Incidental Mutation 'IGL02988:Plcd3'
| ID |
453506 |
| 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 # |
IGL02988 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102961130-102992484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102967568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 458
(Q458L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103077]
|
| AlphaFold |
Q8K2J0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103077
AA Change: Q458L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937
AA Change: Q458L
| 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: Q143L
|
| SMART Domains |
Protein: ENSMUSP00000117455
Gene: ENSMUSG00000020937
AA Change: Q143L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
99% (71/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,513,100 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,221,074 (GRCm39) |
A488T |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,605,355 (GRCm39) |
S284G |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,376,509 (GRCm39) |
V897L |
probably benign |
Het |
| Arl6 |
T |
A |
16: 59,434,209 (GRCm39) |
|
probably null |
Het |
| Blnk |
G |
A |
19: 40,917,660 (GRCm39) |
T441M |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,644,590 (GRCm39) |
T1221I |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,171 (GRCm39) |
F63L |
possibly damaging |
Het |
| Cdk14 |
A |
G |
5: 5,086,484 (GRCm39) |
Y279H |
probably damaging |
Het |
| Cflar |
A |
T |
1: 58,780,190 (GRCm39) |
I265F |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
A |
T |
5: 137,897,272 (GRCm39) |
Y347* |
probably null |
Het |
| Defa27 |
T |
C |
8: 21,805,583 (GRCm39) |
S8P |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,113,511 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,216,323 (GRCm39) |
F573S |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,741,749 (GRCm39) |
E120V |
probably benign |
Het |
| Fam53a |
T |
C |
5: 33,764,819 (GRCm39) |
K296E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,972,355 (GRCm39) |
T1526A |
possibly damaging |
Het |
| Gm14325 |
A |
C |
2: 177,476,042 (GRCm39) |
|
probably null |
Het |
| Gm7582 |
G |
A |
1: 85,019,588 (GRCm39) |
|
noncoding transcript |
Het |
| Golga7b |
A |
C |
19: 42,255,239 (GRCm39) |
Y63S |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,334,729 (GRCm39) |
L14P |
unknown |
Het |
| Hsd17b3 |
A |
C |
13: 64,236,914 (GRCm39) |
L10R |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,635,420 (GRCm39) |
F611L |
probably damaging |
Het |
| Ints13 |
T |
A |
6: 146,457,646 (GRCm39) |
T411S |
possibly damaging |
Het |
| Kif18b |
C |
A |
11: 102,799,146 (GRCm39) |
C685F |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,509,729 (GRCm39) |
N19S |
probably damaging |
Het |
| Lmbr1 |
G |
T |
5: 29,497,221 (GRCm39) |
|
probably null |
Het |
| Minar1 |
A |
G |
9: 89,484,792 (GRCm39) |
S202P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,216,397 (GRCm39) |
R62Q |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,458,183 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,037,423 (GRCm39) |
|
probably benign |
Het |
| Nobox |
G |
A |
6: 43,282,095 (GRCm39) |
S326L |
possibly damaging |
Het |
| Nsl1 |
C |
A |
1: 190,795,300 (GRCm39) |
S22* |
probably null |
Het |
| Or5b3 |
A |
C |
19: 13,388,826 (GRCm39) |
K298Q |
possibly damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,823 (GRCm39) |
I221T |
probably damaging |
Het |
| Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,651,471 (GRCm39) |
R940* |
probably null |
Het |
| Polm |
T |
A |
11: 5,786,343 (GRCm39) |
T75S |
probably benign |
Het |
| Pon3 |
T |
A |
6: 5,232,330 (GRCm39) |
D230V |
possibly damaging |
Het |
| Pxdn |
A |
T |
12: 30,053,113 (GRCm39) |
K917* |
probably null |
Het |
| Rad54l2 |
A |
G |
9: 106,577,784 (GRCm39) |
S1046P |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,318,035 (GRCm39) |
|
probably null |
Het |
| Rnf215 |
A |
G |
11: 4,086,785 (GRCm39) |
E194G |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,915,336 (GRCm39) |
F441I |
probably damaging |
Het |
| Sel1l2 |
C |
A |
2: 140,090,508 (GRCm39) |
G378V |
probably damaging |
Het |
| Sema6a |
G |
T |
18: 47,431,281 (GRCm39) |
A139D |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,266 (GRCm39) |
M274K |
probably benign |
Het |
| Siglec15 |
A |
C |
18: 78,092,462 (GRCm39) |
L32R |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,067,476 (GRCm39) |
D681V |
probably damaging |
Het |
| Slc6a13 |
G |
T |
6: 121,303,066 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,179 (GRCm39) |
A77S |
probably benign |
Het |
| Slit3 |
T |
A |
11: 35,598,890 (GRCm39) |
V1498D |
probably damaging |
Het |
| Snorc |
A |
G |
1: 87,402,926 (GRCm39) |
|
probably null |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,683,267 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,042,773 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tec |
A |
G |
5: 72,926,090 (GRCm39) |
S321P |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,688,381 (GRCm39) |
M2402T |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tm4sf1 |
A |
T |
3: 57,200,537 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
T |
C |
6: 116,019,889 (GRCm39) |
E306G |
probably damaging |
Het |
| Traf3ip3 |
A |
T |
1: 192,877,182 (GRCm39) |
|
probably null |
Het |
| Utf1 |
C |
T |
7: 139,523,875 (GRCm39) |
P30L |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,077,847 (GRCm39) |
C880S |
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 |
|
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 |
|
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'- GATGCCAGTTAAACCGAGCAG -3'
(R):5'- TACAGACTTGGTCCCTTGGG -3'
Sequencing Primer
(F):5'- CAGTTAAACCGAGCAGGAAAAGGTC -3'
(R):5'- AGCTGACCACCATGTGTAGG -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation