Incidental Mutation 'R3809:Plcd3'
| ID |
275121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd3
|
| Ensembl Gene |
ENSMUSG00000020937 |
| Gene Name |
phospholipase C, delta 3 |
| Synonyms |
2610205J15Rik |
| MMRRC Submission |
040766-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.716)
|
| Stock # |
R3809 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102992209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 50
(M50V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024492]
[ENSMUST00000092559]
[ENSMUST00000103077]
[ENSMUST00000107040]
[ENSMUST00000129870]
[ENSMUST00000140372]
[ENSMUST00000134884]
[ENSMUST00000152971]
|
| AlphaFold |
Q8K2J0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024492
|
| SMART Domains |
Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
11 |
93 |
5.6e-27 |
PFAM |
|
low complexity region
|
149 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
254 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092559
|
| SMART Domains |
Protein: ENSMUSP00000090220
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
10 |
81 |
1e-27 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000103077
AA Change: M50V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: M50V
| 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: ENSMUST00000107040
|
| SMART Domains |
Protein: ENSMUSP00000102655
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WH5|F
|
7 |
66 |
1e-22 |
PDB |
|
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
214 |
N/A |
INTRINSIC |
|
transmembrane domain
|
256 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124965
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129870
|
| SMART Domains |
Protein: ENSMUSP00000116755
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
10 |
81 |
1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162338
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140372
|
| SMART Domains |
Protein: ENSMUSP00000115521
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WH5|F
|
7 |
66 |
1e-23 |
PDB |
|
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134884
|
| SMART Domains |
Protein: ENSMUSP00000120031
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WH5|F
|
7 |
55 |
5e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152971
|
| SMART Domains |
Protein: ENSMUSP00000118886
Gene: ENSMUSG00000056938
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WH5|F
|
7 |
66 |
1e-24 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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 |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 3425401B19Rik |
T |
C |
14: 32,385,650 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,262 (GRCm39) |
T287S |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,037,057 (GRCm39) |
N561K |
probably benign |
Het |
| Armc3 |
G |
T |
2: 19,305,476 (GRCm39) |
A757S |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,799,240 (GRCm39) |
S295T |
probably benign |
Het |
| Brd4 |
T |
A |
17: 32,430,244 (GRCm39) |
K686N |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,202 (GRCm39) |
T443A |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,306,922 (GRCm39) |
T1801A |
probably damaging |
Het |
| Celsr2 |
G |
A |
3: 108,310,555 (GRCm39) |
T1509I |
possibly damaging |
Het |
| Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
| Cog1 |
G |
T |
11: 113,545,836 (GRCm39) |
M370I |
probably benign |
Het |
| Col6a6 |
C |
G |
9: 105,657,891 (GRCm39) |
V774L |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,245,836 (GRCm39) |
S264R |
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,740 (GRCm39) |
V620D |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
| Frmd4b |
G |
A |
6: 97,300,690 (GRCm39) |
L214F |
possibly damaging |
Het |
| Fstl1 |
T |
A |
16: 37,647,113 (GRCm39) |
L161Q |
probably damaging |
Het |
| Hdac1 |
A |
G |
4: 129,418,113 (GRCm39) |
F94S |
probably damaging |
Het |
| Hlf |
T |
C |
11: 90,278,929 (GRCm39) |
D45G |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,072,976 (GRCm39) |
M501K |
probably damaging |
Het |
| Ighv14-4 |
A |
G |
12: 114,140,174 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,923,086 (GRCm39) |
V406D |
probably damaging |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,678,664 (GRCm39) |
T944A |
probably benign |
Het |
| Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
| Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,136 (GRCm39) |
R195G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,801 (GRCm39) |
I2821T |
possibly damaging |
Het |
| Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,889,271 (GRCm39) |
K271N |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Or56b1 |
A |
T |
7: 104,285,540 (GRCm39) |
I220L |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
| Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
| Pfdn1 |
C |
T |
18: 36,584,145 (GRCm39) |
G63D |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,208 (GRCm39) |
F405L |
probably damaging |
Het |
| Plekha8 |
C |
A |
6: 54,596,334 (GRCm39) |
S198R |
probably benign |
Het |
| Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
| Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
T |
A |
10: 31,379,804 (GRCm39) |
I473F |
possibly damaging |
Het |
| Sec16a |
G |
C |
2: 26,331,825 (GRCm39) |
N63K |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,130,784 (GRCm39) |
D1240G |
probably benign |
Het |
| Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
| Slc2a3 |
A |
G |
6: 122,709,388 (GRCm39) |
I337T |
probably benign |
Het |
| Tent4a |
A |
G |
13: 69,661,115 (GRCm39) |
V51A |
probably damaging |
Het |
| Tinag |
C |
T |
9: 76,859,187 (GRCm39) |
D474N |
probably benign |
Het |
| Ublcp1 |
A |
G |
11: 44,349,109 (GRCm39) |
F242L |
probably benign |
Het |
| Ucp1 |
C |
A |
8: 84,017,270 (GRCm39) |
A20D |
probably damaging |
Het |
| Ugt1a7c |
C |
T |
1: 88,023,104 (GRCm39) |
R88W |
possibly damaging |
Het |
| Wipf3 |
A |
G |
6: 54,458,780 (GRCm39) |
D45G |
probably damaging |
Het |
| Zfp592 |
G |
A |
7: 80,674,280 (GRCm39) |
A415T |
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 |
|
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'- AAGTCTGATGACCCCAGGTGTG -3'
(R):5'- AAGTTTCTTAGCTCCGGACCG -3'
Sequencing Primer
(F):5'- GGTGTGAACCCCAACTGGAAC -3'
(R):5'- CGGTTCTCACGCACAGATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation