Incidental Mutation 'R0044:Pgap1'
| ID |
32851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap1
|
| Ensembl Gene |
ENSMUSG00000073678 |
| Gene Name |
post-GPI attachment to proteins 1 |
| Synonyms |
9030223K07Rik, D230012E17Rik, oto, 5033403E17Rik, PGAP1 |
| MMRRC Submission |
038338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.764)
|
| Stock # |
R0044 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
54512159-54596843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54532527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 664
(L664S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097739]
|
| AlphaFold |
Q3UUQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097739
AA Change: L664S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678
AA Change: L664S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:PGAP1
|
82 |
302 |
7.2e-83 |
PFAM |
|
transmembrane domain
|
597 |
619 |
N/A |
INTRINSIC |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
transmembrane domain
|
819 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
884 |
N/A |
INTRINSIC |
|
transmembrane domain
|
902 |
921 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3183 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
100% (77/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430571L13Rik |
A |
C |
9: 107,219,698 (GRCm39) |
R50S |
probably damaging |
Het |
| Actn2 |
G |
T |
13: 12,290,013 (GRCm39) |
T176N |
possibly damaging |
Het |
| Adamts7 |
T |
C |
9: 90,053,641 (GRCm39) |
V62A |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,776,834 (GRCm39) |
M447L |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
| Atp11b |
T |
A |
3: 35,866,401 (GRCm39) |
I400N |
probably damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
A |
19: 6,064,373 (GRCm39) |
Y42F |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,871,295 (GRCm39) |
I594V |
probably null |
Het |
| Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
| Cyp2c70 |
T |
A |
19: 40,153,815 (GRCm39) |
N258I |
possibly damaging |
Het |
| Dctn1 |
T |
G |
6: 83,168,116 (GRCm39) |
Y386D |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,290 (GRCm39) |
H41Q |
possibly damaging |
Het |
| Ebf2 |
C |
T |
14: 67,548,417 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,892,052 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
| Gm10036 |
A |
C |
18: 15,965,873 (GRCm39) |
K8T |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,715,170 (GRCm39) |
C119S |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
| Kif6 |
T |
C |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,618,530 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,357,899 (GRCm39) |
I377V |
probably benign |
Het |
| Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mreg |
T |
G |
1: 72,201,534 (GRCm39) |
T153P |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,962,043 (GRCm39) |
I172T |
probably damaging |
Het |
| Odad4 |
A |
T |
11: 100,457,827 (GRCm39) |
I477F |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,974 (GRCm39) |
I32T |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,435,576 (GRCm39) |
T609A |
probably benign |
Het |
| Plcb4 |
T |
A |
2: 135,813,776 (GRCm39) |
V705E |
probably damaging |
Het |
| Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,402 (GRCm39) |
I1655N |
probably damaging |
Het |
| Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
| Rexo1 |
T |
A |
10: 80,380,212 (GRCm39) |
Q928L |
probably benign |
Het |
| Rpl7l1 |
A |
C |
17: 47,089,456 (GRCm39) |
|
probably null |
Het |
| Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
| Sgtb |
A |
G |
13: 104,265,768 (GRCm39) |
T93A |
probably benign |
Het |
| Sigirr |
G |
T |
7: 140,672,226 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
T |
C |
10: 125,063,951 (GRCm39) |
D462G |
probably benign |
Het |
| Slc25a30 |
C |
T |
14: 76,007,089 (GRCm39) |
A85T |
probably benign |
Het |
| Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
| Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,289 (GRCm39) |
I581T |
possibly damaging |
Het |
| Syn2 |
A |
T |
6: 115,112,108 (GRCm39) |
M23L |
unknown |
Het |
| Synrg |
G |
A |
11: 83,900,007 (GRCm39) |
V839I |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,314,327 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,202,972 (GRCm39) |
I721N |
possibly damaging |
Het |
| Ttc22 |
T |
G |
4: 106,494,003 (GRCm39) |
V321G |
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,269,281 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,441 (GRCm39) |
I272L |
possibly damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,379 (GRCm39) |
L43H |
probably damaging |
Het |
| Wnk1 |
G |
T |
6: 120,014,110 (GRCm39) |
R162S |
probably damaging |
Het |
| Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
| Zfp804b |
G |
T |
5: 6,819,655 (GRCm39) |
P1136H |
probably damaging |
Het |
|
| Other mutations in Pgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Pgap1
|
APN |
1 |
54,531,180 (GRCm39) |
splice site |
probably benign |
|
|
IGL01111:Pgap1
|
APN |
1 |
54,570,102 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01406:Pgap1
|
APN |
1 |
54,572,573 (GRCm39) |
splice site |
probably null |
|
|
IGL01592:Pgap1
|
APN |
1 |
54,560,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Pgap1
|
APN |
1 |
54,590,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02026:Pgap1
|
APN |
1 |
54,533,978 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02086:Pgap1
|
APN |
1 |
54,587,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Pgap1
|
APN |
1 |
54,551,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02361:Pgap1
|
APN |
1 |
54,551,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02995:Pgap1
|
APN |
1 |
54,532,509 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03012:Pgap1
|
APN |
1 |
54,572,572 (GRCm39) |
splice site |
probably benign |
|
|
R0109:Pgap1
|
UTSW |
1 |
54,533,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Pgap1
|
UTSW |
1 |
54,533,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Pgap1
|
UTSW |
1 |
54,575,110 (GRCm39) |
splice site |
probably null |
|
|
R0241:Pgap1
|
UTSW |
1 |
54,575,110 (GRCm39) |
splice site |
probably null |
|
|
R0352:Pgap1
|
UTSW |
1 |
54,525,617 (GRCm39) |
splice site |
probably benign |
|
|
R1297:Pgap1
|
UTSW |
1 |
54,567,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1429:Pgap1
|
UTSW |
1 |
54,534,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1465:Pgap1
|
UTSW |
1 |
54,567,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1465:Pgap1
|
UTSW |
1 |
54,567,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1542:Pgap1
|
UTSW |
1 |
54,531,249 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1816:Pgap1
|
UTSW |
1 |
54,531,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1817:Pgap1
|
UTSW |
1 |
54,575,128 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1905:Pgap1
|
UTSW |
1 |
54,551,120 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2006:Pgap1
|
UTSW |
1 |
54,590,220 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3551:Pgap1
|
UTSW |
1 |
54,569,302 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3833:Pgap1
|
UTSW |
1 |
54,596,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3901:Pgap1
|
UTSW |
1 |
54,532,507 (GRCm39) |
missense |
probably benign |
|
|
R4487:Pgap1
|
UTSW |
1 |
54,567,751 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4874:Pgap1
|
UTSW |
1 |
54,569,296 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5184:Pgap1
|
UTSW |
1 |
54,521,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Pgap1
|
UTSW |
1 |
54,551,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6212:Pgap1
|
UTSW |
1 |
54,554,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6269:Pgap1
|
UTSW |
1 |
54,587,167 (GRCm39) |
nonsense |
probably null |
|
|
R6525:Pgap1
|
UTSW |
1 |
54,521,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6944:Pgap1
|
UTSW |
1 |
54,569,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Pgap1
|
UTSW |
1 |
54,582,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7256:Pgap1
|
UTSW |
1 |
54,532,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7290:Pgap1
|
UTSW |
1 |
54,587,225 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7356:Pgap1
|
UTSW |
1 |
54,569,293 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7525:Pgap1
|
UTSW |
1 |
54,570,081 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7602:Pgap1
|
UTSW |
1 |
54,582,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Pgap1
|
UTSW |
1 |
54,590,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Pgap1
|
UTSW |
1 |
54,529,430 (GRCm39) |
missense |
probably benign |
|
|
R9189:Pgap1
|
UTSW |
1 |
54,519,908 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9238:Pgap1
|
UTSW |
1 |
54,550,570 (GRCm39) |
missense |
probably benign |
|
|
R9428:Pgap1
|
UTSW |
1 |
54,575,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Pgap1
|
UTSW |
1 |
54,582,275 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Pgap1
|
UTSW |
1 |
54,521,029 (GRCm39) |
missense |
probably benign |
0.26 |
|
X0060:Pgap1
|
UTSW |
1 |
54,575,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGTGACAAGATTCCTGGTGGAATG -3'
(R):5'- GGATTCTGGTAGATGGCTAGACACCTC -3'
Sequencing Primer
(F):5'- ctggggattaggatagcacatac -3'
(R):5'- TAGATGGCTAGACACCTCTGATG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation