Incidental Mutation 'R6446:Pld3'
| ID |
519189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld3
|
| Ensembl Gene |
ENSMUSG00000003363 |
| Gene Name |
phospholipase D family member 3 |
| Synonyms |
Sam-9 |
| MMRRC Submission |
044583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27231425-27252643 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27237156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117095]
[ENSMUST00000117611]
[ENSMUST00000127240]
[ENSMUST00000131106]
[ENSMUST00000150964]
|
| AlphaFold |
O35405 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117095
AA Change: D241G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: D241G
| 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: D241G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: D241G
| 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 |
probably benign
Transcript: ENSMUST00000127240
|
| SMART Domains |
Protein: ENSMUSP00000115891
Gene: ENSMUSG00000003363
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142981
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150964
|
| SMART Domains |
Protein: ENSMUSP00000122897
Gene: ENSMUSG00000003363
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155287
|
| Meta Mutation Damage Score |
0.9070 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
97% (36/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a3 |
A |
G |
16: 30,180,687 (GRCm39) |
L114P |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,905,992 (GRCm39) |
I196V |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,752 (GRCm39) |
S106T |
probably benign |
Het |
| Ccar2 |
T |
A |
14: 70,380,518 (GRCm39) |
E354V |
probably benign |
Het |
| Ccr1 |
A |
G |
9: 123,764,143 (GRCm39) |
I129T |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,181,076 (GRCm39) |
I188F |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,900 (GRCm39) |
N2648D |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,940,218 (GRCm39) |
S658P |
probably benign |
Het |
| Csnka2ip |
G |
A |
16: 64,299,744 (GRCm39) |
Q207* |
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,493,873 (GRCm39) |
L1253P |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,350,689 (GRCm39) |
I374K |
probably damaging |
Het |
| Dut |
T |
C |
2: 125,092,939 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
T |
C |
9: 77,967,065 (GRCm39) |
Y95H |
probably benign |
Het |
| Grid2 |
A |
T |
6: 64,322,577 (GRCm39) |
I526F |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,472,438 (GRCm39) |
Y2725N |
possibly damaging |
Het |
| Helq |
A |
T |
5: 100,916,250 (GRCm39) |
N907K |
possibly damaging |
Het |
| Hpse |
G |
A |
5: 100,843,435 (GRCm39) |
Q246* |
probably null |
Het |
| Iigp1c |
A |
G |
18: 60,378,840 (GRCm39) |
D125G |
probably damaging |
Het |
| Kcnj15 |
C |
T |
16: 95,097,118 (GRCm39) |
H247Y |
probably benign |
Het |
| Kif27 |
C |
A |
13: 58,493,530 (GRCm39) |
V138F |
probably damaging |
Het |
| Map7 |
T |
G |
10: 20,153,979 (GRCm39) |
D698E |
unknown |
Het |
| Mtmr11 |
A |
T |
3: 96,078,504 (GRCm39) |
S687C |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nup210l |
G |
A |
3: 90,079,375 (GRCm39) |
G953E |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,310 (GRCm39) |
I115N |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,219,678 (GRCm39) |
P792T |
probably damaging |
Het |
| Prss35 |
G |
T |
9: 86,637,706 (GRCm39) |
V159F |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,793 (GRCm39) |
M1406L |
probably benign |
Het |
| Serpina3g |
T |
C |
12: 104,205,341 (GRCm39) |
F27L |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,299,862 (GRCm39) |
|
probably benign |
Het |
| Sh3glb1 |
T |
C |
3: 144,411,366 (GRCm39) |
K13E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,171 (GRCm39) |
I217N |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 100,010,448 (GRCm39) |
T1981S |
probably benign |
Het |
| Svil |
A |
C |
18: 5,057,323 (GRCm39) |
E590D |
probably benign |
Het |
| Synm |
A |
G |
7: 67,384,714 (GRCm39) |
S541P |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,609 (GRCm39) |
Y82* |
probably null |
Het |
|
| Other mutations in Pld3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Pld3
|
APN |
7 |
27,232,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTATGGCCAAAAGCGACAG -3'
(R):5'- AGTTCTAGGATGTAAGCTCTTCAGAG -3'
Sequencing Primer
(F):5'- AGCGTGAGGCCCCATCTTC -3'
(R):5'- ATGTAAGCTCTTCAGAGTGGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation