Incidental Mutation 'R7901:Gpld1'
ID |
610006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpld1
|
Ensembl Gene |
ENSMUSG00000021340 |
Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
Synonyms |
6330541J12Rik |
MMRRC Submission |
045953-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7901 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25146758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 240
(V240E)
|
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: V240E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021773 Gene: ENSMUSG00000021340 AA Change: V240E
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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 |
Ablim1 |
A |
T |
19: 57,119,434 (GRCm39) |
|
probably null |
Het |
Adpgk |
T |
C |
9: 59,222,300 (GRCm39) |
V409A |
probably benign |
Het |
Agfg2 |
A |
T |
5: 137,665,966 (GRCm39) |
F98I |
probably damaging |
Het |
Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
Asb8 |
T |
C |
15: 98,040,614 (GRCm39) |
Y16C |
probably damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccnt1 |
A |
T |
15: 98,441,797 (GRCm39) |
D490E |
probably benign |
Het |
Cenpf |
G |
T |
1: 189,389,445 (GRCm39) |
D1462E |
probably damaging |
Het |
Clcn6 |
C |
T |
4: 148,095,202 (GRCm39) |
R736H |
probably damaging |
Het |
Col4a2 |
A |
T |
8: 11,479,358 (GRCm39) |
D747V |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,299,190 (GRCm39) |
E3126G |
unknown |
Het |
Crybg3 |
T |
C |
16: 59,377,907 (GRCm39) |
T1116A |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,243,368 (GRCm39) |
L128Q |
probably damaging |
Het |
Ddx17 |
A |
T |
15: 79,422,789 (GRCm39) |
D316E |
probably damaging |
Het |
Ect2l |
T |
A |
10: 18,017,712 (GRCm39) |
D681V |
possibly damaging |
Het |
Ell2 |
A |
T |
13: 75,912,105 (GRCm39) |
K464* |
probably null |
Het |
Eme1 |
G |
T |
11: 94,541,645 (GRCm39) |
P59Q |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,294,821 (GRCm39) |
S2P |
possibly damaging |
Het |
Fndc9 |
T |
C |
11: 46,128,576 (GRCm39) |
Y32H |
probably damaging |
Het |
Frem1 |
G |
T |
4: 82,877,614 (GRCm39) |
T1321K |
probably benign |
Het |
Gabrg2 |
A |
G |
11: 41,867,418 (GRCm39) |
V67A |
probably benign |
Het |
Gm4553 |
ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG |
ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG |
7: 141,718,602 (GRCm39) |
|
probably benign |
Het |
Gm5145 |
A |
C |
17: 20,790,900 (GRCm39) |
I93L |
possibly damaging |
Het |
Gsc |
T |
A |
12: 104,439,131 (GRCm39) |
S82C |
possibly damaging |
Het |
H2-T10 |
C |
T |
17: 36,431,143 (GRCm39) |
E173K |
probably benign |
Het |
Ifi213 |
A |
T |
1: 173,394,784 (GRCm39) |
S584T |
probably benign |
Het |
Klk1b1 |
T |
C |
7: 43,620,669 (GRCm39) |
I253T |
probably damaging |
Het |
Klra4 |
A |
G |
6: 130,040,113 (GRCm39) |
L53P |
probably damaging |
Het |
Lct |
A |
G |
1: 128,216,722 (GRCm39) |
Y1697H |
probably benign |
Het |
Mrs2 |
T |
A |
13: 25,202,549 (GRCm39) |
D64V |
possibly damaging |
Het |
Muc13 |
A |
G |
16: 33,636,211 (GRCm39) |
Q565R |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,507,353 (GRCm39) |
V873A |
possibly damaging |
Het |
Nup155 |
C |
T |
15: 8,145,926 (GRCm39) |
P159L |
possibly damaging |
Het |
Or10v1 |
A |
T |
19: 11,873,898 (GRCm39) |
H171L |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,573 (GRCm39) |
S240T |
probably damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,887 (GRCm39) |
|
probably null |
Het |
Phip |
T |
G |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
Ppip5k1 |
T |
C |
2: 121,142,390 (GRCm39) |
Q1353R |
probably damaging |
Het |
Ptprb |
C |
G |
10: 116,205,333 (GRCm39) |
P1896A |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,154,799 (GRCm39) |
L601P |
possibly damaging |
Het |
Sash1 |
C |
T |
10: 8,656,328 (GRCm39) |
W221* |
probably null |
Het |
Skint1 |
A |
C |
4: 111,876,399 (GRCm39) |
T107P |
probably damaging |
Het |
Slc45a4 |
G |
A |
15: 73,477,621 (GRCm39) |
|
probably benign |
Het |
Snx13 |
T |
A |
12: 35,150,624 (GRCm39) |
D309E |
probably benign |
Het |
Spcs1 |
A |
G |
14: 30,722,628 (GRCm39) |
Y64H |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,064,308 (GRCm39) |
Y2434N |
possibly damaging |
Het |
Tnpo3 |
T |
C |
6: 29,568,990 (GRCm39) |
E454G |
possibly damaging |
Het |
Tsg101 |
G |
T |
7: 46,563,183 (GRCm39) |
Q24K |
probably benign |
Het |
Ttc6 |
C |
T |
12: 57,735,353 (GRCm39) |
R1132W |
probably damaging |
Het |
Unkl |
T |
C |
17: 25,437,627 (GRCm39) |
S200P |
probably damaging |
Het |
Uts2r |
G |
A |
11: 121,052,234 (GRCm39) |
S366N |
probably benign |
Het |
Wbp4 |
A |
T |
14: 79,709,845 (GRCm39) |
V130E |
probably damaging |
Het |
Zfp592 |
T |
G |
7: 80,674,469 (GRCm39) |
S478A |
probably benign |
Het |
Zfp664 |
A |
T |
5: 124,962,839 (GRCm39) |
K78* |
probably null |
Het |
Zfp738 |
A |
T |
13: 67,821,110 (GRCm39) |
L79* |
probably null |
Het |
Zfyve28 |
C |
T |
5: 34,382,326 (GRCm39) |
R258Q |
probably 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 |
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'- CCACTGCAGCTCATGAAGATTC -3'
(R):5'- TTCTCCCCAAATGGCTTCAGAC -3'
Sequencing Primer
(F):5'- GCAGCTCATGAAGATTCTTATTTGTG -3'
(R):5'- TGGCTTCAGACAACACTTCTGAG -3'
|
Posted On |
2019-12-20 |