Incidental Mutation 'R9150:Gpld1'
| ID |
694982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpld1
|
| Ensembl Gene |
ENSMUSG00000021340 |
| Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
| Synonyms |
6330541J12Rik |
| MMRRC Submission |
068938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25146305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 183
(Y183F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021773]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021773
AA Change: Y183F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021773
Gene: ENSMUSG00000021340
AA Change: Y183F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
CTCCGGTGAGTGCCTCATCC |
CTCC |
5: 137,553,354 (GRCm39) |
|
probably null |
Het |
| Ampd1 |
A |
T |
3: 102,988,359 (GRCm39) |
I101F |
possibly damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,673,614 (GRCm39) |
V92A |
possibly damaging |
Het |
| Arih1 |
C |
A |
9: 59,344,069 (GRCm39) |
L189F |
possibly damaging |
Het |
| B4galt3 |
A |
G |
1: 171,103,899 (GRCm39) |
R379G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,590,378 (GRCm39) |
N642D |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,299 (GRCm39) |
H207R |
probably benign |
Het |
| Dcps |
A |
T |
9: 35,035,938 (GRCm39) |
L316H |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,825,103 (GRCm39) |
Y142C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,755,791 (GRCm39) |
V821E |
probably benign |
Het |
| Fam181a |
A |
T |
12: 103,282,139 (GRCm39) |
N15Y |
probably damaging |
Het |
| Gm26657 |
G |
T |
4: 56,740,835 (GRCm39) |
E7* |
probably null |
Het |
| Gm8267 |
A |
T |
14: 44,955,362 (GRCm39) |
S220T |
probably benign |
Het |
| Gpr158 |
G |
A |
2: 21,831,251 (GRCm39) |
G784R |
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,524,657 (GRCm39) |
L215P |
|
Het |
| Gtpbp1 |
A |
G |
15: 79,592,165 (GRCm39) |
D252G |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,103,448 (GRCm39) |
V1135A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,498,205 (GRCm39) |
T397A |
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,286,030 (GRCm39) |
K752Q |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,991,208 (GRCm39) |
T201A |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,502,110 (GRCm39) |
N85K |
|
Het |
| Mdga1 |
T |
C |
17: 30,057,420 (GRCm39) |
T92A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,387,820 (GRCm39) |
D421E |
probably benign |
Het |
| Oga |
A |
T |
19: 45,771,421 (GRCm39) |
V50E |
probably benign |
Het |
| Or13g1 |
G |
C |
7: 85,955,942 (GRCm39) |
F126L |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,005 (GRCm39) |
C169* |
probably null |
Het |
| Or5m3 |
A |
T |
2: 85,838,626 (GRCm39) |
K169* |
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,336 (GRCm39) |
M258K |
probably damaging |
Het |
| Pcdhga5 |
A |
C |
18: 37,827,933 (GRCm39) |
N127T |
probably damaging |
Het |
| Phyhipl |
A |
T |
10: 70,404,887 (GRCm39) |
V107E |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,786,256 (GRCm39) |
R2383C |
|
Het |
| Ppp1r16a |
G |
A |
15: 76,575,054 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,531 (GRCm39) |
Y158C |
probably benign |
Het |
| Rnf41 |
T |
C |
10: 128,272,399 (GRCm39) |
V142A |
|
Het |
| Sgcd |
C |
T |
11: 46,870,170 (GRCm39) |
V264I |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,763 (GRCm39) |
S247P |
probably benign |
Het |
| Slc17a7 |
T |
G |
7: 44,820,167 (GRCm39) |
Y241D |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,915 (GRCm39) |
K724* |
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,101 (GRCm39) |
I537F |
possibly damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,091,359 (GRCm39) |
Q33L |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,244,468 (GRCm39) |
R189Q |
unknown |
Het |
| Srd5a3 |
T |
A |
5: 76,297,615 (GRCm39) |
L139Q |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,985 (GRCm39) |
Y38* |
probably null |
Het |
| Tln2 |
A |
T |
9: 67,128,778 (GRCm39) |
M1437K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,687,401 (GRCm39) |
I467T |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,398,691 (GRCm39) |
I599N |
probably damaging |
Het |
| Trmt112 |
T |
A |
19: 6,887,620 (GRCm39) |
L23Q |
probably damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,056 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,375,850 (GRCm39) |
Y476C |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,274 (GRCm39) |
W83R |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,783 (GRCm39) |
H403L |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,586,809 (GRCm39) |
I167N |
probably benign |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,039,603 (GRCm39) |
Q401* |
probably null |
Het |
| Zfp715 |
T |
A |
7: 42,948,713 (GRCm39) |
I416F |
possibly damaging |
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 |
|
|
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 |
25,127,603 (GRCm39) |
missense |
unknown |
|
|
R3154:Gpld1
|
UTSW |
13 |
25,140,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- AACTCTGAATTCACAAAATTGAACAC -3'
(R):5'- GAAATGCAACCCCTGGAACTA -3'
Sequencing Primer
(F):5'- GGAAACTTACTGTCCCTGTGAAGC -3'
(R):5'- CTAAAATCCGAAAAGGGTGCTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation