3'
ID |
715173 |
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: 0.391)
|
Stock # |
R9466 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98279503-98291316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98289796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 65
(R65Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090827]
[ENSMUST00000128897]
|
AlphaFold |
A2A559 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090827
AA Change: R65Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000088337 Gene: ENSMUSG00000038208 AA Change: R65Q
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
AA Change: R65Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000119668 Gene: ENSMUSG00000038208 AA Change: R65Q
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
A |
G |
14: 8,248,092 (GRCm38) |
S397P |
probably benign |
Het |
Arhgef28 |
T |
A |
13: 98,124,825 (GRCm39) |
S486C |
|
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atp8b2 |
A |
T |
3: 89,851,484 (GRCm39) |
Y928N |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,048,584 (GRCm39) |
T253A |
possibly damaging |
Het |
Brsk2 |
A |
T |
7: 141,536,800 (GRCm39) |
Y91F |
probably benign |
Het |
C7 |
C |
T |
15: 5,044,884 (GRCm39) |
V385I |
probably benign |
Het |
Cdk5rap1 |
C |
A |
2: 154,192,756 (GRCm39) |
V414F |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Cyp2d26 |
A |
T |
15: 82,674,424 (GRCm39) |
M486K |
probably benign |
Het |
Dchs2 |
G |
T |
3: 83,176,564 (GRCm39) |
A841S |
probably damaging |
Het |
Dnajb1 |
T |
G |
8: 84,337,384 (GRCm39) |
V320G |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,769,234 (GRCm39) |
S67P |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,662,414 (GRCm39) |
T548A |
probably benign |
Het |
Grhl3 |
A |
T |
4: 135,283,412 (GRCm39) |
S276T |
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,119,483 (GRCm39) |
N331K |
probably benign |
Het |
Ikbke |
T |
A |
1: 131,193,445 (GRCm39) |
Q519L |
probably damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Kdm4b |
A |
C |
17: 56,696,548 (GRCm39) |
E421D |
probably benign |
Het |
Krt6b |
A |
T |
15: 101,586,027 (GRCm39) |
Y349N |
probably damaging |
Het |
Larp1 |
T |
C |
11: 57,943,461 (GRCm39) |
S845P |
possibly damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nup98 |
G |
A |
7: 101,818,611 (GRCm39) |
S473L |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,631,796 (GRCm39) |
M1K |
probably null |
Het |
Or14c45 |
C |
G |
7: 86,176,080 (GRCm39) |
F38L |
probably benign |
Het |
Or8g28 |
T |
A |
9: 39,169,491 (GRCm39) |
H159L |
possibly damaging |
Het |
Ovgp1 |
G |
A |
3: 105,887,484 (GRCm39) |
R265H |
|
Het |
Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
C |
A |
2: 160,596,520 (GRCm39) |
H680N |
probably benign |
Het |
Pnliprp1 |
A |
T |
19: 58,723,081 (GRCm39) |
D194V |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,123,799 (GRCm39) |
D158G |
probably benign |
Het |
Prkd2 |
A |
T |
7: 16,589,696 (GRCm39) |
H466L |
probably damaging |
Het |
Prkd3 |
T |
C |
17: 79,264,049 (GRCm39) |
I683V |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,503,258 (GRCm39) |
H2734Q |
possibly damaging |
Het |
Scnn1b |
A |
T |
7: 121,502,013 (GRCm39) |
I224F |
probably damaging |
Het |
Sis |
A |
T |
3: 72,872,910 (GRCm39) |
|
probably null |
Het |
Syt15 |
C |
T |
14: 33,942,991 (GRCm39) |
L17F |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,199,252 (GRCm39) |
F15S |
possibly damaging |
Het |
Thsd7b |
A |
G |
1: 130,122,866 (GRCm39) |
K1495R |
probably benign |
Het |
Ttc28 |
T |
C |
5: 111,330,895 (GRCm39) |
S372P |
probably damaging |
Het |
Vmn1r68 |
A |
T |
7: 10,261,317 (GRCm39) |
Y260* |
probably null |
Het |
Vmn1r68 |
A |
G |
7: 10,261,417 (GRCm39) |
V227A |
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 |
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'- ACCCTGTGACACTGCATCTC -3'
(R):5'- GATCCTAAGAGCTTAGATCAAGGG -3'
Sequencing Primer
(F):5'- TGCATCTCAGGCTGCTGG -3'
(R):5'- GCTTATGCCTCCCTAAGTC -3'
|
Posted On |
2022-06-15 |