Incidental Mutation 'R6480:Plcd3'
| ID |
517050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd3
|
| Ensembl Gene |
ENSMUSG00000020937 |
| Gene Name |
phospholipase C, delta 3 |
| Synonyms |
2610205J15Rik |
| MMRRC Submission |
044612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R6480 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102965757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 492
(S492P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103077]
|
| AlphaFold |
Q8K2J0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103077
AA Change: S492P
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: S492P
| 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 |
unknown
Transcript: ENSMUST00000128650
AA Change: S177P
|
| SMART Domains |
Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: S177P
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (57/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8b |
T |
A |
6: 108,792,010 (GRCm39) |
N90K |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,676 (GRCm39) |
F140L |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,587,049 (GRCm39) |
M967K |
probably damaging |
Het |
| Ccne1 |
G |
A |
7: 37,806,279 (GRCm39) |
|
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,373,464 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
A |
7: 25,219,414 (GRCm39) |
E282V |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,161,373 (GRCm39) |
C86* |
probably null |
Het |
| Cul2 |
A |
C |
18: 3,417,561 (GRCm39) |
K115T |
possibly damaging |
Het |
| Dhx29 |
A |
T |
13: 113,090,322 (GRCm39) |
K800* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,976,758 (GRCm39) |
F1741S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,412 (GRCm39) |
T3455A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd4 |
A |
T |
7: 140,874,706 (GRCm39) |
I366F |
possibly damaging |
Het |
| Fam169b |
T |
A |
7: 68,003,466 (GRCm39) |
Y273* |
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,177,338 (GRCm39) |
Y1833F |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,899 (GRCm39) |
I121V |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,924,338 (GRCm39) |
T217A |
possibly damaging |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,810 (GRCm39) |
S32P |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,747,771 (GRCm39) |
F1062L |
probably benign |
Het |
| Lct |
G |
A |
1: 128,222,057 (GRCm39) |
T1494I |
probably damaging |
Het |
| Lilra6 |
G |
A |
7: 3,915,932 (GRCm39) |
T309I |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,011,236 (GRCm39) |
T321A |
possibly damaging |
Het |
| Mmp23 |
T |
A |
4: 155,736,798 (GRCm39) |
N104I |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,171,238 (GRCm39) |
Y131C |
|
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Ndufs2 |
A |
G |
1: 171,064,267 (GRCm39) |
S348P |
probably damaging |
Het |
| Nepro |
T |
C |
16: 44,547,438 (GRCm39) |
S52P |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,507,356 (GRCm39) |
E874G |
possibly damaging |
Het |
| Nsmce1 |
A |
G |
7: 125,090,590 (GRCm39) |
V9A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,007 (GRCm39) |
F62L |
probably benign |
Het |
| Or2a7 |
T |
C |
6: 43,151,000 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b105 |
T |
A |
19: 13,079,838 (GRCm39) |
T277S |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,308,590 (GRCm39) |
I10F |
possibly damaging |
Het |
| Per2 |
A |
T |
1: 91,357,104 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
T |
C |
13: 21,607,646 (GRCm39) |
I183V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,676,195 (GRCm39) |
V113A |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,773,474 (GRCm39) |
L259P |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,365,019 (GRCm39) |
Q1124* |
probably null |
Het |
| Rcor2 |
T |
G |
19: 7,248,411 (GRCm39) |
M142R |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,950,101 (GRCm39) |
E115G |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,818 (GRCm39) |
Y475C |
probably damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,297 (GRCm39) |
I611N |
possibly damaging |
Het |
| Slc25a24 |
G |
T |
3: 109,043,617 (GRCm39) |
M91I |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,922,786 (GRCm39) |
S888G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,014,714 (GRCm39) |
|
probably null |
Het |
| Stk35 |
C |
A |
2: 129,652,607 (GRCm39) |
D369E |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,637,986 (GRCm39) |
S889P |
probably damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,798,050 (GRCm39) |
N697S |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,947,852 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,543,160 (GRCm39) |
Y25N |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,949,598 (GRCm39) |
C563R |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,512 (GRCm39) |
S833G |
possibly damaging |
Het |
| Uggt2 |
T |
A |
14: 119,294,976 (GRCm39) |
H550L |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,591,048 (GRCm39) |
|
probably null |
Het |
| Wbp1l |
T |
A |
19: 46,642,758 (GRCm39) |
L253Q |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,556,078 (GRCm39) |
S161R |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,032,782 (GRCm39) |
T256A |
probably damaging |
Het |
| Zpr1 |
A |
G |
9: 46,186,009 (GRCm39) |
D160G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGATCACTAAGCTCAAGAG -3'
(R):5'- TCCTGTTAGGAACAAGCACTC -3'
Sequencing Primer
(F):5'- TCAAGAGCCCCTCCCCC -3'
(R):5'- TGTTAGGAACAAGCACTCCAGTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation