Incidental Mutation 'R2327:Gpld1'
ID |
245722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpld1
|
Ensembl Gene |
ENSMUSG00000021340 |
Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
Synonyms |
6330541J12Rik |
MMRRC Submission |
040318-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2327 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25168804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 773
(M773L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021772]
[ENSMUST00000021773]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021772
|
SMART Domains |
Protein: ENSMUSP00000021772 Gene: ENSMUSG00000021339
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
292 |
306 |
N/A |
INTRINSIC |
coiled coil region
|
323 |
359 |
N/A |
INTRINSIC |
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
transmembrane domain
|
409 |
426 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021773
AA Change: M773L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021773 Gene: ENSMUSG00000021340 AA Change: M773L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:Zn_dep_PLPC
|
28 |
219 |
9.8e-28 |
PFAM |
Int_alpha
|
377 |
435 |
7.21e-11 |
SMART |
Int_alpha
|
446 |
503 |
7.43e-13 |
SMART |
Int_alpha
|
509 |
565 |
7.86e-3 |
SMART |
Int_alpha
|
576 |
643 |
4.09e0 |
SMART |
Blast:Int_alpha
|
644 |
708 |
2e-24 |
BLAST |
Int_alpha
|
716 |
774 |
1.86e-4 |
SMART |
Blast:Int_alpha
|
789 |
837 |
1e-16 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
T |
14: 64,208,569 (GRCm39) |
|
probably null |
Het |
Agbl4 |
T |
G |
4: 111,383,798 (GRCm39) |
S218A |
probably benign |
Het |
Apol11b |
T |
C |
15: 77,522,153 (GRCm39) |
E48G |
probably damaging |
Het |
Atp4a |
T |
A |
7: 30,419,666 (GRCm39) |
N676K |
probably benign |
Het |
Capn5 |
T |
A |
7: 97,775,574 (GRCm39) |
S456C |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,600,161 (GRCm39) |
Y590C |
probably damaging |
Het |
Ccdc188 |
G |
T |
16: 18,037,070 (GRCm39) |
G283W |
probably damaging |
Het |
Cd69 |
A |
G |
6: 129,248,351 (GRCm39) |
V45A |
probably damaging |
Het |
Col3a1 |
G |
T |
1: 45,377,771 (GRCm39) |
|
probably benign |
Het |
Cyb561a3 |
A |
T |
19: 10,564,166 (GRCm39) |
T169S |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,527,397 (GRCm39) |
I248L |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,947,344 (GRCm39) |
T236A |
possibly damaging |
Het |
Efs |
A |
G |
14: 55,154,961 (GRCm39) |
V426A |
probably benign |
Het |
Eme2 |
A |
G |
17: 25,113,157 (GRCm39) |
L136S |
probably damaging |
Het |
Fastkd1 |
T |
A |
2: 69,535,872 (GRCm39) |
K312* |
probably null |
Het |
Fbxl12 |
A |
G |
9: 20,553,530 (GRCm39) |
L19P |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,110,913 (GRCm39) |
Y980* |
probably null |
Het |
Fscn2 |
T |
A |
11: 120,257,527 (GRCm39) |
I296N |
probably damaging |
Het |
Gabrg3 |
A |
G |
7: 56,384,835 (GRCm39) |
V242A |
probably benign |
Het |
Galk2 |
A |
G |
2: 125,817,315 (GRCm39) |
H368R |
probably damaging |
Het |
Gm12695 |
C |
T |
4: 96,657,893 (GRCm39) |
S92N |
probably benign |
Het |
Gpalpp1 |
A |
T |
14: 76,336,031 (GRCm39) |
S196T |
probably benign |
Het |
Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
Inpp4a |
A |
G |
1: 37,405,247 (GRCm39) |
T92A |
probably damaging |
Het |
Irgm2 |
A |
G |
11: 58,111,218 (GRCm39) |
D303G |
probably damaging |
Het |
Kpna2rt |
C |
A |
17: 90,217,697 (GRCm39) |
R16S |
probably benign |
Het |
Krtap5-2 |
T |
G |
7: 141,728,748 (GRCm39) |
S311R |
unknown |
Het |
Krtdap |
T |
A |
7: 30,489,185 (GRCm39) |
|
probably null |
Het |
Lce1g |
G |
T |
3: 92,658,140 (GRCm39) |
S56Y |
unknown |
Het |
Lrrn1 |
G |
A |
6: 107,545,794 (GRCm39) |
V531I |
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,861,358 (GRCm39) |
E429G |
probably damaging |
Het |
Mrgpra2b |
T |
G |
7: 47,113,793 (GRCm39) |
D287A |
probably damaging |
Het |
Mterf3 |
T |
C |
13: 67,076,258 (GRCm39) |
T150A |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,014,725 (GRCm39) |
N506S |
probably benign |
Het |
Myh15 |
G |
T |
16: 48,963,313 (GRCm39) |
V1085L |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,687,048 (GRCm39) |
N51S |
probably benign |
Het |
Nlrc3 |
A |
T |
16: 3,771,304 (GRCm39) |
L196Q |
probably damaging |
Het |
Nlrp9c |
T |
A |
7: 26,074,747 (GRCm39) |
N816I |
probably damaging |
Het |
Nsun2 |
T |
C |
13: 69,767,700 (GRCm39) |
V218A |
probably benign |
Het |
Nt5dc1 |
T |
C |
10: 34,189,673 (GRCm39) |
E339G |
possibly damaging |
Het |
Or10ak14 |
C |
T |
4: 118,611,331 (GRCm39) |
V135I |
probably benign |
Het |
Or51b6b |
A |
G |
7: 103,309,779 (GRCm39) |
V226A |
probably damaging |
Het |
Or8j3c |
A |
T |
2: 86,253,165 (GRCm39) |
L285* |
probably null |
Het |
Pik3ap1 |
A |
G |
19: 41,284,828 (GRCm39) |
I619T |
probably damaging |
Het |
Plk1 |
A |
G |
7: 121,759,118 (GRCm39) |
D118G |
probably benign |
Het |
Ppat |
T |
C |
5: 77,070,314 (GRCm39) |
D168G |
possibly damaging |
Het |
Preb |
T |
C |
5: 31,115,849 (GRCm39) |
E198G |
probably damaging |
Het |
Psg21 |
T |
C |
7: 18,386,378 (GRCm39) |
T203A |
possibly damaging |
Het |
Rbm17 |
A |
G |
2: 11,602,942 (GRCm39) |
V54A |
probably damaging |
Het |
Rgma |
T |
A |
7: 73,067,574 (GRCm39) |
D276E |
probably damaging |
Het |
Ric8a |
T |
C |
7: 140,439,471 (GRCm39) |
L77P |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scarf1 |
A |
C |
11: 75,416,854 (GRCm39) |
E765D |
probably damaging |
Het |
Scart1 |
A |
T |
7: 139,803,890 (GRCm39) |
N363Y |
possibly damaging |
Het |
Sec14l4 |
G |
A |
11: 3,990,041 (GRCm39) |
M113I |
probably benign |
Het |
Senp1 |
C |
T |
15: 97,980,165 (GRCm39) |
C60Y |
probably damaging |
Het |
Slc22a21 |
T |
A |
11: 53,842,130 (GRCm39) |
K549N |
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
Spata13 |
T |
C |
14: 60,947,004 (GRCm39) |
M684T |
probably damaging |
Het |
Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
Stag1 |
A |
G |
9: 100,668,666 (GRCm39) |
Y198C |
possibly damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,402,833 (GRCm39) |
V210E |
probably damaging |
Het |
Tnc |
C |
T |
4: 63,893,475 (GRCm39) |
E1604K |
possibly damaging |
Het |
Tspan31 |
T |
C |
10: 126,904,365 (GRCm39) |
D143G |
probably benign |
Het |
Tspan5 |
T |
A |
3: 138,603,903 (GRCm39) |
Y131* |
probably null |
Het |
Ttc21a |
A |
G |
9: 119,795,189 (GRCm39) |
D1070G |
probably damaging |
Het |
Vmn2r26 |
C |
T |
6: 124,016,708 (GRCm39) |
P391S |
probably benign |
Het |
Vmn2r72 |
A |
G |
7: 85,387,464 (GRCm39) |
I700T |
probably damaging |
Het |
Vps13c |
A |
C |
9: 67,821,102 (GRCm39) |
N1204T |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
|
Other mutations in Gpld1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Gpld1
|
APN |
13 |
25,170,905 (GRCm39) |
splice site |
probably benign |
|
IGL00886:Gpld1
|
APN |
13 |
25,146,336 (GRCm39) |
nonsense |
probably null |
|
IGL01060:Gpld1
|
APN |
13 |
25,166,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01450:Gpld1
|
APN |
13 |
25,163,664 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02176:Gpld1
|
APN |
13 |
25,168,192 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02288:Gpld1
|
APN |
13 |
25,163,666 (GRCm39) |
nonsense |
probably null |
|
IGL02323:Gpld1
|
APN |
13 |
25,166,757 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02588:Gpld1
|
APN |
13 |
25,127,682 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02832:Gpld1
|
APN |
13 |
25,136,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02989:Gpld1
|
APN |
13 |
25,174,019 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03282:Gpld1
|
APN |
13 |
25,155,391 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03345:Gpld1
|
APN |
13 |
25,171,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R0017:Gpld1
|
UTSW |
13 |
25,174,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R0017:Gpld1
|
UTSW |
13 |
25,174,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Gpld1
|
UTSW |
13 |
25,146,818 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0441:Gpld1
|
UTSW |
13 |
25,146,303 (GRCm39) |
nonsense |
probably null |
|
R1172:Gpld1
|
UTSW |
13 |
25,141,549 (GRCm39) |
splice site |
probably null |
|
R1411:Gpld1
|
UTSW |
13 |
25,146,791 (GRCm39) |
missense |
probably damaging |
0.99 |
R1502:Gpld1
|
UTSW |
13 |
25,155,399 (GRCm39) |
missense |
probably benign |
0.00 |
R1565:Gpld1
|
UTSW |
13 |
25,140,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R1931:Gpld1
|
UTSW |
13 |
25,127,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1999:Gpld1
|
UTSW |
13 |
25,146,630 (GRCm39) |
missense |
probably benign |
0.23 |
R2150:Gpld1
|
UTSW |
13 |
25,146,630 (GRCm39) |
missense |
probably benign |
0.23 |
R2240:Gpld1
|
UTSW |
13 |
25,166,490 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2373:Gpld1
|
UTSW |
13 |
25,146,839 (GRCm39) |
missense |
probably benign |
0.26 |
R3153:Gpld1
|
UTSW |
13 |
25,127,603 (GRCm39) |
missense |
unknown |
|
R3154:Gpld1
|
UTSW |
13 |
25,140,146 (GRCm39) |
critical splice donor site |
probably null |
|
R3154:Gpld1
|
UTSW |
13 |
25,127,603 (GRCm39) |
missense |
unknown |
|
R3911:Gpld1
|
UTSW |
13 |
25,146,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R4616:Gpld1
|
UTSW |
13 |
25,168,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Gpld1
|
UTSW |
13 |
25,166,586 (GRCm39) |
splice site |
probably null |
|
R4755:Gpld1
|
UTSW |
13 |
25,163,675 (GRCm39) |
nonsense |
probably null |
|
R4755:Gpld1
|
UTSW |
13 |
25,163,671 (GRCm39) |
missense |
probably benign |
0.13 |
R4835:Gpld1
|
UTSW |
13 |
25,166,699 (GRCm39) |
missense |
probably benign |
0.00 |
R4895:Gpld1
|
UTSW |
13 |
25,163,711 (GRCm39) |
missense |
probably damaging |
0.97 |
R5050:Gpld1
|
UTSW |
13 |
25,146,739 (GRCm39) |
missense |
probably benign |
0.00 |
R5182:Gpld1
|
UTSW |
13 |
25,168,053 (GRCm39) |
splice site |
probably null |
|
R6161:Gpld1
|
UTSW |
13 |
25,155,397 (GRCm39) |
missense |
probably benign |
0.00 |
R6626:Gpld1
|
UTSW |
13 |
25,163,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R7021:Gpld1
|
UTSW |
13 |
25,168,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:Gpld1
|
UTSW |
13 |
25,146,388 (GRCm39) |
missense |
probably benign |
0.05 |
R7583:Gpld1
|
UTSW |
13 |
25,159,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R7659:Gpld1
|
UTSW |
13 |
25,163,964 (GRCm39) |
missense |
probably benign |
0.00 |
R7737:Gpld1
|
UTSW |
13 |
25,159,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R7738:Gpld1
|
UTSW |
13 |
25,146,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7752:Gpld1
|
UTSW |
13 |
25,146,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Gpld1
|
UTSW |
13 |
25,146,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R7901:Gpld1
|
UTSW |
13 |
25,146,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R8855:Gpld1
|
UTSW |
13 |
25,170,890 (GRCm39) |
missense |
probably benign |
0.00 |
R8866:Gpld1
|
UTSW |
13 |
25,170,890 (GRCm39) |
missense |
probably benign |
0.00 |
R9150:Gpld1
|
UTSW |
13 |
25,146,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Gpld1
|
UTSW |
13 |
25,136,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R9359:Gpld1
|
UTSW |
13 |
25,163,712 (GRCm39) |
missense |
probably benign |
0.00 |
R9403:Gpld1
|
UTSW |
13 |
25,163,712 (GRCm39) |
missense |
probably benign |
0.00 |
X0024:Gpld1
|
UTSW |
13 |
25,166,579 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGGCCTTTCACTGACTTTGG -3'
(R):5'- GCTGTGAACAAGGACCAAGTC -3'
Sequencing Primer
(F):5'- AGCCGTGGCAACTGGTTAC -3'
(R):5'- CCAAGTCCAACTGGGTTCC -3'
|
Posted On |
2014-10-30 |