Incidental Mutation 'R5486:Pld3'
| ID |
430361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld3
|
| Ensembl Gene |
ENSMUSG00000003363 |
| Gene Name |
phospholipase D family member 3 |
| Synonyms |
Sam-9 |
| MMRRC Submission |
043047-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5486 (G1)
|
| Quality Score |
178 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27231425-27252643 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27233156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 365
(W365L)
|
| 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: W365L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363
AA Change: W365L
| 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: W365L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363
AA Change: W365L
| 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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
| Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
| Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
| Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
| Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
| Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
| Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
| Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
| Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
| Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
| Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
| Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
| Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
| Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
| Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATAAACCTCTGTCTGTACCC -3'
(R):5'- ATGCAGAGAAACCCTGTCTC -3'
Sequencing Primer
(F):5'- TCACGGCTGCATACTCTGG -3'
(R):5'- TGCAGAGAAACCCTGTCTCAAAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation