Incidental Mutation 'R1999:Gpld1'
ID |
224775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpld1
|
Ensembl Gene |
ENSMUSG00000021340 |
Gene Name |
glycosylphosphatidylinositol specific phospholipase D1 |
Synonyms |
6330541J12Rik |
MMRRC Submission |
040009-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1999 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
25127135-25175919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25146630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 225
(V225A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021773]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021773
AA Change: V225A
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021773 Gene: ENSMUSG00000021340 AA Change: V225A
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: ENSMUST00000128315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223873
|
Meta Mutation Damage Score |
0.0971 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
Ambp |
C |
T |
4: 63,067,666 (GRCm39) |
M181I |
possibly damaging |
Het |
Anln |
A |
G |
9: 22,244,348 (GRCm39) |
*1122Q |
probably null |
Het |
Apc2 |
C |
T |
10: 80,144,994 (GRCm39) |
T635I |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
Bltp1 |
C |
T |
3: 36,962,360 (GRCm39) |
T487I |
probably damaging |
Het |
Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
Ceacam5 |
A |
T |
7: 17,481,172 (GRCm39) |
K306N |
possibly damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,915 (GRCm39) |
R310G |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,746,977 (GRCm39) |
T538A |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
Diaph3 |
T |
A |
14: 87,222,302 (GRCm39) |
D405V |
possibly damaging |
Het |
Dync1h1 |
T |
C |
12: 110,632,857 (GRCm39) |
|
probably null |
Het |
Epha7 |
C |
T |
4: 28,938,686 (GRCm39) |
Q514* |
probably null |
Het |
Etfb |
C |
T |
7: 43,103,987 (GRCm39) |
L141F |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,405,430 (GRCm39) |
V727A |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,472,428 (GRCm39) |
S811G |
probably null |
Het |
Kcnt1 |
T |
A |
2: 25,782,372 (GRCm39) |
H156Q |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,988,517 (GRCm39) |
N507S |
probably damaging |
Het |
Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
Medag |
T |
A |
5: 149,350,717 (GRCm39) |
F64Y |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,530,856 (GRCm39) |
S331R |
probably damaging |
Het |
Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,151 (GRCm39) |
S502P |
possibly damaging |
Het |
Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
Or8k30 |
T |
A |
2: 86,339,089 (GRCm39) |
Y95* |
probably null |
Het |
Otof |
T |
A |
5: 30,546,116 (GRCm39) |
E427D |
probably benign |
Het |
Pclo |
T |
C |
5: 14,727,094 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,496,621 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
C |
7: 122,589,575 (GRCm39) |
V459A |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
Slc44a5 |
T |
C |
3: 153,964,130 (GRCm39) |
F499L |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,957,297 (GRCm39) |
V492I |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
Ssc5d |
A |
T |
7: 4,945,713 (GRCm39) |
D915V |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,523,349 (GRCm39) |
D668G |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,271,780 (GRCm39) |
D73G |
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
G |
A |
4: 43,681,300 (GRCm39) |
C439Y |
probably damaging |
Het |
Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
Vmn2r-ps158 |
A |
T |
7: 42,696,883 (GRCm39) |
I647F |
probably damaging |
Het |
Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
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 |
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'- TCCTGGAAATGTAAGTGTGGAC -3'
(R):5'- TCGTGGACCAGAATGCCATG -3'
Sequencing Primer
(F):5'- ACCAGAAGGGACCTCTCTGAG -3'
(R):5'- GTGGACCAGAATGCCATGTCATC -3'
|
Posted On |
2014-08-25 |