Incidental Mutation 'IGL01474:Pld3'
| ID |
88373 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pld3
|
| Ensembl Gene |
ENSMUSG00000003363 |
| Gene Name |
phospholipase D family member 3 |
| Synonyms |
Sam-9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27231425-27252643 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27232044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 412
(V412A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037134]
[ENSMUST00000108353]
[ENSMUST00000117095]
[ENSMUST00000117611]
|
| AlphaFold |
O35405 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037134
|
| SMART Domains |
Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1howa_
|
1 |
142 |
8e-12 |
SMART |
|
Blast:S_TKc
|
1 |
143 |
8e-99 |
BLAST |
|
PDB:3ANR|D
|
1 |
155 |
1e-12 |
PDB |
|
low complexity region
|
192 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108353
|
| SMART Domains |
Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
11 |
347 |
9.31e-74 |
SMART |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117095
AA Change: V412A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: V412A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
PLDc
|
194 |
221 |
9.25e-10 |
SMART |
|
Pfam:PLDc_3
|
224 |
401 |
1.6e-43 |
PFAM |
|
PLDc
|
409 |
435 |
1.19e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117611
AA Change: V412A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: V412A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
PLDc
|
194 |
221 |
9.25e-10 |
SMART |
|
low complexity region
|
285 |
297 |
N/A |
INTRINSIC |
|
PLDc
|
409 |
435 |
1.19e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155287
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
Het |
|
| Other mutations in Pld3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0624:Pld3
|
UTSW |
7 |
27,239,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1384:Pld3
|
UTSW |
7 |
27,237,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1845:Pld3
|
UTSW |
7 |
27,238,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2235:Pld3
|
UTSW |
7 |
27,240,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3106:Pld3
|
UTSW |
7 |
27,235,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5141:Pld3
|
UTSW |
7 |
27,233,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5486:Pld3
|
UTSW |
7 |
27,233,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5518:Pld3
|
UTSW |
7 |
27,231,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Pld3
|
UTSW |
7 |
27,237,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6446:Pld3
|
UTSW |
7 |
27,237,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6591:Pld3
|
UTSW |
7 |
27,231,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6691:Pld3
|
UTSW |
7 |
27,231,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6823:Pld3
|
UTSW |
7 |
27,235,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Pld3
|
UTSW |
7 |
27,231,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8150:Pld3
|
UTSW |
7 |
27,232,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Pld3
|
UTSW |
7 |
27,239,079 (GRCm39) |
nonsense |
probably null |
|
|
R8795:Pld3
|
UTSW |
7 |
27,235,286 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9049:Pld3
|
UTSW |
7 |
27,235,293 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9096:Pld3
|
UTSW |
7 |
27,232,089 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9292:Pld3
|
UTSW |
7 |
27,238,879 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-11-18 |
Incidental Mutation