Incidental Mutation 'IGL03025:Plcd3'
| ID |
408124 |
| 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 # |
IGL03025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102965724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 503
(E503K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103077]
|
| AlphaFold |
Q8K2J0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103077
AA Change: E503K
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: E503K
| 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 |
noncoding transcript
Transcript: ENSMUST00000124740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128650
AA Change: E188K
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: E188K
| 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: 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
| Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
| Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
| Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
| Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
| Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
| Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
| Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
| Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
| Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
| Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
| Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
| Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
| Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
| Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
|
|
IGL02634:Plcd3
|
APN |
11 |
102,968,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Plcd3
|
APN |
11 |
102,964,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation