Incidental Mutation 'R0529:Plcd3'
ID |
49067 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcd3
|
Ensembl Gene |
ENSMUSG00000020937 |
Gene Name |
phospholipase C, delta 3 |
Synonyms |
2610205J15Rik |
MMRRC Submission |
038721-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.723)
|
Stock # |
R0529 (G1)
|
Quality Score |
110 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 102971013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 181
(H181P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103077]
|
AlphaFold |
Q8K2J0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103077
AA Change: H181P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000099366 Gene: ENSMUSG00000020937 AA Change: H181P
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 benign
Transcript: ENSMUST00000128650
|
SMART Domains |
Protein: ENSMUSP00000117455 Gene: ENSMUSG00000020937
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
|
Meta Mutation Damage Score |
0.2577 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
97% (58/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,247,146 (GRCm39) |
S77P |
probably benign |
Het |
Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
T |
C |
6: 113,243,213 (GRCm39) |
|
probably benign |
Het |
Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
Psmd11 |
T |
C |
11: 80,361,515 (GRCm39) |
|
probably benign |
Het |
Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
A |
G |
8: 47,980,014 (GRCm39) |
V174A |
possibly damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,485,988 (GRCm39) |
E502V |
probably damaging |
Het |
Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
probably damaging |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAATTAGGAGGGCCTCCCTGTTTC -3'
(R):5'- ATCACAGTCTTCGTGCAGCACATC -3'
Sequencing Primer
(F):5'- TGTTTCCTCCCTGGAGTGG -3'
(R):5'- AGCACATCGAGGCTGTCC -3'
|
Posted On |
2013-06-12 |