Incidental Mutation 'R5783:Pgap3'
| ID |
447876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap3
|
| Ensembl Gene |
ENSMUSG00000038208 |
| Gene Name |
post-GPI attachment to proteins 3 |
| Synonyms |
CAB2, Perld1, D430035D22Rik |
| MMRRC Submission |
043380-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.402)
|
| Stock # |
R5783 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98279503-98291316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 98281290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 190
(V190G)
|
| 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
AA Change: V241G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208
AA Change: V241G
| 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
AA Change: V190G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119668
Gene: ENSMUSG00000038208
AA Change: V190G
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,468,787 (GRCm39) |
Y48F |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,051,022 (GRCm39) |
D1082G |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,730,468 (GRCm39) |
A236T |
possibly damaging |
Het |
| Ccdc88b |
A |
C |
19: 6,831,284 (GRCm39) |
C553G |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,967,341 (GRCm39) |
D2161G |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,933,723 (GRCm39) |
N618K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,914,661 (GRCm39) |
N118D |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,493,843 (GRCm39) |
I1263S |
probably damaging |
Het |
| Dnaaf9 |
A |
C |
2: 130,581,003 (GRCm39) |
F582L |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,183,040 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,518,655 (GRCm39) |
K50E |
probably damaging |
Het |
| Fen1 |
G |
T |
19: 10,178,194 (GRCm39) |
Y83* |
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,793,632 (GRCm39) |
I532T |
probably benign |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| Impdh1 |
A |
T |
6: 29,206,342 (GRCm39) |
F140Y |
possibly damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,188 (GRCm39) |
D420G |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,113,612 (GRCm39) |
V664A |
probably benign |
Het |
| Krt80 |
C |
T |
15: 101,257,360 (GRCm39) |
|
probably null |
Het |
| Lars2 |
T |
G |
9: 123,290,661 (GRCm39) |
M876R |
probably benign |
Het |
| Lrrc9 |
A |
G |
12: 72,502,827 (GRCm39) |
E266G |
possibly damaging |
Het |
| Mesd |
T |
A |
7: 83,544,883 (GRCm39) |
V120E |
probably damaging |
Het |
| Mogs |
C |
T |
6: 83,095,652 (GRCm39) |
T823I |
probably damaging |
Het |
| Mrgprh |
C |
A |
17: 13,096,333 (GRCm39) |
T191N |
probably benign |
Het |
| Mtss1 |
C |
T |
15: 58,815,373 (GRCm39) |
S729N |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,412,165 (GRCm39) |
E1704* |
probably null |
Het |
| Or2ag13 |
C |
A |
7: 106,472,541 (GRCm39) |
V304F |
probably damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,149 (GRCm39) |
I40F |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,338,982 (GRCm39) |
Y60H |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,103,644 (GRCm39) |
L216* |
probably null |
Het |
| Pcdha5 |
T |
C |
18: 37,095,534 (GRCm39) |
V681A |
probably benign |
Het |
| Ppp2r5a |
A |
T |
1: 191,086,837 (GRCm39) |
Y373N |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,535,665 (GRCm39) |
L1675P |
probably damaging |
Het |
| Rapgef2 |
T |
G |
3: 78,995,300 (GRCm39) |
I635L |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,995,452 (GRCm39) |
D193G |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,343 (GRCm39) |
V4140I |
probably benign |
Het |
| Scamp5 |
A |
G |
9: 57,353,353 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
T |
4: 59,076,239 (GRCm39) |
L568* |
probably null |
Het |
| Slc41a3 |
T |
C |
6: 90,596,524 (GRCm39) |
I31T |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,701,863 (GRCm39) |
V368A |
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,909,340 (GRCm39) |
N52S |
possibly damaging |
Het |
| Svop |
T |
G |
5: 114,202,996 (GRCm39) |
D72A |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,609,810 (GRCm39) |
I153V |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,305,087 (GRCm39) |
S32I |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,959,813 (GRCm39) |
R694S |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,729,187 (GRCm39) |
L15P |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,697,251 (GRCm39) |
L667Q |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,434 (GRCm39) |
S241R |
probably damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
C |
A |
8: 72,686,308 (GRCm39) |
H213N |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,921,829 (GRCm39) |
G652D |
possibly damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,355,081 (GRCm39) |
L916P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGAGAACGTCCCAGTCG -3'
(R):5'- AGAGCTGTAGTTGGGCACAG -3'
Sequencing Primer
(F):5'- TGCCCTAGGAGCGGACAAG -3'
(R):5'- GGGCACAGGGTGGATTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation