Incidental Mutation 'R4167:Plcd3'
ID |
320630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcd3
|
Ensembl Gene |
ENSMUSG00000020937 |
Gene Name |
phospholipase C, delta 3 |
Synonyms |
2610205J15Rik |
MMRRC Submission |
041008-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.723)
|
Stock # |
R4167 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102969290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 226
(C226S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103077]
|
AlphaFold |
Q8K2J0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103077
AA Change: C226S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099366 Gene: ENSMUSG00000020937 AA Change: C226S
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
94% (31/33) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
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 |
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'- AGTCTGGATAAGCTGCTGGG -3'
(R):5'- AATCCTGATCTTGATCCCTGGGAC -3'
Sequencing Primer
(F):5'- TAAGCTGCTGGGCACAGG -3'
(R):5'- TGGGACAGTTGAGGACTCC -3'
|
Posted On |
2015-06-12 |