Incidental Mutation 'R5754:Plcd3'
ID |
444960 |
Institutional Source |
Beutler Lab
|
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 # |
R5754 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102964592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 593
(Y593F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021314]
[ENSMUST00000103077]
|
AlphaFold |
Q8K2J0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021314
|
SMART Domains |
Protein: ENSMUSP00000021314 Gene: ENSMUSG00000020936
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
67 |
N/A |
INTRINSIC |
Pfam:NMT
|
137 |
294 |
6.7e-77 |
PFAM |
Pfam:NMT_C
|
308 |
495 |
1.4e-85 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103077
AA Change: Y593F
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099366 Gene: ENSMUSG00000020937 AA Change: Y593F
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: Y278F
|
SMART Domains |
Protein: ENSMUSP00000117455 Gene: ENSMUSG00000020937 AA Change: Y278F
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
|
Meta Mutation Damage Score |
0.3505 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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 |
Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,243,237 (GRCm39) |
V1789D |
possibly damaging |
Het |
Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,913,373 (GRCm39) |
|
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,477,580 (GRCm39) |
K363R |
probably damaging |
Het |
Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,137,602 (GRCm39) |
V401A |
probably damaging |
Het |
Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,807,387 (GRCm39) |
C358S |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
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 |
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'- CCTTCTAGAAAGCTGTGTGGC -3'
(R):5'- TATCTGGTCCTCAGCAACCC -3'
Sequencing Primer
(F):5'- GCAATCACATGGTGGCTTAC -3'
(R):5'- CTAGTCTCACCATAGTTCAGGAGAG -3'
|
Posted On |
2016-11-21 |