Incidental Mutation 'R0017:Gpld1'
| ID |
19367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpld1
|
| Ensembl Gene |
ENSMUSG00000021340 |
| Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
| Synonyms |
6330541J12Rik |
| MMRRC Submission |
038312-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25174101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 842
(D842G)
|
| 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 damaging
Transcript: ENSMUST00000021773
AA Change: D842G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: D842G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225296
|
| Meta Mutation Damage Score |
0.3380 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.0%
- 20x: 89.2%
|
| Validation Efficiency |
96% (76/79) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,242,775 (GRCm39) |
I1546N |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,422 (GRCm39) |
M224K |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,105,129 (GRCm39) |
C146G |
possibly damaging |
Het |
| Cabp2 |
A |
C |
19: 4,136,242 (GRCm39) |
D83A |
possibly damaging |
Het |
| Ccl1 |
A |
G |
11: 82,068,843 (GRCm39) |
|
probably null |
Het |
| Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
| Efr3b |
C |
A |
12: 4,043,003 (GRCm39) |
C89F |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,675,051 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,821,395 (GRCm39) |
V2467E |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,037,145 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
| Gnb1l |
T |
C |
16: 18,359,810 (GRCm39) |
W72R |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
| Hrc |
A |
G |
7: 44,985,794 (GRCm39) |
H315R |
possibly damaging |
Het |
| Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
| Kcng4 |
T |
C |
8: 120,360,259 (GRCm39) |
Y39C |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,919,044 (GRCm39) |
Y805C |
probably damaging |
Het |
| Mal |
A |
G |
2: 127,482,227 (GRCm39) |
S59P |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,983,423 (GRCm39) |
N1513D |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,244,976 (GRCm39) |
L574P |
probably damaging |
Het |
| Nmd3 |
A |
G |
3: 69,643,425 (GRCm39) |
|
probably null |
Het |
| Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,436,053 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,109,852 (GRCm39) |
F1653S |
probably damaging |
Het |
| Or4a80 |
A |
C |
2: 89,582,365 (GRCm39) |
I269S |
possibly damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,706 (GRCm39) |
I194N |
probably benign |
Het |
| Or8b12b |
T |
G |
9: 37,684,274 (GRCm39) |
F106L |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
T |
G |
4: 143,794,914 (GRCm39) |
C434G |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,634,638 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,492,579 (GRCm39) |
|
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
| Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,746,967 (GRCm39) |
E3760V |
probably damaging |
Het |
| Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
| Serpinb9h |
A |
C |
13: 33,588,494 (GRCm39) |
I360L |
probably damaging |
Het |
| Slc16a12 |
A |
G |
19: 34,650,098 (GRCm39) |
|
probably benign |
Het |
| Slc22a1 |
A |
G |
17: 12,878,646 (GRCm39) |
F356L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,630 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
| Snrk |
T |
C |
9: 121,995,306 (GRCm39) |
S362P |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,883 (GRCm39) |
S344G |
probably benign |
Het |
| Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,730,383 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tbkbp1 |
A |
G |
11: 97,037,115 (GRCm39) |
|
probably benign |
Het |
| Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
| Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,583 (GRCm39) |
D1387G |
probably benign |
Het |
| Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
| Vmn2r127 |
A |
G |
17: 19,373,879 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R2327:Gpld1
|
UTSW |
13 |
25,168,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GGCCAGCATTGCTTTTATGTGTACTTC -3'
(R):5'- GGGTTGATAAAGTCCCAAGCACCG -3'
Sequencing Primer
(F):5'- TGTACTTCAGAGCACAGAATGAC -3'
(R):5'- GCAGCAAACTCAGAGGATGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation