Incidental Mutation 'IGL02634:Plcd3'
| ID |
301440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plcd3
|
| Ensembl Gene |
ENSMUSG00000020937 |
| Gene Name |
phospholipase C, delta 3 |
| Synonyms |
2610205J15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
IGL02634
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102968653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 31
(S31F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103077]
|
| AlphaFold |
Q8K2J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103077
AA Change: S346F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: S346F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
PH
|
61 |
170 |
4.07e-5 |
SMART |
|
Pfam:EF-hand_10
|
197 |
246 |
1.8e-27 |
PFAM |
|
Pfam:EF-hand_like
|
251 |
332 |
2.6e-24 |
PFAM |
|
PLCXc
|
333 |
478 |
7.75e-85 |
SMART |
|
low complexity region
|
495 |
512 |
N/A |
INTRINSIC |
|
PLCYc
|
524 |
640 |
3.96e-50 |
SMART |
|
C2
|
657 |
763 |
1.05e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128650
AA Change: S31F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: S31F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
PLCXc
|
19 |
164 |
7.75e-85 |
SMART |
|
coiled coil region
|
172 |
206 |
N/A |
INTRINSIC |
|
PLCYc
|
210 |
326 |
3.96e-50 |
SMART |
|
C2
|
343 |
449 |
1.05e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| 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 C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
T |
A |
11: 50,683,548 (GRCm39) |
C943* |
probably null |
Het |
| Arhgef28 |
A |
T |
13: 98,187,566 (GRCm39) |
V243D |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,038,884 (GRCm39) |
I62K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,427,863 (GRCm39) |
T416A |
probably benign |
Het |
| AW209491 |
A |
G |
13: 14,812,268 (GRCm39) |
T374A |
probably damaging |
Het |
| Brcc3 |
T |
C |
X: 74,479,704 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
T |
G |
1: 164,107,514 (GRCm39) |
S66A |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,320 (GRCm39) |
I435T |
probably benign |
Het |
| Cdc14b |
C |
A |
13: 64,364,117 (GRCm39) |
|
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,617,477 (GRCm39) |
S48P |
probably damaging |
Het |
| Ciita |
C |
A |
16: 10,326,577 (GRCm39) |
S253Y |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,533 (GRCm39) |
R1005H |
probably damaging |
Het |
| Dsg4 |
A |
T |
18: 20,591,637 (GRCm39) |
I459F |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,103,506 (GRCm39) |
E361G |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,310,422 (GRCm39) |
D280G |
probably benign |
Het |
| Fignl1 |
G |
A |
11: 11,752,756 (GRCm39) |
R100* |
probably null |
Het |
| Ggcx |
G |
T |
6: 72,395,286 (GRCm39) |
A126S |
probably damaging |
Het |
| Hdgfl1 |
A |
G |
13: 26,953,786 (GRCm39) |
S96P |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,764,622 (GRCm39) |
L1541F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,145,289 (GRCm39) |
E888G |
possibly damaging |
Het |
| Kank4 |
T |
A |
4: 98,667,064 (GRCm39) |
Q461L |
probably benign |
Het |
| Klhl20 |
C |
T |
1: 160,925,935 (GRCm39) |
V438M |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,620,171 (GRCm39) |
S27R |
probably damaging |
Het |
| Ksr2 |
T |
C |
5: 117,901,394 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,389,938 (GRCm39) |
S1829N |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,945,611 (GRCm39) |
L4585P |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,978 (GRCm39) |
N9S |
probably benign |
Het |
| Palm3 |
T |
G |
8: 84,755,494 (GRCm39) |
S335R |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,830,560 (GRCm39) |
A446V |
possibly damaging |
Het |
| Penk |
A |
G |
4: 4,134,065 (GRCm39) |
L194P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,403,063 (GRCm39) |
F2255S |
probably damaging |
Het |
| Pou2af2 |
A |
G |
9: 51,203,055 (GRCm39) |
L33P |
possibly damaging |
Het |
| Ppp6r2 |
C |
T |
15: 89,159,680 (GRCm39) |
Q456* |
probably null |
Het |
| Rbbp8nl |
T |
C |
2: 179,922,688 (GRCm39) |
D235G |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,283,307 (GRCm39) |
N457K |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,951,972 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,595,787 (GRCm39) |
F148L |
probably benign |
Het |
| Slc45a2 |
A |
T |
15: 11,023,440 (GRCm39) |
H348L |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,977,498 (GRCm39) |
A28T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,285,356 (GRCm39) |
I436T |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,080,035 (GRCm39) |
R1088H |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,535,366 (GRCm39) |
Y422H |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,108,345 (GRCm39) |
I503F |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,961,382 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,896,871 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Plcd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Plcd3
|
APN |
11 |
102,968,696 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01906:Plcd3
|
APN |
11 |
102,967,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02325:Plcd3
|
APN |
11 |
102,971,447 (GRCm39) |
nonsense |
probably null |
|
|
IGL02852:Plcd3
|
APN |
11 |
102,964,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Plcd3
|
APN |
11 |
102,965,724 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02837:Plcd3
|
UTSW |
11 |
102,961,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02988:Plcd3
|
UTSW |
11 |
102,967,568 (GRCm39) |
missense |
probably benign |
|
|
R0055:Plcd3
|
UTSW |
11 |
102,968,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Plcd3
|
UTSW |
11 |
102,968,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Plcd3
|
UTSW |
11 |
102,965,720 (GRCm39) |
missense |
probably benign |
|
|
R0452:Plcd3
|
UTSW |
11 |
102,962,085 (GRCm39) |
unclassified |
probably benign |
|
|
R0529:Plcd3
|
UTSW |
11 |
102,971,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0556:Plcd3
|
UTSW |
11 |
102,968,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Plcd3
|
UTSW |
11 |
102,969,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Plcd3
|
UTSW |
11 |
102,971,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2157:Plcd3
|
UTSW |
11 |
102,961,974 (GRCm39) |
missense |
probably benign |
|
|
R2519:Plcd3
|
UTSW |
11 |
102,971,226 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3809:Plcd3
|
UTSW |
11 |
102,992,209 (GRCm39) |
missense |
probably null |
0.03 |
|
R4167:Plcd3
|
UTSW |
11 |
102,969,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5100:Plcd3
|
UTSW |
11 |
102,969,175 (GRCm39) |
missense |
probably benign |
|
|
R5387:Plcd3
|
UTSW |
11 |
102,969,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Plcd3
|
UTSW |
11 |
102,968,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5700:Plcd3
|
UTSW |
11 |
102,964,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5754:Plcd3
|
UTSW |
11 |
102,964,592 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5936:Plcd3
|
UTSW |
11 |
102,969,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Plcd3
|
UTSW |
11 |
102,971,227 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6102:Plcd3
|
UTSW |
11 |
102,971,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6480:Plcd3
|
UTSW |
11 |
102,965,757 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6481:Plcd3
|
UTSW |
11 |
102,968,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6566:Plcd3
|
UTSW |
11 |
102,964,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Plcd3
|
UTSW |
11 |
102,968,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Plcd3
|
UTSW |
11 |
102,970,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Plcd3
|
UTSW |
11 |
102,992,383 (GRCm39) |
unclassified |
probably benign |
|
|
R7484:Plcd3
|
UTSW |
11 |
102,962,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Plcd3
|
UTSW |
11 |
102,967,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Plcd3
|
UTSW |
11 |
102,965,481 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7857:Plcd3
|
UTSW |
11 |
102,968,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8349:Plcd3
|
UTSW |
11 |
102,965,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Plcd3
|
UTSW |
11 |
102,965,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Plcd3
|
UTSW |
11 |
102,962,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Plcd3
|
UTSW |
11 |
102,971,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8894:Plcd3
|
UTSW |
11 |
102,962,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Plcd3
|
UTSW |
11 |
102,962,092 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9252:Plcd3
|
UTSW |
11 |
102,968,380 (GRCm39) |
nonsense |
probably null |
|
|
R9253:Plcd3
|
UTSW |
11 |
102,970,460 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0023:Plcd3
|
UTSW |
11 |
102,971,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation