Incidental Mutation 'R8983:Plcd3'
| ID |
683838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd3
|
| Ensembl Gene |
ENSMUSG00000020937 |
| Gene Name |
phospholipase C, delta 3 |
| Synonyms |
2610205J15Rik |
| MMRRC Submission |
068816-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R8983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102962092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 703
(V703A)
|
| 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: V703A
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: V703A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: V388A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,313,272 (GRCm39) |
F632I |
unknown |
Het |
| 5730522E02Rik |
T |
C |
11: 25,719,069 (GRCm39) |
T26A |
unknown |
Het |
| Ablim1 |
A |
T |
19: 57,227,644 (GRCm39) |
V7E |
probably benign |
Het |
| Adcy5 |
T |
G |
16: 34,977,232 (GRCm39) |
L255R |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 8,981,477 (GRCm39) |
N920K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,640,508 (GRCm39) |
K1251E |
|
Het |
| Astn1 |
T |
A |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
A |
G |
5: 121,916,063 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,909,359 (GRCm39) |
V509D |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,924,780 (GRCm39) |
V638A |
possibly damaging |
Het |
| Ccr6 |
T |
G |
17: 8,474,878 (GRCm39) |
C28G |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,828,902 (GRCm39) |
|
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,654,328 (GRCm39) |
I52T |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,138,686 (GRCm39) |
N555I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,753,711 (GRCm39) |
I390F |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,419 (GRCm39) |
D836G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,070,628 (GRCm39) |
V4438D |
probably damaging |
Het |
| Dok3 |
G |
T |
13: 55,671,535 (GRCm39) |
N345K |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,855,741 (GRCm39) |
Q593* |
probably null |
Het |
| Eif3m |
T |
C |
2: 104,830,139 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,914 (GRCm39) |
E152G |
probably damaging |
Het |
| Faf2 |
A |
G |
13: 54,769,726 (GRCm39) |
S25G |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,400,357 (GRCm39) |
S249P |
probably damaging |
Het |
| Fgl1 |
A |
T |
8: 41,653,496 (GRCm39) |
S132R |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,875 (GRCm39) |
E1890G |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,330,118 (GRCm39) |
S94T |
unknown |
Het |
| Hectd1 |
A |
G |
12: 51,791,410 (GRCm39) |
V2584A |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,833,104 (GRCm39) |
A498V |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Loricrin |
T |
C |
3: 91,988,446 (GRCm39) |
Y280C |
unknown |
Het |
| Lpin2 |
C |
T |
17: 71,553,962 (GRCm39) |
A931V |
unknown |
Het |
| Lpxn |
A |
G |
19: 12,810,522 (GRCm39) |
H322R |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,353,634 (GRCm39) |
S391P |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,080,702 (GRCm39) |
V565I |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,953,042 (GRCm39) |
T441I |
probably benign |
Het |
| Mrpl48 |
T |
C |
7: 100,223,702 (GRCm39) |
N14S |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,512 (GRCm39) |
F56S |
probably damaging |
Het |
| Or9g3 |
T |
C |
2: 85,584,251 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,884,298 (GRCm39) |
D640N |
probably damaging |
Het |
| Potefam1 |
A |
G |
2: 111,030,701 (GRCm39) |
S403P |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,897,934 (GRCm39) |
S250P |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,617,702 (GRCm39) |
I947V |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,974,905 (GRCm39) |
A14T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,175 (GRCm39) |
D1211G |
|
Het |
| Sbpl |
T |
C |
17: 24,172,253 (GRCm39) |
D222G |
unknown |
Het |
| Scn8a |
C |
A |
15: 100,900,030 (GRCm39) |
T703K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,459 (GRCm39) |
S403P |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,267 (GRCm39) |
S71G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,775 (GRCm39) |
|
probably benign |
Het |
| Smco3 |
C |
T |
6: 136,808,730 (GRCm39) |
G48D |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,958,815 (GRCm39) |
S280P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,538,515 (GRCm39) |
T1498A |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,263 (GRCm39) |
D641G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,695,714 (GRCm39) |
I513V |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,464,404 (GRCm39) |
D105G |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,643,003 (GRCm39) |
N300K |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,327,360 (GRCm39) |
I656S |
probably damaging |
Het |
| Zfp646 |
A |
T |
7: 127,480,777 (GRCm39) |
M985L |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,006,158 (GRCm39) |
L412Q |
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 |
|
|
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 |
|
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'- GGCCCACAAAATCATTGGGAG -3'
(R):5'- TATGGGTCCTAGTGGGGAACAG -3'
Sequencing Primer
(F):5'- GAGGTGGTGTCATAATCTTCTACCAC -3'
(R):5'- CCTAGTGGGGAACAGGCAGAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation